Q14542
PR
Gene name |
SLC29A2 (DER12, ENT2, HNP36) |
Protein name |
Equilibrative nucleoside transporter 2 |
Names |
36 kDa nucleolar protein HNP36, Delayed-early response protein 12, Equilibrative nitrobenzylmercaptopurine riboside-insensitive nucleoside transporter, Equilibrative NBMPR-insensitive nucleoside transporter, Hydrophobic nucleolar protein, 36 kDa, Nucleoside transporter, ei-type, Solute carrier family 29 member 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3177 |
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 Q14542
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14542-F1 | Predicted | AlphaFoldDB |
396 variants for Q14542
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA381422988 rs765737939 |
2 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6121165 rs765737939 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381422985 rs1400484393 |
3 | R>* | No |
ClinGen gnomAD |
|
|
rs372428410 CA6121164 |
3 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372428410 CA381422983 |
3 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6121163 rs8187643 VAR_029289 |
5 | D>Y | decreased nucleoside and nucleobase transport [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1368675490 CA381422959 |
6 | A>S | No |
ClinGen gnomAD |
|
|
CA381422961 rs1368675490 |
6 | A>T | No |
ClinGen gnomAD |
|
|
rs1169198414 CA381422953 |
6 | A>V | No |
ClinGen gnomAD |
|
|
rs1476534744 CA381422942 |
7 | P>L | No |
ClinGen gnomAD |
|
|
CA381422935 rs1195058816 |
8 | R>Q | No |
ClinGen gnomAD |
|
|
CA224058168 rs368807390 |
9 | D>G | No |
ClinGen ESP TOPMed |
|
|
rs1267217977 CA381422922 |
9 | D>Y | No |
ClinGen gnomAD |
|
|
CA381422899 rs1041007017 |
10 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1041007017 CA224058163 |
10 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA381422835 rs1304870756 |
10 | S>R | No |
ClinGen gnomAD |
|
|
CA381422809 rs1174852202 |
12 | H>P | No |
ClinGen gnomAD |
|
|
CA224057951 rs908471249 |
14 | V>A | No |
ClinGen gnomAD |
|
|
CA381422786 rs1363590068 |
14 | V>F | No |
ClinGen gnomAD |
|
|
CA381422777 rs1443156871 |
15 | G>R | No |
ClinGen gnomAD |
|
|
CA6121140 rs200329495 |
17 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6121141 rs556729671 |
17 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381422665 rs1345541741 |
22 | G>E | No |
ClinGen gnomAD |
|
|
rs367849917 CA6121137 |
22 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6121136 rs779949046 |
24 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA381422650 rs1237669078 |
24 | G>R | No |
ClinGen gnomAD |
|
|
rs1590665797 CA381422642 |
25 | T>P | No |
ClinGen Ensembl |
|
|
rs374009080 CA381422615 |
27 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs560322038 CA224057927 |
27 | L>H | No |
ClinGen Ensembl |
|
|
CA6121135 rs374009080 |
27 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs920672925 CA224057926 |
28 | P>S | No |
ClinGen gnomAD |
|
|
CA381422566 rs1335543007 |
30 | N>K | No |
ClinGen gnomAD |
|
|
CA381422561 rs1397192761 |
31 | F>I | No |
ClinGen gnomAD |
|
|
CA381422549 rs1401519090 |
31 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1384858390 CA381422553 |
31 | F>Y | No |
ClinGen gnomAD |
|
|
CA381422531 rs1157283622 |
33 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381422529 rs1157283622 |
33 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6121132 rs547711857 |
35 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6121131 rs752849349 |
36 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs975364651 CA224057913 |
37 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6121108 rs780716709 |
41 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780716709 CA6121109 |
41 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767090901 CA6121105 |
42 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 42 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756704433 CA6121104 |
42 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 44 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6121102 rs763616474 |
45 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143066741 CA6121099 |
47 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224057059 rs202174697 |
47 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202174697 CA6121100 |
47 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6121095 rs748136429 |
48 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6121096 rs143010989 |
48 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6121094 rs146937376 |
52 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224057033 rs761974236 |
52 | R>K | No |
ClinGen Ensembl |
|
|
CA381422300 rs1456994472 |
52 | R>S | No |
ClinGen gnomAD |
|
|
rs754393543 CA6121092 |
55 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756512069 CA6121090 |
57 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs746422073 CA6121089 |
57 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200637398 CA6121088 |
59 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200637398 CA381422208 |
59 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1051385714 CA224057011 |
60 | G>R | No |
ClinGen Ensembl |
|
|
CA6121084 rs758105513 |
62 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs763824429 CA6121085 |
62 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752343540 CA6121083 |
63 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs765057905 CA6121082 |
64 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759276259 CA6121081 |
65 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs776661732 CA6121080 |
66 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038106635 CA381422089 |
67 | F>L | No |
ClinGen TOPMed |
|
|
rs766161515 CA6121079 |
67 | F>L | No |
ClinGen ExAC gnomAD |
|
|
VAR_029290 CA6121078 rs8187644 |
68 | N>K | no change in nucleoside and nucleobase transport [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA224056983 rs1013847191 |
68 | N>S | No |
ClinGen TOPMed |
|
|
rs17855425 CA224056977 |
69 | N>H | No |
ClinGen Ensembl |
|
|
rs567330653 CA224056973 |
69 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381422067 rs1457847978 |
70 | W>C | No |
ClinGen gnomAD |
|
|
CA6121075 rs768850070 |
70 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs749558189 CA6121074 |
72 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA381422056 rs1590661663 |
72 | T>P | No |
ClinGen Ensembl |
|
|
CA381422049 rs1590661636 |
73 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 76 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424676141 CA381422004 |
81 | L>P | No |
ClinGen TOPMed |
|
|
rs1590661579 CA381421994 |
83 | T>P | No |
ClinGen Ensembl |
|
|
CA224056967 rs935405811 |
83 | T>S | No |
ClinGen TOPMed |
|
|
CA381421989 rs1279851706 |
84 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA224056963 rs990581409 |
86 | N>S | No |
ClinGen Ensembl |
|
|
CA6121072 rs527456810 |
87 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381421968 rs1311775961 |
87 | S>T | No |
ClinGen gnomAD |
|
|
CA381421966 rs527456810 |
87 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6121071 rs190643110 |
91 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746182289 CA6121070 |
92 | C>R | No |
ClinGen ExAC |
|
|
rs139568207 CA6121044 |
93 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6121042 VAR_029291 rs8187648 |
94 | P>L | no change in nucleoside and nucleobase transport [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA381421913 rs8187648 |
94 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6121043 rs753520320 |
94 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1042219704 CA224056766 |
95 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 95 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6121039 rs142862977 |
96 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6121040 rs142862977 |
96 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194398197 CA381421893 |
98 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1433003361 CA381421892 |
98 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381421895 rs1194398197 |
98 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1265651851 CA381421888 |
99 | I>V | No |
ClinGen gnomAD |
|
|
rs752771041 CA6121037 |
101 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381421877 rs1488891836 |
101 | G>S | No |
ClinGen gnomAD |
|
|
rs1196801881 CA381421868 |
102 | S>N | No |
ClinGen gnomAD |
|
|
rs1316031957 CA381421865 |
102 | S>R | No |
ClinGen gnomAD |
|
|
rs1228002214 CA381421850 |
105 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1228002214 CA381421849 |
105 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776881649 CA6121033 |
106 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs759745016 CA6121034 |
106 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 109 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388216065 CA381421824 |
110 | F>S | No |
ClinGen gnomAD |
|
|
rs1226317915 CA381421815 |
111 | A>G | No |
ClinGen TOPMed |
|
|
rs771251367 CA381421801 |
114 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6121032 rs771251367 |
114 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381421796 rs1169025646 |
115 | A>T | No |
ClinGen gnomAD |
|
|
CA6121031 rs761052897 |
115 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381421786 rs1440711878 |
117 | V>L | No |
ClinGen TOPMed |
|
|
CA381421774 rs1178684056 |
118 | K>N | No |
ClinGen gnomAD |
|
|
rs1454915250 CA381421773 |
119 | V>M | No |
ClinGen gnomAD |
|
|
rs772508692 CA6121029 |
120 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238512598 CA381421759 |
121 | M>V | No |
ClinGen TOPMed |
|
|
rs911302289 CA224056715 |
122 | S>N | No |
ClinGen Ensembl |
|
|
rs1459160058 CA381421740 |
123 | P>L | No |
ClinGen gnomAD |
|
|
CA6121028 rs748640576 |
123 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381421736 rs748937626 |
124 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748937626 CA6121025 |
124 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381421739 rs1196307823 |
124 | G>R | No |
ClinGen gnomAD |
|
|
CA6121024 rs779704978 |
125 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381421726 rs1348207077 |
126 | F>Y | No |
ClinGen gnomAD |
|
|
rs1396030793 CA381421687 |
131 | M>I | No |
ClinGen gnomAD |
|
|
CA381421689 rs1328871553 |
131 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA381421691 rs1328871553 |
131 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs193245057 CA6121022 |
132 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381421681 rs1174718296 |
132 | A>V | No |
ClinGen gnomAD |
|
|
CA381421676 rs1435762421 |
133 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6121020 rs141966481 |
134 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs567393989 CA224056656 |
137 | I>M | No |
ClinGen 1000Genomes |
|
|
CA381421643 rs1441702021 |
138 | N>S | No |
ClinGen gnomAD |
|
|
rs1020700270 CA381421624 |
139 | S>F | No |
ClinGen gnomAD |
|
|
rs1020700270 CA224056356 |
139 | S>Y | No |
ClinGen gnomAD |
|
|
rs1009806865 CA224056355 |
140 | F>L | No |
ClinGen Ensembl |
|
|
CA381421615 rs1565221664 |
141 | S>G | No |
ClinGen Ensembl |
|
|
CA381421613 rs1165745264 |
141 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1326620902 CA381421607 |
142 | A>T | No |
ClinGen TOPMed |
|
|
rs1461952130 CA381421603 |
142 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381421581 rs1476283073 |
146 | G>C | No |
ClinGen gnomAD |
|
|
CA6120998 rs368193083 |
148 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381421562 rs1449508577 |
149 | F>V | No |
ClinGen gnomAD |
|
|
rs1213745770 CA381421556 |
150 | G>R | No |
ClinGen gnomAD |
|
|
CA6120994 rs756395068 |
153 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6120995 rs766353961 |
153 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA381421526 rs1333035910 |
155 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs889051121 CA224056340 |
156 | P>L | No |
ClinGen Ensembl |
|
|
rs1326722488 CA381421516 |
156 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767914203 CA6120992 |
158 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs182128727 CA6120991 |
159 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6120990 rs182128727 |
159 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224056327 rs868511600 |
160 | S>G | No |
ClinGen Ensembl |
|
|
CA6120989 rs764592046 |
160 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120987 rs575865317 |
162 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224056313 rs972868282 |
162 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs140044208 CA381421460 |
165 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6120985 rs759305393 |
166 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381421458 rs1193832496 |
166 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 168 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207256073 CA381421436 |
169 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1217811380 CA381421396 |
175 | A>V | No |
ClinGen gnomAD |
|
|
CA381421394 rs149647183 |
176 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149647183 CA6120981 |
176 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381421392 rs1304486897 |
176 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1239621015 CA381421386 |
177 | A>D | No |
ClinGen gnomAD |
|
|
rs1299962814 CA381421379 |
178 | M>I | No |
ClinGen gnomAD |
|
|
rs772104125 CA6120980 |
178 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1444362518 CA381421374 |
179 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1444362518 CA381421375 |
179 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs901637034 CA224056286 |
180 | L>R | No |
ClinGen TOPMed |
|
|
rs17850744 CA224056282 |
181 | S>A | No |
ClinGen Ensembl |
|
|
CA381421362 rs1412574034 |
181 | S>F | No |
ClinGen gnomAD |
|
|
CA6120977 rs756160160 |
183 | A>T | No |
ClinGen ExAC gnomAD |
|
| VAR_036822 | 184 | S>M | decreased inosine and guanosine transport; no change in uridine and hypoxanthine transport [UniProt] | No | UniProt |
|
rs1321208059 CA381421333 |
184 | S>T | No |
ClinGen gnomAD |
|
|
rs138262350 CA6120954 |
186 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224055868 rs185387968 |
188 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6120950 rs200681710 |
189 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1348860628 CA381421273 |
194 | G>E | No |
ClinGen gnomAD |
|
|
rs777240871 CA224055858 |
194 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 194 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6120948 rs759122453 |
195 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381421262 rs1476246963 |
196 | F>L | No |
ClinGen TOPMed |
|
|
rs753342833 CA6120947 |
197 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA224055837 rs1012148562 |
197 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6120946 COSM1605072 rs201425921 |
198 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1263822500 CA381421226 |
201 | V>A | No |
ClinGen gnomAD |
|
|
rs1056130631 CA224055825 |
202 | G>A | No |
ClinGen TOPMed |
|
|
CA6120942 rs767362748 |
202 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs370123517 CA6120938 |
205 | M>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs776761171 CA6120937 |
206 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs150459418 CA381421187 CA6120934 |
208 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150459418 COSM252819 CA6120935 |
208 | V>M | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6120933 rs758823262 |
209 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590656626 CA381421173 |
210 | Y>S | No |
ClinGen Ensembl |
|
|
CA381421158 rs1323355107 |
212 | S>N | No |
ClinGen gnomAD |
|
|
rs1590656590 CA381421157 |
212 | S>R | No |
ClinGen Ensembl |
|
|
CA381421152 rs1225308002 |
213 | L>Q | No |
ClinGen gnomAD |
|
|
CA381421102 rs1565219906 |
219 | A>P | No |
ClinGen Ensembl |
|
|
CA224055640 rs962219949 |
220 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6120910 rs199873313 |
220 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199873313 CA381421095 |
220 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381421090 rs1336966162 |
221 | Y>C | No |
ClinGen TOPMed |
|
|
CA6120909 rs780663371 |
221 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1034976667 CA224055627 |
222 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA381421085 rs1232029720 |
222 | Y>H | No |
ClinGen TOPMed |
|
|
rs755650929 CA6120908 |
223 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA381421074 rs1348381815 |
224 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 224 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749841170 CA6120907 |
225 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA381421066 rs1212735600 |
225 | N>S | No |
ClinGen TOPMed |
|
|
CA6120906 rs767037797 |
226 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs562354498 CA224055600 |
227 | S>P | No |
ClinGen 1000Genomes TOPMed |
|
|
CA381421044 rs1590655792 |
229 | Q>K | No |
ClinGen Ensembl |
|
|
CA6120904 rs1318048822 |
230 | A>V | No |
ClinGen gnomAD |
|
|
rs1479781302 CA381421029 |
231 | Q>* | No |
ClinGen TOPMed |
|
|
CA6120902 rs751185332 |
232 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs548753844 CA224055595 |
232 | A>T | No |
ClinGen 1000Genomes TOPMed |
|
|
CA6120903 rs751185332 |
232 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs763930126 CA6120901 |
233 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381421016 rs763930126 |
233 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394986354 CA381421012 |
234 | E>K | No |
ClinGen TOPMed |
|
|
rs765017799 CA6120898 |
235 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6120897 rs760823002 |
239 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773224382 CA6120896 |
240 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1471210275 CA381420959 |
242 | L>F | No |
ClinGen gnomAD |
|
|
CA381420957 rs1160287412 |
242 | L>H | No |
ClinGen gnomAD |
|
|
rs141666252 CA6120871 COSM3791822 |
246 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381420909 rs781690791 |
247 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120870 rs746413381 |
247 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA6120868 rs542568717 |
248 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323022476 CA381420898 |
249 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746449549 CA381420894 |
250 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6120867 rs746449549 |
250 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs758105483 COSM3723586 CA6120865 |
252 | S>N | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1461835662 CA381420870 |
253 | P>L | No |
ClinGen gnomAD |
|
|
CA6120864 rs752391904 |
256 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs778620386 CA6120863 |
257 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA381420829 rs1466255824 |
260 | L>P | No |
ClinGen TOPMed |
|
|
rs766272992 CA6120859 |
267 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs377221109 CA6120860 |
267 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs146921129 CA6120858 |
268 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146921129 CA381420775 |
268 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146921129 CA224054947 |
268 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764262274 CA6120856 |
269 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1302981251 CA381420749 |
272 | P>R | No |
ClinGen gnomAD |
|
|
CA6120854 rs763305101 |
272 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6120853 rs775762265 |
273 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA381420737 rs1433268246 |
274 | E>G | No |
ClinGen gnomAD |
|
|
CA6120852 rs765545997 |
276 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs957966130 CA224054938 |
276 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 277 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 279 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555020341 CA381420700 |
280 | K>* | No |
ClinGen Ensembl |
|
|
rs200767442 CA6120850 |
281 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120849 rs200767442 |
281 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120851 rs759908295 |
281 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA381420686 rs1411469889 |
282 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs979542252 CA224054912 |
286 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs979542252 CA224054909 |
286 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1435897151 CA381420647 |
288 | Q>R | No |
ClinGen gnomAD |
|
|
CA6120827 rs761213658 |
290 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381420611 rs1459315825 |
291 | W>* | No |
ClinGen TOPMed |
|
|
rs773658918 CA6120826 |
293 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA381420595 rs773658918 |
293 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs771598411 CA6120825 COSM194378 |
294 | A>V | Variant assessed as Somatic; 4.624e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6120822 rs199671668 |
299 | L>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA6120820 rs780033395 |
300 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120821 rs367971747 |
300 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 302 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374025584 CA6120819 |
304 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs966591580 CA224054763 |
304 | T>P | No |
ClinGen gnomAD |
|
|
rs368450638 CA6120816 |
307 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
CA224054753 rs1019469941 |
308 | F>S | No |
ClinGen Ensembl |
|
|
CA381420464 rs1193995596 |
309 | P>R | No |
ClinGen TOPMed |
|
|
CA381420467 rs1488149996 |
309 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 309 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6120813 COSM930729 rs138695203 |
310 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374487586 CA6120812 |
310 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754032429 CA6120811 |
312 | T>P | No |
ClinGen ExAC |
|
|
rs143174853 CA6120810 |
314 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1357077592 CA381420425 |
314 | M>T | No |
ClinGen gnomAD |
|
|
rs1429512398 CA381420401 |
317 | S>G | No |
ClinGen gnomAD |
|
|
CA6120809 rs371117933 |
317 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381420391 rs1160642505 |
318 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6120808 rs377519708 CA6120807 |
322 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381420344 rs1163340355 |
323 | K>N | No |
ClinGen gnomAD |
|
|
CA6120785 rs763680459 |
326 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA381420300 rs1300604098 |
327 | F>L | No |
ClinGen gnomAD |
|
|
CA6120784 rs762515108 |
328 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA224054684 rs760673877 |
329 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA224054683 rs1022711067 |
331 | I>S | No |
ClinGen Ensembl |
|
|
rs1014025717 CA224054682 |
333 | C>S | No |
ClinGen Ensembl |
|
|
rs769514429 CA6120782 |
336 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381420205 rs1590651253 |
339 | I>S | No |
ClinGen Ensembl |
|
|
rs1473478119 CA381420193 |
340 | M>I | No |
ClinGen TOPMed |
|
|
rs1169474157 CA381420194 |
340 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381420195 rs1169474157 |
340 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1565217520 CA381420198 |
340 | M>V | No |
ClinGen Ensembl |
|
|
rs759250394 CA6120779 |
341 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381420154 rs904441075 |
345 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs904441075 CA224054673 |
345 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs368293303 CA6120777 |
345 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747019764 CA6120776 |
348 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034641854 CA224054661 |
350 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs767929916 CA224054664 |
350 | Y>H | No |
ClinGen TOPMed |
|
|
CA381420089 rs1417498371 |
353 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs372555927 CA6120758 |
355 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212502918 CA381420058 |
355 | D>V | No |
ClinGen gnomAD |
|
|
CA6120757 rs534294245 |
356 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1590646295 CA381420045 |
357 | D>A | No |
ClinGen Ensembl |
|
|
rs771958294 CA6120756 |
357 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237600699 CA381420048 |
357 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748068493 CA6120755 |
358 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs375170903 CA6120753 |
359 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775586357 CA6120754 |
359 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120751 rs565650357 |
361 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1384418442 CA381419997 |
363 | L>P | No |
ClinGen gnomAD |
|
|
CA381419958 rs778187442 |
368 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370769036 CA224053947 |
368 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370769036 CA6120747 |
368 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370769036 COSM1188311 CA6120746 |
368 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA6120748 rs778187442 |
368 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474764831 CA381419948 |
369 | F>L | No |
ClinGen gnomAD |
|
|
rs764893794 CA6120745 |
371 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6120743 rs377580229 |
372 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6120742 rs377580229 |
372 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6120741 rs760359804 |
373 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs149121404 CA6120740 |
376 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767265439 CA6120739 |
378 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 378 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233150134 CA381419871 |
379 | H>Y | No |
ClinGen gnomAD |
|
|
rs774223827 CA6120737 |
380 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224053920 rs769891492 |
383 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120736 rs769891492 |
383 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776926721 CA6120735 |
385 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA381419819 rs771116586 |
385 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120733 rs771116586 |
385 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776926721 CA6120734 |
385 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs905497061 CA224053908 |
388 | I>V | No |
ClinGen TOPMed |
|
|
CA381419788 rs1389391403 |
389 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 390 | F>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381419769 rs1180927593 |
391 | P>S | No |
ClinGen gnomAD |
|
|
rs1024407999 CA224053905 |
392 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381419740 rs1164759240 |
394 | A>V | No |
ClinGen gnomAD |
|
|
CA6120732 rs747250921 |
395 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs772546854 CA6120730 |
397 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1465874808 CA381419710 |
398 | T>N | No |
ClinGen gnomAD |
|
|
rs1248037242 CA381419694 |
400 | M>V | No |
ClinGen gnomAD |
|
|
rs748690554 CA6120729 |
402 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1565215560 CA381419656 |
404 | A>D | No |
ClinGen Ensembl |
|
|
CA381419661 rs1470849658 |
404 | A>T | No |
ClinGen Ensembl |
|
|
CA381419653 rs1339086340 |
405 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6120725 rs779608102 |
408 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755759697 CA381419622 |
409 | Y>D | No |
ClinGen ExAC |
|
|
CA6120724 rs755759697 |
409 | Y>H | No |
ClinGen ExAC |
|
|
CA381419612 rs1366106330 |
410 | L>Q | No |
ClinGen gnomAD |
|
|
rs903423083 CA224053872 |
411 | V>A | No |
ClinGen Ensembl |
|
|
rs372698108 CA381419605 |
412 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6120722 rs372698108 |
412 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6120721 rs761554887 |
413 | L>V | No |
ClinGen ExAC |
|
|
rs751502040 CA6120720 |
414 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751502040 CA381419592 |
414 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA224053868 rs891565741 |
415 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1450926367 CA381419580 |
416 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6120718 rs371219484 |
418 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760858699 CA6120715 |
420 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs760858699 CA6120716 |
420 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs145919416 CA6120685 |
421 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1385008421 CA381419532 |
422 | V>A | No |
ClinGen TOPMed |
|
|
CA381419520 rs1417509358 |
424 | P>L | No |
ClinGen gnomAD |
|
|
rs752612168 CA6120684 |
425 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765157382 CA381419512 |
426 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs765157382 CA6120682 |
426 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756165410 CA6120681 |
427 | R>M | No |
ClinGen ExAC |
|
|
CA381419486 rs1590643485 |
429 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 430 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200880227 CA6120679 |
431 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774663200 CA6120677 |
432 | A>T | Variant assessed as Somatic; 4.698e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 434 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754664833 | 437 | F>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381419395 rs1260659494 |
444 | C>Y | No |
ClinGen gnomAD |
|
|
rs775873193 CA6120673 |
446 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA224053414 rs948522289 |
451 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6120671 rs746371660 |
452 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs770389296 CA6120672 |
452 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120670 rs140572979 |
454 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746690434 CA6120668 |
455 | L>P | No |
ClinGen ExAC gnomAD |
No associated diseases with Q14542
No regional properties for Q14542
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q14542 | |||
Functions
6 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 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. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| neurotransmitter transmembrane transporter activity | Enables the directed movement of a neurotransmitter into, out of or within a cell, or between cells. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| nucleoside transmembrane transporter activity | Enables the transfer of a nucleoside, a nucleobase linked to either beta-D-ribofuranose (ribonucleoside) or 2-deoxy-beta-D-ribofuranose, (a deoxyribonucleotide) from one side of a membrane to the other. |
| purine nucleoside transmembrane transporter activity | Enables the transfer of a purine nucleoside, a purine base covalently bonded to a ribose or deoxyribose sugar, from one side of a membrane to the other. |
| uridine transmembrane transporter activity | Enables the transfer of uridine, uracil riboside, from one side of a membrane to the other. |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| adenine transport | The directed movement of adenine, 6-aminopurine, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| adenosine transport | The directed movement of adenosine, adenine riboside, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| cellular response to insulin stimulus | 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 an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| guanine transport | The directed movement of guanine, 2-amino-6-hydroxypurine, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| hypoxanthine transport | The directed movement of hypoxanthine, 6-hydroxypurine, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| lactation | The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. |
| neurotransmitter reuptake | The directed movement of neurotransmitter molecules from the extrasynaptic space into the presynaptic cytosol. |
| neurotransmitter transport | The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| neurotransmitter uptake | The directed movement of neurotransmitters into neurons or glial cells. This process leads to inactivation and recycling of neurotransmitters. |
| nucleoside transmembrane transport | The directed movement of nucleoside across a membrane. |
| nucleoside transport | The directed movement of a nucleoside, a nucleobase linked to either beta-D-ribofuranose (ribonucleoside) or 2-deoxy-beta-D-ribofuranose, (a deoxyribonucleotide), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| purine nucleoside transmembrane transport | The process in which a purine nucleoside is transported across a membrane. A purine nucleoside is a purine base covalently bonded to a ribose or deoxyribose sugar. |
| pyrimidine-containing compound transmembrane transport | The process in which a pyrimidine-containing compound is transported across a membrane. A pyrimidine-containing compound is any compound that contains pyrimidine or a formal derivative thereof. |
| thymine transport | The directed movement of thymine, 5-methyluracil, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
| uridine transport | The directed movement of uridine, uracil riboside, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| xenobiotic transmembrane transport | The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARGDAPRDS | YHLVGISFFI | LGLGTLLPWN | FFITAIPYFQ | ARLAGAGNST | ARILSTNHTG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PEDAFNFNNW | VTLLSQLPLL | LFTLLNSFLY | QCVPETVRIL | GSLLAILLLF | ALTAALVKVD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MSPGPFFSIT | MASVCFINSF | SAVLQGSLFG | QLGTMPSTYS | TLFLSGQGLA | GIFAALAMLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SMASGVDAET | SALGYFITPC | VGILMSIVCY | LSLPHLKFAR | YYLANKSSQA | QAQELETKAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLQSDENGIP | SSPQKVALTL | DLDLEKEPES | EPDEPQKPGK | PSVFTVFQKI | WLTALCLVLV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FTVTLSVFPA | ITAMVTSSTS | PGKWSQFFNP | ICCFLLFNIM | DWLGRSLTSY | FLWPDEDSRL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LPLLVCLRFL | FVPLFMLCHV | PQRSRLPILF | PQDAYFITFM | LLFAVSNGYL | VSLTMCLAPR |
| 430 | 440 | 450 | |||
| QVLPHEREVA | GALMTFFLAL | GLSCGASLSF | LFKALL |