P49281
PR
Gene name |
SLC11A2 (DCT1, DMT1, NRAMP2, OK/SW-cl.20) |
Protein name |
Natural resistance-associated macrophage protein 2 |
Names |
NRAMP 2, Divalent cation transporter 1, Divalent metal transporter 1, DMT-1, Solute carrier family 11 member 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4891 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
339 variants for P49281
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001110203 CA6566830 rs17222470 RCV002556160 |
62 | Y>H | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001859849 CA6566826 RCV000281257 rs141728916 |
66 | S>N | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000984996 CA384849314 rs1592380743 |
75 | G>R | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001114234 rs138686455 CA6566817 |
97 | G>A | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_033011 | 114 | V>del | AHMIO1 [UniProt] | Yes | UniProt |
|
RCV000395991 CA10637814 rs774857007 |
146 | R>G | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000296429 CA10637813 rs886049568 |
172 | I>V | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6566708 rs115874705 RCV000972501 RCV000349704 |
209 | A>T | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_033012 rs121918367 CA120097 RCV000009646 |
212 | G>V | Microcytic anemia with liver iron overload AHMIO1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA10633087 rs886049567 RCV000292543 |
216 | T>I | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000791116 rs1592344306 COSM940412 CA384847193 |
239 | G>S | endometrium Microcytic anemia with liver iron overload [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs17216051 RCV002558127 CA6566633 RCV001112873 |
298 | I>T | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000327709 CA6566625 rs769742722 |
311 | N>S | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001110876 CA6566590 rs376365060 |
350 | S>L | Variant assessed as Somatic; 0.0 impact. Microcytic anemia with liver iron overload [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000009642 rs121918365 VAR_033013 CA120092 |
399 | E>D | Microcytic anemia with liver iron overload AHMIO1; increased skipping of exon 12 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
VAR_033014 CA120094 RCV000009644 rs121918366 |
416 | R>C | Microcytic anemia with liver iron overload AHMIO1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP |
|
RCV000323759 CA6566525 rs148582995 |
420 | I>V | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6566520 VAR_008882 RCV002069788 rs144863268 RCV001110875 |
435 | L>I | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1229345464 CA384841093 RCV001110118 |
504 | H>R | Microcytic anemia with liver iron overload [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6566914 rs762762552 |
2 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239859319 CA384841403 |
4 | G>D | No |
ClinGen gnomAD |
|
|
rs200570455 CA236201384 |
6 | E>D | No |
ClinGen Ensembl |
|
|
CA384841344 rs1449178669 |
7 | Q>R | No |
ClinGen gnomAD |
|
|
CA384841327 rs1482077729 |
8 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs765228844 CA6566912 |
9 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA384841269 rs1592406314 |
10 | S>T | No |
ClinGen Ensembl |
|
|
rs1241858819 CA384840022 |
15 | S>A | No |
ClinGen TOPMed |
|
|
rs1458341671 CA384840021 |
15 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6566882 rs565669746 |
16 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384839994 rs745954183 |
18 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1592395960 CA384839991 |
18 | H>Q | No |
ClinGen Ensembl |
|
|
CA6566881 rs745954183 |
18 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6566880 rs367872180 |
19 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6566879 rs757537090 |
20 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236201158 rs148005999 |
21 | S>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747177621 CA6566878 |
23 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs778808942 CA6566877 |
26 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384839921 rs1592395812 |
27 | I>T | No |
ClinGen Ensembl |
|
|
rs373755108 CA6566876 |
28 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373755108 CA6566875 |
28 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA384839901 rs1442531090 |
30 | A>V | No |
ClinGen gnomAD |
|
|
rs1294702056 CA384839891 |
32 | S>G | No |
ClinGen gnomAD |
|
|
CA6566873 rs370117035 |
35 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160776172 CA384839840 |
39 | S>C | No |
ClinGen gnomAD |
|
|
CA384839835 rs1406498941 |
40 | P>R | No |
ClinGen TOPMed |
|
|
rs1338865971 CA384839826 |
42 | D>N | No |
ClinGen TOPMed |
|
|
CA6566869 rs763751718 |
45 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1255641129 CA384839804 |
45 | E>Q | No |
ClinGen gnomAD |
|
|
CA6566866 rs549517700 |
47 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760028045 CA6566864 |
48 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs760028045 CA6566865 COSM32671 VAR_036434 |
48 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine a colorectal cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs770968546 CA6566862 |
49 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236201156 rs770968546 |
49 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384839733 rs1240991551 |
55 | I>F | No |
ClinGen Ensembl |
|
|
CA384839724 rs1592395351 |
56 | S>C | No |
ClinGen Ensembl |
|
|
rs772280207 CA6566859 |
57 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1242480965 CA384839711 |
58 | P>L | No |
ClinGen gnomAD |
|
|
CA6566858 rs749103851 |
59 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA384839703 rs1294169751 |
60 | E>K | No |
ClinGen gnomAD |
|
|
CA6566829 rs752318995 |
62 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6566828 rs764830058 |
63 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766877418 CA6566825 |
68 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773212190 CA6566823 COSM548683 |
68 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773212190 CA6566824 |
68 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236252706 rs970285679 |
70 | L>F | No |
ClinGen Ensembl |
|
|
rs767601923 CA6566822 |
72 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA384849325 rs1351927150 |
74 | T>P | No |
ClinGen TOPMed |
|
|
rs1172632693 CA384849304 |
75 | G>V | No |
ClinGen gnomAD |
|
|
rs1474779433 CA384849235 |
80 | M>I | No |
ClinGen gnomAD |
|
|
CA384849240 rs1191232488 |
80 | M>T | No |
ClinGen gnomAD |
|
|
CA384849249 rs1426692994 |
80 | M>V | No |
ClinGen gnomAD |
|
|
rs1192115178 CA605032187 |
84 | Y>* | No |
ClinGen gnomAD |
|
|
CA384849126 rs1312273180 |
89 | N>S | No |
ClinGen TOPMed |
|
|
CA6566819 rs553779679 |
91 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310611142 CA384849082 |
92 | S>C | No |
ClinGen gnomAD |
|
|
rs562530554 CA6566818 |
93 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs562530554 CA236252679 |
93 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA236252672 rs994023272 |
103 | K>M | No |
ClinGen Ensembl |
|
|
rs763257645 CA6566799 |
110 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6566800 rs764475098 |
110 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592378663 CA384848836 |
112 | T>P | No |
ClinGen Ensembl |
|
|
rs1422495832 CA384848822 |
114 | V>L | No |
ClinGen gnomAD |
|
|
rs776619612 CA6566797 |
116 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs746746118 CA6566795 |
120 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6566796 rs566990982 |
120 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384848784 rs1200652011 |
121 | L>F | No |
ClinGen gnomAD |
|
|
CA384848775 rs1359052884 |
122 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA384848771 rs1209406800 |
123 | A>G | No |
ClinGen TOPMed |
|
|
CA6566794 rs773224635 |
123 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6566791 rs778392950 |
127 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6566792 rs747663559 |
127 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1445726338 CA384848737 |
129 | T>S | No |
ClinGen TOPMed |
|
|
CA384848716 rs1393076932 |
133 | L>V | No |
ClinGen gnomAD |
|
|
CA6566783 rs751749578 |
136 | V>G | No |
ClinGen ExAC |
|
|
rs144853304 CA6566780 |
138 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763309615 CA6566781 |
138 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6566779 rs577960009 |
139 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368158015 CA6566778 COSM174235 |
139 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA236252398 rs1016702355 |
140 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA384848663 rs1440473946 |
141 | Y>C | No |
ClinGen gnomAD |
|
|
rs772816262 CA6566777 |
142 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384848652 rs1334766370 |
143 | K>E | No |
ClinGen TOPMed |
|
|
CA6566754 rs762525808 |
144 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs149112934 CA236250101 |
145 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6566753 rs774857007 |
146 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs769542192 CA6566752 |
146 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236250095 rs1020376733 |
151 | L>Q | No |
ClinGen TOPMed |
|
|
rs745484988 CA6566751 |
152 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA6566750 rs781651991 |
157 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6566749 rs771454721 |
158 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6566747 rs778441793 |
159 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748329523 CA384848361 CA6566745 |
160 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6566746 rs748329523 |
160 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199818531 CA6566744 |
163 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA384848311 rs1265104706 |
163 | Q>P | No |
ClinGen gnomAD |
|
|
CA6566743 rs755266194 |
164 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1033885683 CA236250046 |
168 | S>P | No |
ClinGen Ensembl |
|
|
rs1253717479 CA384848150 |
174 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1201817529 CA384848139 |
174 | L>R | No |
ClinGen gnomAD |
|
|
CA236250022 rs772536999 |
176 | S>Y | No |
ClinGen Ensembl |
|
|
CA236249988 rs906691970 |
177 | V>A | No |
ClinGen Ensembl |
|
|
CA236249991 rs905079987 |
177 | V>I | No |
ClinGen TOPMed |
|
|
rs1411090427 CA384847701 |
182 | L>P | No |
ClinGen TOPMed |
|
|
CA384847653 rs1480734740 |
185 | G>V | No |
ClinGen TOPMed |
|
|
rs1444731382 CA384847649 |
186 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6566729 rs772767300 |
190 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384847516 rs1388341908 |
195 | V>A | No |
ClinGen gnomAD |
|
|
rs748583739 CA6566728 |
195 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA384847498 rs1379350586 |
197 | L>V | No |
ClinGen gnomAD |
|
|
rs377590166 COSM548684 CA6566710 |
205 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1432320720 CA384847402 |
209 | A>G | No |
ClinGen TOPMed |
|
|
CA236249368 rs121918367 |
212 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384847379 rs1214754848 |
213 | F>L | No |
ClinGen gnomAD |
|
|
rs1306451298 CA384847358 |
216 | T>A | No |
ClinGen TOPMed |
|
|
CA236249351 rs751898404 |
217 | I>V | No |
ClinGen TOPMed |
|
|
rs1215639338 CA384847343 |
218 | M>T | No |
ClinGen gnomAD |
|
|
CA6566685 rs745901974 |
227 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1276190960 CA384847272 |
227 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA384847271 rs1276190960 |
227 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6566684 rs781285900 |
228 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592344437 CA384847250 |
230 | K>N | No |
ClinGen Ensembl |
|
|
CA384847244 rs1213240368 |
231 | P>R | No |
ClinGen TOPMed |
|
|
rs1445286247 CA384847246 |
231 | P>T | No |
ClinGen gnomAD |
|
|
CA6566682 rs747964479 |
232 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6566681 rs778759797 |
234 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384847224 rs778759797 |
234 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384847218 rs1404649336 |
235 | Q>* | No |
ClinGen gnomAD |
|
|
CA6566680 rs755018171 |
235 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384847186 rs370116016 |
240 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6566677 rs370116016 |
240 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA236247757 rs749882321 |
241 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6566675 rs767138220 |
242 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA384847118 rs751917209 |
245 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6566673 rs751917209 |
245 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA384847100 rs1178256987 |
246 | S>* | No |
ClinGen gnomAD |
|
|
rs764487553 CA6566672 |
247 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6566671 rs763261479 |
249 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6566669 rs770229023 COSM1362304 |
249 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6566670 rs770229023 |
249 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA384847000 rs1592344003 |
253 | I>N | No |
ClinGen Ensembl |
|
|
rs776768555 CA6566667 |
255 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA384846953 rs1226284709 |
256 | A>P | No |
ClinGen gnomAD |
|
|
rs1226284709 CA384846951 |
256 | A>T | No |
ClinGen gnomAD |
|
|
rs771120607 CA6566666 |
258 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384846911 rs1451494521 |
259 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774056905 CA6566664 |
260 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384846841 rs1285163252 |
263 | V>I | No |
ClinGen TOPMed |
|
|
rs1329917035 CA384846830 |
264 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384846771 rs1288170304 |
267 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6566661 rs780142114 |
269 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA236247660 rs977243930 |
272 | H>R | No |
ClinGen TOPMed |
|
|
CA384846458 rs1221199989 |
278 | S>Y | No |
ClinGen TOPMed |
|
|
rs1261374462 CA384846451 |
279 | R>G | No |
ClinGen TOPMed |
|
|
CA6566644 rs775409589 |
279 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6566643 rs769900352 |
280 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6566642 rs144760146 |
280 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6566641 rs780950012 |
281 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6566640 rs746447913 |
283 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384846392 rs777409764 |
283 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs777409764 CA6566638 |
283 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6566639 rs746447913 |
283 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17222449 CA6566636 |
290 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6566635 rs765567478 |
291 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs374380241 CA6566634 |
293 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325436166 CA384846255 |
294 | K>T | No |
ClinGen gnomAD |
|
|
rs1412124035 CA384846247 |
295 | Y>H | No |
ClinGen TOPMed |
|
|
rs766750713 CA6566632 |
300 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA384846193 rs1159452005 |
302 | I>T | No |
ClinGen TOPMed |
|
|
CA236246773 rs749231847 |
304 | L>F | No |
ClinGen Ensembl |
|
|
rs1301192036 CA384846172 CA384846173 |
305 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1158327500 CA384846158 |
308 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759201714 CA6566624 |
312 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1290837795 CA384846111 |
315 | V>I | No |
ClinGen gnomAD |
|
|
CA6566622 rs770707858 |
320 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1481350694 CA384846072 |
321 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746598216 CA6566621 |
325 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6566619 rs368662740 |
328 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368662740 CA6566618 |
328 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA236245957 rs769713736 |
331 | V>A | No |
ClinGen TOPMed |
|
|
rs1253604047 CA384845596 |
331 | V>L | No |
ClinGen gnomAD |
|
|
rs778552709 CA6566600 |
334 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs375554406 CA6566597 |
337 | T>S | No |
ClinGen ESP ExAC |
|
|
rs780255253 CA6566596 |
339 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs747088305 CA6566595 |
341 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs747088305 CA384845425 |
341 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs747088305 CA236245926 |
341 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs750997531 CA6566594 |
342 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs781745809 CA6566593 |
344 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751620934 CA6566591 |
347 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA236245897 rs76100916 |
354 | V>G | No |
ClinGen Ensembl |
|
|
CA384845166 rs1330606863 |
354 | V>M | No |
ClinGen gnomAD |
|
|
rs199762460 CA236245890 |
355 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA384845117 rs1463955145 |
356 | I>V | No |
ClinGen gnomAD |
|
|
rs772266385 CA236245879 |
359 | G>A | No |
ClinGen Ensembl |
|
|
rs1337516910 CA384843881 |
364 | G>E | No |
ClinGen gnomAD |
|
|
rs747145468 CA6566573 |
365 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236244558 rs920445713 |
366 | Y>C | No |
ClinGen Ensembl |
|
|
rs1347124243 CA384843760 |
371 | A>S | No |
ClinGen gnomAD |
|
|
rs777693391 CA6566572 |
372 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs758688314 CA6566571 |
373 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752898041 CA6566570 |
374 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA384843719 rs1424852559 |
374 | I>V | No |
ClinGen gnomAD |
|
|
CA384843692 rs1160083091 |
375 | W>* | No |
ClinGen gnomAD |
|
|
rs1156352582 CA384843681 |
376 | A>T | No |
ClinGen gnomAD |
|
|
rs1470867532 CA384843670 |
377 | V>M | No |
ClinGen gnomAD |
|
|
CA384843624 rs1235160199 |
381 | A>T | No |
ClinGen gnomAD |
|
|
CA6566569 rs765454992 |
384 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6566568 rs755918883 |
391 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA384843509 rs1490585847 |
392 | Y>C | No |
ClinGen gnomAD |
|
|
rs1424010456 CA384843494 |
393 | S>C | No |
ClinGen TOPMed |
|
|
rs1565991584 CA384843457 |
395 | Q>H | No |
ClinGen Ensembl |
|
|
CA384843414 rs1159549191 |
398 | M>V | No |
ClinGen TOPMed |
|
|
CA384843386 rs1346761921 |
399 | E>V | No |
ClinGen TOPMed |
|
|
CA6566535 rs772567851 |
406 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs779025444 CA6566533 |
407 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs748246644 CA384843171 |
407 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748246644 CA6566534 |
407 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1362303 rs768901870 CA6566532 |
408 | R>C | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA384843166 rs1242888974 |
408 | R>H | No |
ClinGen gnomAD |
|
|
rs749540540 CA6566531 |
410 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6566530 rs780197418 |
411 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM940410 rs759374719 CA6566529 |
411 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA384843124 rs121918366 |
416 | R>G | No |
ClinGen ESP TOPMed |
|
|
rs1204148888 CA384843122 |
416 | R>H | No |
ClinGen gnomAD |
|
|
rs751300128 CA6566528 |
418 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs758341964 CA6566526 |
419 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6566523 rs762002020 |
421 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393128443 CA384843088 |
422 | P>S | No |
ClinGen TOPMed |
|
|
CA384843082 rs1326544455 |
423 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs774425666 CA236243821 |
427 | A>S | No |
ClinGen Ensembl |
|
|
rs1409401702 CA384843022 |
432 | V>A | No |
ClinGen TOPMed |
|
|
CA6566521 rs766075262 |
434 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6566518 rs749571502 |
437 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384842959 rs1231153542 |
441 | F>S | No |
ClinGen TOPMed |
|
|
rs28651478 CA236243757 |
442 | L>M | No |
ClinGen Ensembl |
|
|
CA6566517 rs775540300 |
444 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs774796819 CA384842906 |
445 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198082657 CA384842869 |
447 | S>N | No |
ClinGen TOPMed |
|
|
CA6566515 rs768742388 |
449 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6566499 rs118034836 |
451 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1292025565 CA384842705 |
453 | A>T | No |
ClinGen gnomAD |
|
|
CA236243473 rs267603504 |
454 | L>F | No |
ClinGen Ensembl |
|
|
CA384842674 rs1565988430 |
455 | I>V | No |
ClinGen Ensembl |
|
|
CA384842641 rs1565988388 |
457 | I>V | No |
ClinGen Ensembl |
|
|
CA6566496 rs774849772 |
458 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA384842612 rs1262844054 |
459 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1053829885 CA236243466 |
459 | T>P | No |
ClinGen Ensembl |
|
|
rs1252424347 CA384842605 |
460 | F>L | No |
ClinGen TOPMed |
|
|
CA384842593 rs1302884772 |
461 | T>A | No |
ClinGen gnomAD |
|
|
CA6566492 rs376433484 |
464 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775534857 CA6566493 |
464 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA236243442 rs971396877 |
465 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6566491 rs138708886 |
466 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776677707 CA6566490 |
467 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776677707 CA384842518 |
467 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771926217 CA6566489 |
468 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA236243422 rs112638348 |
472 | N>D | No |
ClinGen Ensembl |
|
|
rs779001779 CA6566487 |
472 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs754965045 CA6566486 |
473 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6566473 rs199589052 |
477 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1555216476 CA6566471 |
477 | R>Q | No |
ClinGen Ensembl |
|
|
CA384841649 rs199589052 |
477 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1382916920 CA384841621 |
478 | I>S | No |
ClinGen gnomAD |
|
|
CA384841624 rs1382916920 |
478 | I>T | No |
ClinGen gnomAD |
|
|
CA6566469 rs748026142 |
478 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA236242796 rs1001114110 |
481 | G>E | No |
ClinGen TOPMed |
|
|
rs768766434 CA6566467 |
482 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA384841547 rs768766434 |
482 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769942052 CA6566466 |
484 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565986745 CA384841454 |
486 | I>T | No |
ClinGen Ensembl |
|
|
rs546007195 CA236242790 |
486 | I>V | No |
ClinGen Ensembl |
|
|
CA384841427 rs1460258818 |
487 | I>M | No |
ClinGen gnomAD |
|
|
CA384841444 rs1167152845 |
487 | I>V | No |
ClinGen gnomAD |
|
|
CA384841418 rs1374503370 |
488 | C>G | No |
ClinGen gnomAD |
|
|
rs1348851332 CA384841350 |
491 | N>H | No |
ClinGen TOPMed |
|
|
CA384841309 rs1409441088 |
492 | M>V | No |
ClinGen TOPMed |
|
|
rs755660977 CA6566464 |
493 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384841237 CA384841236 rs1231215068 |
495 | V>L | No |
ClinGen TOPMed |
|
|
rs1274757816 CA384841214 |
496 | V>E | No |
ClinGen TOPMed |
|
|
CA6566461 rs756888979 |
499 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384841174 rs756888979 |
499 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758722269 COSM3931647 COSM1747039 CA6566458 |
500 | R>P | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6566459 rs17216086 |
500 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384841082 rs1358849738 |
505 | V>M | No |
ClinGen gnomAD |
|
|
rs200740104 CA236242710 |
508 | Y>H | No |
ClinGen Ensembl |
|
|
rs1383503493 CA384840998 |
510 | V>L | No |
ClinGen gnomAD |
|
|
rs746236652 CA6566456 |
511 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA384840960 rs1398290159 |
513 | V>L | No |
ClinGen gnomAD |
|
|
CA384840934 rs1592318564 |
514 | V>G | No |
ClinGen Ensembl |
|
|
rs1298415051 CA384840920 |
515 | S>N | No |
ClinGen gnomAD |
|
|
rs372439379 COSM940407 CA6566455 |
516 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1430918254 CA384840895 |
518 | Y>S | No |
ClinGen TOPMed |
|
|
rs1164984644 CA384840881 |
520 | G>V | No |
ClinGen gnomAD |
|
|
rs777047354 CA6566454 |
521 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369617023 CA384840855 |
524 | Y>C | No |
ClinGen gnomAD |
|
|
CA6566439 rs779542996 |
526 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA236241013 rs961100535 |
531 | I>V | No |
ClinGen Ensembl |
|
|
rs866694047 CA236240986 |
534 | G>D | No |
ClinGen Ensembl |
|
|
COSM548689 CA6566433 rs767778859 |
535 | M>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1343340960 CA384840481 |
537 | F>S | No |
ClinGen gnomAD |
|
|
CA6566432 rs139984159 |
541 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA236240948 rs139984159 |
541 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1284824710 CA384840417 |
541 | G>W | No |
ClinGen gnomAD |
|
|
CA6566430 rs369530092 |
543 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6566431 rs369530092 |
543 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384839130 rs1249042755 |
544 | C>F | No |
ClinGen gnomAD |
|
|
CA236235111 rs12831023 |
545 | H>Q | No |
ClinGen Ensembl |
|
|
CA6566316 rs774386538 |
546 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6566315 rs768918190 |
547 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1354664246 CA384839110 |
548 | L>V | No |
ClinGen gnomAD |
|
|
CA384839103 rs1565971627 |
549 | T>A | No |
ClinGen Ensembl |
|
|
rs1295393509 CA384839098 |
550 | A>T | No |
ClinGen gnomAD |
|
|
rs749549333 CA6566314 |
552 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1300966011 CA384839060 |
555 | Y>* | No |
ClinGen TOPMed |
|
|
CA6566313 rs761881038 |
555 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA384839056 rs1592284730 |
556 | L>F | No |
ClinGen Ensembl |
|
|
CA236235071 rs922878721 |
560 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6566312 rs200811113 |
562 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6566311 rs200811113 |
562 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with P49281
[MIM: 206100]: Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1)
A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis. {ECO:0000269|PubMed:15459009, ECO:0000269|PubMed:16160008, ECO:0000269|PubMed:16439678}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis. {ECO:0000269|PubMed:15459009, ECO:0000269|PubMed:16160008, ECO:0000269|PubMed:16439678}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P49281
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P49281 | |||
Functions
24 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical part of cell | The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. |
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| basal part of cell | The region of a cell situated near the base. For example, in a polarized epithelial cell, the basal surface rests on the basal lamina that separates the epithelium from other tissue. |
| brush border membrane | The portion of the plasma membrane surrounding the brush border. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| extracellular vesicle | Any vesicle that is part of the extracellular region. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| paraferritin complex | A cytoplasmic protein complex that contains integrin, mobilferrin and a flavin monooxygenase, is capable of reducing Fe(III) to Fe(II) utilizing NADPH, and is involved in iron transport. Fe(II) is required in the cell as the substrate for ferrochelatase in the synthesis of heme. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| recycling endosome | An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
| vacuole | A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. |
15 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadmium ion binding | Binding to a cadmium ion (Cd). |
| cadmium ion transmembrane transporter activity | Enables the transfer of cadmium (Cd) ions from one side of a membrane to the other. |
| cobalt ion transmembrane transporter activity | Enables the transfer of cobalt (Co) ions from one side of a membrane to the other. |
| copper ion transmembrane transporter activity | Enables the transfer of copper (Cu) ions from one side of a membrane to the other. |
| ferrous iron transmembrane transporter activity | Enables the transfer of ferrous iron (Fe(II) or Fe2+) ions from one side of a membrane to the other. |
| inorganic cation transmembrane transporter activity | Enables the transfer of inorganic cations from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage. |
| iron ion transmembrane transporter activity | Enables the transfer of iron (Fe) ions from one side of a membrane to the other. |
| lead ion transmembrane transporter activity | Enables the transfer of lead (Pb) ions from one side of a membrane to the other. |
| manganese ion transmembrane transporter activity | Enables the transfer of manganese (Mn) ions from one side of a membrane to the other. |
| nickel cation transmembrane transporter activity | Enables the transfer of nickel (Ni) cations from one side of a membrane to the other. |
| retromer complex binding | Binding to a retromer complex. |
| solute:proton symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: solute(out) + H+(out) = solute(in) + H+(in). |
| transition metal ion transmembrane transporter activity | Enables the transfer of transition metal ions from one side of a membrane to the other. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. |
| vanadium ion transmembrane transporter activity | Enables the transfer of vanadium (V) ions from one side of a membrane to the other. |
| zinc ion transmembrane transporter activity | Enables the transfer of zinc (Zn) ions from one side of a membrane to the other. |
21 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process. |
| cadmium ion transmembrane transport | A process in which a cadmium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| cellular iron ion homeostasis | Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. |
| cellular response to oxidative stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| cobalt ion transport | The directed movement of cobalt (Co) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| copper ion transport | The directed movement of copper (Cu) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| dendrite morphogenesis | The process in which the anatomical structures of a dendrite are generated and organized. |
| detection of oxygen | The series of events in which an oxygen stimulus is received by a cell and converted into a molecular signal. |
| erythrocyte development | The process whose specific outcome is the progression of an erythrocyte over time, from its formation to the mature structure. |
| heme biosynthetic process | The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors. |
| iron import into cell | The directed movement of iron ions from outside of a cell into the cytoplasmic compartment. This may occur via transport across the plasma membrane or via endocytosis. |
| iron ion transmembrane transport | A process in which an iron ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| iron ion transport | The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| lead ion transport | The directed movement of lead (Pb) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| learning or memory | The acquisition and processing of information and/or the storage and retrieval of this information over time. |
| manganese ion transport | The directed movement of manganese (Mn) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| multicellular organismal iron ion homeostasis | Any process involved in the maintenance of the distribution of iron stores within tissues and organs of a multicellular organism. |
| nickel cation transport | The directed movement of nickel (Ni) cations into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| response to hypoxia | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| response to iron ion | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an iron ion stimulus. |
| vanadium ion transport | The directed movement of vanadium (V) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q27981 | SLC11A1 | Natural resistance-associated macrophage protein 1 | Bos taurus (Bovine) | PR |
| P49279 | SLC11A1 | Natural resistance-associated macrophage protein 1 | Homo sapiens (Human) | PR |
| P41251 | Slc11a1 | Natural resistance-associated macrophage protein 1 | Mus musculus (Mouse) | PR |
| P49282 | Slc11a2 | Natural resistance-associated macrophage protein 2 | Mus musculus (Mouse) | PR |
| O77741 | SLC11A1 | Natural resistance-associated macrophage protein 1 | Sus scrofa (Pig) | PR |
| P70553 | Slc11a1 | Natural resistance-associated macrophage protein 1 | Rattus norvegicus (Rat) | PR |
| O54902 | Slc11a2 | Natural resistance-associated macrophage protein 2 | Rattus norvegicus (Rat) | PR |
| Q6ZG85 | NRAT1 | Metal transporter NRAT1 | Oryza sativa subsp japonica (Rice) | PR |
| Q2QN30 | NRAMP6 | Metal transporter Nramp6 | Oryza sativa subsp japonica (Rice) | PR |
| Q9SNV9 | NRAMP3 | Metal transporter Nramp3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SN36 | NRAMP5 | Metal transporter Nramp5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C6B2 | NRAMP2 | Metal transporter Nramp2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVLGPEQKMS | DDSVSGDHGE | SASLGNINPA | YSNPSLSQSP | GDSEEYFATY | FNEKISIPEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EYSCFSFRKL | WAFTGPGFLM | SIAYLDPGNI | ESDLQSGAVA | GFKLLWILLL | ATLVGLLLQR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LAARLGVVTG | LHLAEVCHRQ | YPKVPRVILW | LMVELAIIGS | DMQEVIGSAI | AINLLSVGRI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PLWGGVLITI | ADTFVFLFLD | KYGLRKLEAF | FGFLITIMAL | TFGYEYVTVK | PSQSQVLKGM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FVPSCSGCRT | PQIEQAVGIV | GAVIMPHNMY | LHSALVKSRQ | VNRNNKQEVR | EANKYFFIES |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CIALFVSFII | NVFVVSVFAE | AFFGKTNEQV | VEVCTNTSSP | HAGLFPKDNS | TLAVDIYKGG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VVLGCYFGPA | ALYIWAVGIL | AAGQSSTMTG | TYSGQFVMEG | FLNLKWSRFA | RVVLTRSIAI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IPTLLVAVFQ | DVEHLTGMND | FLNVLQSLQL | PFALIPILTF | TSLRPVMSDF | ANGLGWRIAG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GILVLIICSI | NMYFVVVYVR | DLGHVALYVV | AAVVSVAYLG | FVFYLGWQCL | IALGMSFLDC |
| 550 | 560 | ||||
| GHTCHLGLTA | QPELYLLNTM | DADSLVSR |