Q8IVJ1
PR
Gene name |
SLC41A1 |
Protein name |
Solute carrier family 41 member 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:254428 |
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
1 structures for Q8IVJ1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IVJ1-F1 | Predicted | AlphaFoldDB |
351 variants for Q8IVJ1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_086146 | 233 | G>V | NPHPL2; results in exon 6 skipping; results in loss of magnesium ion transmembrane transporter activity; does not affect localization to basolateral cell membrane [UniProt] | Yes | UniProt |
|
CA1357504 rs781431977 |
2 | S>P | No |
ClinGen ExAC |
|
|
rs1256245798 CA344437394 |
3 | S>C | No |
ClinGen gnomAD |
|
|
rs202091458 CA1357502 |
4 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1357501 rs765275942 |
6 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1357500 rs759228574 |
7 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA344437351 rs149949112 |
9 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1357496 rs142051990 |
10 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1357495 rs533359583 |
11 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1203289927 CA344437313 |
15 | G>E | No |
ClinGen gnomAD |
|
|
CA1357492 rs544260153 |
15 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981475846 CA36482040 |
18 | P>A | No |
ClinGen TOPMed |
|
|
CA1357491 rs749578494 |
18 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs770081187 CA1357489 |
22 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1357486 rs757266827 |
26 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1357487 rs375030989 |
26 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178177028 CA344437245 |
27 | G>S | No |
ClinGen gnomAD |
|
|
CA1357485 rs747162664 |
28 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA344437235 rs747162664 |
28 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1357484 rs778683939 |
29 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs145968676 CA36482034 |
29 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA344437233 rs145968676 |
29 | G>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA344437223 rs1353943276 |
31 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1353943276 CA344437222 |
31 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs370848741 CA1357483 |
33 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753574596 CA1357482 |
35 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA36482003 rs865967463 |
35 | G>R | No |
ClinGen Ensembl |
|
|
rs1361228272 CA344437186 |
37 | S>P | No |
ClinGen gnomAD |
|
|
CA344437179 rs1185238468 |
38 | E>K | No |
ClinGen TOPMed |
|
|
CA1357479 rs750063790 |
39 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1357480 rs750063790 |
39 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 41 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344437152 rs1331416201 |
42 | P>R | No |
ClinGen gnomAD |
|
|
CA1357478 rs767210276 |
43 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1357476 rs773946620 |
44 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs761202386 CA1357477 |
44 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA344437138 rs1459639476 |
45 | A>T | No |
ClinGen gnomAD |
|
|
CA1357475 rs764463507 |
45 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1571653115 CA344437125 |
47 | V>G | No |
ClinGen Ensembl |
|
|
rs144042954 CA1357474 |
47 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144042954 CA36481930 |
47 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344437115 rs1412897596 |
49 | V>M | No |
ClinGen TOPMed |
|
|
CA36481917 rs532021690 |
51 | I>T | No |
ClinGen Ensembl |
|
|
CA344437091 rs1455087665 |
52 | E>D | No |
ClinGen TOPMed |
|
|
rs1240135885 CA344437086 |
53 | S>C | No |
ClinGen gnomAD |
|
|
CA1357472 rs146127627 |
54 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA36481916 rs957512780 |
54 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1266393761 CA344437074 |
56 | N>D | No |
ClinGen gnomAD |
|
|
CA1357471 rs374381413 |
56 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1031814971 CA36481909 |
57 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA344437064 rs1372458230 |
57 | A>V | No |
ClinGen gnomAD |
|
|
CA1357469 rs771225135 |
58 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344437046 rs1571653043 |
60 | V>G | No |
ClinGen Ensembl |
|
|
rs747018245 CA1357468 |
60 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777929982 CA1357467 |
61 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36481903 rs998955677 |
61 | R>W | No |
ClinGen TOPMed |
|
|
rs371408446 CA1357465 |
63 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA344437017 rs1297774615 |
65 | A>D | No |
ClinGen gnomAD |
|
|
rs755881998 CA1357463 |
65 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756959082 CA1357460 |
70 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183507299 CA344436948 |
75 | E>A | No |
ClinGen gnomAD |
|
|
CA344436951 rs1377050643 |
75 | E>K | No |
ClinGen gnomAD |
|
|
CA344436922 rs372618362 |
78 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1357458 rs780018493 |
78 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1357455 rs369337468 |
79 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776123205 CA1357456 |
79 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776123205 CA344436919 |
79 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344436913 rs1285745765 |
80 | S>T | No |
ClinGen gnomAD |
|
|
rs777167037 CA1357453 |
81 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs777167037 CA1357454 |
81 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs771008075 CA1357452 |
83 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760963832 CA1357451 |
83 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773375948 CA1357450 |
84 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA344436888 rs773375948 |
84 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs779938992 CA344436877 |
86 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779938992 CA1357447 |
86 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745697767 CA1357443 |
90 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745697767 CA36481713 |
90 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222047315 CA344436853 |
91 | L>I | No |
ClinGen TOPMed |
|
|
CA344436849 rs1176988872 |
91 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 93 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1357440 rs777344557 |
94 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA344436826 rs1477928127 |
95 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1357437 rs760139807 |
98 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302150828 CA344436707 |
113 | T>S | No |
ClinGen TOPMed |
|
|
rs772224309 CA1357431 |
114 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA344436700 rs1219676996 |
115 | A>S | No |
ClinGen gnomAD |
|
|
CA1357430 rs761845326 |
115 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 116 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769663386 CA1357428 |
118 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344436670 rs1571652754 |
119 | V>G | No |
ClinGen Ensembl |
|
|
CA344436675 rs1341082978 |
119 | V>M | No |
ClinGen gnomAD |
|
|
rs140750630 CA1357426 |
122 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745814029 CA1357427 |
122 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344436653 rs1338852106 |
122 | I>V | No |
ClinGen gnomAD |
|
|
rs1169671986 CA344436649 |
123 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs746824192 CA1357424 |
124 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404388456 CA344436101 |
130 | Q>R | No |
ClinGen gnomAD |
|
|
rs1385521698 CA344436086 |
132 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746778023 CA1357407 |
133 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1357405 rs771790073 |
141 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA344435994 rs1174449674 |
147 | G>R | No |
ClinGen TOPMed |
|
|
rs773074552 CA1357386 |
161 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1357385 rs771988040 |
162 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA344435752 rs745880418 |
163 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745880418 CA1357384 |
163 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397744812 CA344435757 |
163 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA36476674 rs142919523 |
165 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 167 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768456134 CA1357382 |
168 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA344435569 rs1175890033 |
172 | L>F | No |
ClinGen gnomAD |
|
|
rs748787049 CA1357381 |
172 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1357379 rs756582015 |
174 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1357380 rs368353061 |
174 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344435482 rs1257968625 |
176 | I>F | No |
ClinGen TOPMed |
|
|
rs942743583 CA36476660 |
176 | I>T | No |
ClinGen Ensembl |
|
|
rs534062154 CA1357378 |
177 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344435418 rs1202945901 |
180 | M>T | No |
ClinGen gnomAD |
|
|
CA1357375 rs751958578 |
180 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344435407 rs1571644102 |
181 | A>T | No |
ClinGen Ensembl |
|
|
rs1264741003 CA344435374 |
183 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 186 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376658619 CA36476242 |
188 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs754983004 CA1357351 |
189 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1446482081 CA344434225 |
192 | F>L | No |
ClinGen gnomAD |
|
|
rs1378557393 CA344434192 |
194 | A>E | No |
ClinGen gnomAD |
|
|
rs1378557393 CA344434191 COSM1226358 |
194 | A>V | Variant assessed as Somatic; 0.0 impact. NS large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1357348 rs761859034 |
196 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1051712718 CA344434158 |
197 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA36476210 rs1051712718 |
197 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774979702 CA1357344 |
199 | V>G | No |
ClinGen ExAC |
|
|
rs567245366 CA1357345 |
199 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1357342 rs371608595 |
200 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs969464423 CA344434075 CA36476177 |
203 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1357340 rs771369142 |
205 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1303920116 CA344434035 |
206 | D>E | No |
ClinGen gnomAD |
|
|
CA1357339 rs747516634 |
206 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747516634 CA36476160 |
206 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426807212 CA344434024 |
207 | G>V | No |
ClinGen gnomAD |
|
|
CA1357337 rs778410477 |
208 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1469539911 CA344434000 |
209 | F>I | No |
ClinGen gnomAD |
|
|
CA344433980 rs1364363245 |
210 | S>N | No |
ClinGen gnomAD |
|
|
CA344433969 rs1249237310 |
211 | I>F | No |
ClinGen TOPMed |
|
|
rs772310058 CA1357336 |
212 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753912617 CA1357332 |
214 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA344433911 rs1283224089 |
215 | F>V | No |
ClinGen gnomAD |
|
|
CA1357330 rs756332055 |
218 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs751534264 CA1357329 |
218 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA344433860 rs1171955830 |
219 | A>T | No |
ClinGen TOPMed |
|
|
rs1571643273 CA344433846 |
220 | S>G | No |
ClinGen Ensembl |
|
|
CA344433812 COSM902834 rs1466143973 |
222 | V>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1284437508 CA344433795 COSM241654 |
223 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA1357327 rs527338610 |
227 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA36476119 rs1970469 |
231 | V>E | No |
ClinGen Ensembl |
|
|
CA36476109 rs1037322567 |
232 | L>R | No |
ClinGen Ensembl |
|
|
CA344433615 rs1177093217 |
234 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758381035 CA1357310 |
235 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1357309 rs758381035 |
235 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1357311 rs376304533 |
235 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344433569 rs1166896396 |
237 | I>F | No |
ClinGen gnomAD |
|
|
rs1475568456 CA344433553 |
239 | V>I | No |
ClinGen gnomAD |
|
|
CA344433534 rs1250867705 |
240 | I>V | No |
ClinGen gnomAD |
|
|
rs752373135 CA1357308 |
241 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388765397 CA344433506 |
242 | G>S | No |
ClinGen TOPMed |
|
|
CA1357307 rs765083575 |
244 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1357306 COSM1744394 rs373421823 |
244 | R>H | biliary_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs1452050165 CA344433450 |
246 | I>T | No |
ClinGen gnomAD |
|
|
CA344433438 rs1206157810 |
247 | G>E | No |
ClinGen gnomAD |
|
|
CA344433418 rs1571643008 |
249 | N>T | No |
ClinGen Ensembl |
|
|
CA344433378 rs1272758564 |
251 | D>G | No |
ClinGen gnomAD |
|
|
rs1341782720 CA344433336 |
253 | V>M | No |
ClinGen gnomAD |
|
|
rs1245273440 CA344433322 |
254 | A>T | No |
ClinGen gnomAD |
|
|
CA344433150 rs1379981106 |
265 | I>V | No |
ClinGen Ensembl |
|
|
CA1357297 rs749723115 |
268 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344433091 rs1410156705 |
268 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770168845 CA1357295 |
270 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs745882348 CA1357294 |
271 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1456869784 CA344433031 |
273 | I>V | No |
ClinGen gnomAD |
|
|
CA36475954 rs184474693 CA1357290 |
275 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1357291 rs748110571 |
275 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540235018 CA1357289 |
278 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344432932 rs1287941345 |
279 | L>P | No |
ClinGen gnomAD |
|
|
CA1357278 rs770081068 |
282 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs759806147 CA1357277 |
283 | H>Y | No |
ClinGen ExAC |
|
|
CA344432839 rs776783815 |
285 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1357276 rs776783815 |
285 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344432827 rs1316440309 |
287 | I>V | No |
ClinGen gnomAD |
|
|
CA1357274 rs143162532 |
288 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143162532 CA344432819 |
288 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs529498984 CA1357273 |
291 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1224280085 CA344432802 |
291 | V>L | No |
ClinGen gnomAD |
|
|
rs749025118 CA1357271 |
292 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1345798664 CA344432781 |
294 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA344432779 rs1393128936 COSM1338232 |
294 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1450946191 CA344432768 |
296 | V>A | No |
ClinGen gnomAD |
|
|
CA1357270 rs779830560 |
296 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779830560 CA344432770 |
296 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 297 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1357268 rs750079228 |
299 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 303 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344432721 rs1393049612 |
304 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs972774619 CA36475610 |
305 | L>P | No |
ClinGen TOPMed |
|
|
CA344432709 rs1199192246 |
306 | A>V | No |
ClinGen gnomAD |
|
|
rs560410634 CA1357265 |
307 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1357264 rs764642616 |
308 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753040877 CA1357262 |
311 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1216396362 CA344432671 |
313 | R>K | No |
ClinGen gnomAD |
|
|
CA344432653 rs1571642271 |
315 | V>G | No |
ClinGen Ensembl |
|
|
CA36475574 rs961388605 |
316 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1357260 rs533142067 |
318 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA36475569 rs879002782 |
323 | V>D | No |
ClinGen Ensembl |
|
|
rs771097997 CA344432599 |
324 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1380182690 CA344432596 |
324 | I>T | No |
ClinGen gnomAD |
|
|
rs771097997 CA1357258 |
324 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs773292995 CA1357256 |
327 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA344432579 rs1289008671 |
327 | M>V | No |
ClinGen gnomAD |
|
|
rs768515223 CA1357255 |
329 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1173885958 CA344432230 |
332 | V>L | No |
ClinGen TOPMed |
|
|
rs770546771 CA1357231 |
338 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs977615914 CA36475160 |
339 | K>E | No |
ClinGen Ensembl |
|
|
CA1357230 rs746652764 |
341 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1206863512 CA344432028 |
344 | P>S | No |
ClinGen gnomAD |
|
|
CA36475154 rs967613211 |
345 | N>I | No |
ClinGen Ensembl |
|
|
CA344432001 rs1297071483 |
345 | N>K | No |
ClinGen TOPMed |
|
|
CA36475153 rs371186648 |
346 | F>L | No |
ClinGen ESP TOPMed |
|
|
CA344431986 rs1356573214 |
346 | F>S | No |
ClinGen gnomAD |
|
|
rs1356573214 CA344431992 |
346 | F>Y | No |
ClinGen gnomAD |
|
|
rs1558079621 CA344431976 |
347 | A>P | No |
ClinGen Ensembl |
|
|
rs1313817964 CA344431959 |
348 | G>E | No |
ClinGen gnomAD |
|
|
rs1021542840 CA36475152 |
348 | G>R | No |
ClinGen Ensembl |
|
|
CA1357228 rs757958496 |
349 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342826945 CA344431932 |
350 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA344431931 rs1342826945 |
350 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1338230 rs1305279636 CA344431926 VAR_086248 |
350 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine increased magnesium ion transmembrane transporter activity; no effect on plasma membrane localization [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt NCI-TCGA dbSNP gnomAD |
|
rs557427531 CA36475150 |
351 | V>I | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 353 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344431825 rs1369981675 |
354 | P>A | No |
ClinGen TOPMed |
|
|
rs1365030599 CA344431794 |
355 | V>A | No |
ClinGen gnomAD |
|
|
CA344431785 rs1305981999 |
356 | I>V | No |
ClinGen TOPMed |
|
|
rs1425195789 CA344431707 |
357 | N>S | No |
ClinGen gnomAD |
|
|
rs1370065211 CA344431684 |
358 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 361 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141130460 CA36474319 |
365 | A>E | No |
ClinGen ESP |
|
|
rs1259124654 CA344431208 |
365 | A>T | No |
ClinGen gnomAD |
|
|
CA344431189 rs1205055635 |
366 | V>A | No |
ClinGen gnomAD |
|
|
rs1571640001 CA344431173 |
367 | Q>R | No |
ClinGen Ensembl |
|
|
CA344431163 rs1571639995 |
368 | A>P | No |
ClinGen Ensembl |
|
|
COSM425121 rs1270385012 CA344431128 |
370 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA344431121 rs1362661211 |
370 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA344431104 rs1323309767 |
371 | I>N | No |
ClinGen gnomAD |
|
|
rs1323309767 CA344431102 |
371 | I>T | No |
ClinGen gnomAD |
|
|
rs1324753541 CA344431048 |
374 | F>L | No |
ClinGen gnomAD |
|
|
rs1438897657 CA344431061 |
374 | F>L | No |
ClinGen gnomAD |
|
|
CA344431031 rs1317812046 |
376 | H>Y | No |
ClinGen gnomAD |
|
|
CA344431015 rs1474259612 |
377 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 380 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA36474304 rs371237657 |
382 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA1357203 rs577344199 |
382 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs79158248 CA36474299 |
384 | N>D | No |
ClinGen Ensembl |
|
|
rs371829065 CA36474294 |
385 | S>C | No |
ClinGen Ensembl |
|
|
CA344430948 rs1296916118 |
386 | E>D | No |
ClinGen TOPMed |
|
|
rs1241296990 CA344430937 |
388 | A>S | No |
ClinGen TOPMed |
|
|
rs1048043405 CA36474288 |
388 | A>V | No |
ClinGen gnomAD |
|
|
rs781347037 CA1357201 |
390 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781347037 CA344430927 |
390 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760882426 CA1357200 |
390 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA36474280 rs563680505 |
391 | R>C | No |
ClinGen gnomAD |
|
|
rs368438972 CA1357199 |
391 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344430916 rs1558078918 |
392 | C>Y | No |
ClinGen Ensembl |
|
|
rs1447096783 CA344430911 |
393 | P>A | No |
ClinGen gnomAD |
|
|
CA344430883 rs1442423278 |
397 | T>A | No |
ClinGen TOPMed |
|
|
CA1357198 rs764080771 |
399 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344430866 rs1208667106 |
399 | F>L | No |
ClinGen gnomAD |
|
|
CA36474251 rs145511482 |
401 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145511482 CA1357197 |
401 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1357196 rs753699052 |
402 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs747442916 CA1357161 |
403 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA344430568 rs1254763252 |
403 | D>G | No |
ClinGen TOPMed |
|
|
CA1357160 rs757760386 |
406 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1357159 rs758670096 |
407 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1055919390 CA36474002 |
407 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1055919390 CA344430518 |
407 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1357157 rs779138656 |
408 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA344430488 rs1379272843 |
410 | R>Q | No |
ClinGen TOPMed |
|
|
CA1357156 rs759319989 |
410 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36473990 rs913088171 |
411 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1357154 rs767601340 |
412 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344430440 rs1299484458 |
415 | L>V | No |
ClinGen TOPMed |
|
|
CA344430423 rs1352006609 |
416 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1357152 rs369862450 |
416 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA36473960 rs369862450 |
416 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1342062355 CA344430378 |
420 | H>Y | No |
ClinGen TOPMed |
|
|
rs775186819 CA1357149 |
425 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344430285 rs1354673155 |
427 | I>V | No |
ClinGen TOPMed |
|
|
rs764717309 CA1357148 |
428 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1357147 rs557487381 |
429 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 430 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA36473935 rs925572010 |
430 | M>T | No |
ClinGen Ensembl |
|
|
rs1160433699 CA344430205 |
432 | G>D | No |
ClinGen gnomAD |
|
|
CA1357145 rs771501446 |
433 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA344430145 rs1198966282 |
437 | L>I | No |
ClinGen gnomAD |
|
|
CA1357144 rs747288210 |
439 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1482946244 CA344430115 |
439 | L>R | No |
ClinGen TOPMed |
|
|
rs201009580 CA1357143 |
440 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA36473913 rs911635193 |
442 | I>V | No |
ClinGen Ensembl |
|
|
CA1357139 rs772193761 |
444 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222541745 CA344430029 |
445 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs781224024 CA1357137 |
447 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344429986 rs1270623920 |
448 | A>G | No |
ClinGen gnomAD |
|
|
rs371382007 CA1357136 |
449 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344429968 rs1319436378 |
449 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1345064818 CA344429959 |
451 | L>I | No |
ClinGen gnomAD |
|
|
rs1459086661 CA344429943 |
452 | Q>* | No |
ClinGen gnomAD |
|
|
CA344429701 rs1571636542 |
453 | V>G | No |
ClinGen Ensembl |
|
|
rs1365622627 CA344429676 |
455 | I>V | No |
ClinGen gnomAD |
|
|
rs371831150 CA344429658 |
456 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1357120 rs371831150 |
456 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769827791 CA36472600 |
459 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769827791 CA1357118 |
459 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777624232 CA1357116 |
460 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758162486 CA1357115 |
461 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1357114 rs752522987 |
464 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1357113 rs778489377 |
467 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1357112 rs767997513 |
469 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344429346 rs1274815605 |
470 | R>Q | No |
ClinGen gnomAD |
|
|
CA36472577 COSM106719 rs144675068 |
470 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1044906121 CA36472573 |
471 | G>D | No |
ClinGen Ensembl |
|
|
rs753279356 CA1357111 |
471 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs760152263 CA1357109 |
474 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1388611684 CA344429202 |
477 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1357106 rs762218635 |
478 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA36472556 rs148519712 |
485 | L>V | No |
ClinGen ESP |
|
| TCGA novel | 487 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344429004 rs768929818 |
489 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768929818 CA1357104 |
489 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769898798 CA344428880 |
496 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs769898798 CA1357101 |
496 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1357100 rs201682911 |
497 | S>G | No |
ClinGen 1000Genomes ExAC |
|
|
CA1357099 rs777728706 |
504 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1482545715 CA344428714 |
504 | I>M | No |
ClinGen gnomAD |
|
|
rs772023195 CA1357098 |
504 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs762552755 CA36472540 |
507 | R>* | No |
ClinGen TOPMed |
|
|
CA1357096 rs778685596 |
507 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356688288 CA344428667 |
508 | D>N | No |
ClinGen gnomAD |
|
|
rs753516125 CA1357094 |
509 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344428634 rs753516125 |
509 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558077509 CA344428597 |
511 | V>I | No |
ClinGen Ensembl |
|
|
CA36472493 rs977217060 |
512 | G>R | No |
ClinGen TOPMed |
1 associated diseases with Q8IVJ1
[MIM: 619468]: Nephronophthisis-like nephropathy 2 (NPHPL2)
A disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. NPHPL2 is an autosomal recessive form characterized by onset of progressive renal insufficiency in the first decades of life. {ECO:0000269|PubMed:23661805}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. NPHPL2 is an autosomal recessive form characterized by onset of progressive renal insufficiency in the first decades of life. {ECO:0000269|PubMed:23661805}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 regional properties for Q8IVJ1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SLC41A/MgtE, integral membrane domain | 139 - 272 | IPR006667-1 |
| domain | SLC41A/MgtE, integral membrane domain | 353 - 496 | IPR006667-2 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| integral component of membrane | The component of a 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| magnesium ion transmembrane transporter activity | Enables the transfer of magnesium (Mg) ions from one side of a membrane to the other. |
| magnesium:sodium antiporter activity | Catalysis of the reaction: Na+(in) + Mg2+(out) = Na+(out) + Mg2+(in). |
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular magnesium ion homeostasis | Any process involved in the maintenance of an internal steady state of magnesium ions at the level of a cell. |
| cellular response to magnesium ion | 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 a magnesium ion stimulus. |
| magnesium ion transmembrane transport | The directed movement of magnesium ion across a membrane. |
| magnesium ion transport | The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| metal ion transport | The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5ZHX6 | SLC41A2 | Solute carrier family 41 member 2 | Gallus gallus (Chicken) | PR |
| Q96JW4 | SLC41A2 | Solute carrier family 41 member 2 | Homo sapiens (Human) | PR |
| Q921R8 | Slc41a3 | Solute carrier family 41 member 3 | Mus musculus (Mouse) | PR |
| Q8BJA2 | Slc41a1 | Solute carrier family 41 member 1 | Mus musculus (Mouse) | PR |
| Q8BYR8 | Slc41a2 | Solute carrier family 41 member 2 | Mus musculus (Mouse) | PR |
| Q3SWT5 | Slc41a3 | Solute carrier family 41 member 3 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSKPEPKDV | HQLNGTGPSA | SPCSSDGPGR | EPLAGTSEFL | GPDGAGVEVV | IESRANAKGV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| REEDALLENG | SQSNESDDVS | TDRGPAPPSP | LKETSFSIGL | QVLFPFLLAG | FGTVAAGMVL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DIVQHWEVFQ | KVTEVFILVP | ALLGLKGNLE | MTLASRLSTA | ANIGHMDTPK | ELWRMITGNM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALIQVQATVV | GFLASIAAVV | FGWIPDGHFS | IPHAFLLCAS | SVATAFIASL | VLGMIMIGVI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IGSRKIGINP | DNVATPIAAS | LGDLITLALL | SGISWGLYLE | LNHWRYIYPL | VCAFFVALLP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VWVVLARRSP | ATREVLYSGW | EPVIIAMAIS | SVGGLILDKT | VSDPNFAGMA | VFTPVINGVG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GNLVAVQASR | ISTFLHMNGM | PGENSEQAPR | RCPSPCTTFF | SPDVNSRSAR | VLFLLVVPGH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LVFLYTISCM | QGGHTTLTLI | FIIFYMTAAL | LQVLILLYIA | DWMVHWMWGR | GLDPDNFSIP |
| 490 | 500 | 510 | |||
| YLTALGDLLG | TGLLALSFHV | LWLIGDRDTD | VGD |