Q9H0C2
PR
Gene name |
SLC25A31 |
Protein name |
ADP/ATP translocase 4 |
Names |
ADP,ATP carrier protein 4, Adenine nucleotide translocator 4, ANT 4, Solute carrier family 25 member 31, Sperm flagellar energy carrier protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83447 |
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 Q9H0C2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H0C2-F1 | Predicted | AlphaFoldDB |
272 variants for Q9H0C2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs751939242 CA3075441 |
2 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345686487 CA358148685 |
2 | H>R | No |
ClinGen gnomAD |
|
|
CA358148706 rs1224952600 |
3 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3075442 rs755877465 |
3 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358148724 rs1200435378 |
4 | E>G | No |
ClinGen gnomAD |
|
|
rs1348964208 CA358148715 |
4 | E>Q | No |
ClinGen gnomAD |
|
|
CA3075445 rs145350951 |
5 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3075444 rs748849394 |
5 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778277206 CA3075446 |
6 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1290915011 CA358148757 |
7 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3075448 rs35968387 |
9 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358148824 rs1477608390 |
10 | A>V | No |
ClinGen TOPMed |
|
|
CA358148859 rs373577281 |
12 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373577281 CA3075449 |
12 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480124960 CA358148872 |
13 | R>Q | No |
ClinGen gnomAD |
|
|
rs935825488 CA105654934 |
13 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs140983629 CA3075452 |
15 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746829831 CA3075450 |
15 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105654941 rs200400725 |
15 | F>V | No |
ClinGen Ensembl |
|
|
CA3075451 rs746829831 |
15 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328002457 CA358148928 |
17 | A>P | No |
ClinGen gnomAD |
|
|
rs1328002457 CA358148925 |
17 | A>T | No |
ClinGen gnomAD |
|
|
rs1344901575 CA358148933 |
17 | A>V | No |
ClinGen TOPMed |
|
|
CA105655002 rs375462787 |
24 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA105655014 rs377459295 |
25 | L>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs765416040 CA3075456 |
25 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs377459295 CA358149075 |
25 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA358149104 rs1483357736 |
27 | G>S | No |
ClinGen gnomAD |
|
|
rs1578651347 CA358149155 |
29 | V>G | No |
ClinGen Ensembl |
|
|
CA3075457 rs773420489 |
30 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs887983958 CA105655069 |
32 | A>T | No |
ClinGen TOPMed |
|
|
rs1213308395 CA358149214 |
33 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 34 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358149245 rs1413633124 |
35 | K>E | No |
ClinGen TOPMed |
|
|
rs766969453 CA3075459 |
35 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766969453 CA358149250 |
35 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1240223 rs752061699 CA3075460 |
37 | A>V | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3075462 rs150228046 |
38 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA105655120 COSM172248 rs374027476 |
39 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA358149359 rs1484113263 |
40 | P>L | No |
ClinGen TOPMed |
|
|
CA358149381 rs1474424869 |
41 | I>M | No |
ClinGen gnomAD |
|
|
CA3075463 rs753538387 |
41 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756860017 CA3075464 |
42 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745363139 CA358149400 |
43 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745363139 CA358149406 |
43 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745363139 CA3075466 |
43 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3075465 rs368029351 |
43 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776279756 CA105655156 |
45 | K>N | No |
ClinGen TOPMed |
|
|
rs1364495765 CA358149459 |
45 | K>T | No |
ClinGen gnomAD |
|
|
rs746883007 CA3075469 |
48 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3075470 rs768511601 |
49 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 49 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs894910174 CA105655172 |
50 | V>L | No |
ClinGen TOPMed |
|
|
CA358149637 rs1297455872 |
52 | A>S | No |
ClinGen gnomAD |
|
|
rs1360662589 CA358149639 |
52 | A>V | No |
ClinGen gnomAD |
|
|
rs773473438 CA3075474 |
53 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3075473 rs769874861 |
53 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA358149653 rs773473438 |
53 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs371452335 CA3075475 |
54 | S>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA358149681 rs1374884750 |
55 | K>* | No |
ClinGen TOPMed |
|
|
rs1263995637 CA358149815 |
58 | S>I | No |
ClinGen gnomAD |
|
|
CA358149813 rs1263995637 |
58 | S>N | No |
ClinGen gnomAD |
|
|
rs1560628611 CA358149883 |
60 | E>D | No |
ClinGen Ensembl |
|
|
CA105655208 COSM1539437 rs1013234281 |
60 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA358149860 rs1013234281 |
60 | E>Q | No |
ClinGen TOPMed |
|
|
CA358149914 rs1578651492 |
61 | A>V | No |
ClinGen Ensembl |
|
|
CA358149943 rs372369477 |
62 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372369477 CA3075477 |
62 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368916292 CA105655211 |
62 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1446229429 CA358150001 |
63 | Y>* | No |
ClinGen gnomAD |
|
|
CA358149964 rs1473573718 |
63 | Y>C | No |
ClinGen TOPMed |
|
|
CA358150011 rs1181460805 |
64 | K>E | No |
ClinGen gnomAD |
|
|
rs1384361161 CA358150015 |
64 | K>R | No |
ClinGen gnomAD |
|
|
CA3075478 rs759898796 |
65 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3075479 rs138879691 |
66 | M>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs138879691 CA3075480 |
66 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3075481 rs756985800 |
69 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3075482 rs764895443 |
70 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750038851 CA3075483 |
71 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201791711 CA3075484 |
72 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779482422 CA3075485 |
73 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs555840060 CA3075486 |
74 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754865784 CA3075487 |
75 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA358150324 rs1240091152 |
77 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 79 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765993308 CA3075519 |
80 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs751173570 CA3075520 |
81 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA358153176 rs1299000709 |
83 | W>* | No |
ClinGen TOPMed |
|
|
rs1221696274 CA358153172 |
83 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3075521 rs369621147 |
84 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1006044667 CA105665712 |
84 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1006044667 CA358153207 |
84 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA358153234 rs1229517167 |
86 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1438219002 CA358153280 |
88 | A>T | No |
ClinGen TOPMed |
|
|
CA358153406 rs1270543795 |
92 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756103199 CA3075524 |
92 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753666991 COSM3696430 CA3075526 |
93 | Y>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA358153489 rs1429696360 |
95 | P>L | No |
ClinGen gnomAD |
|
|
CA3075528 rs779037500 |
98 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA358153620 rs1429455801 |
100 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453573898 CA358153714 |
105 | D>H | No |
ClinGen TOPMed |
|
|
rs1393088632 CA358153726 |
105 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 106 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358153818 rs1195714272 |
109 | Q>* | No |
ClinGen TOPMed |
|
|
CA3075530 rs758423485 |
110 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747581918 CA3075532 |
112 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3075531 rs780171708 |
112 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA358153879 rs1383902909 |
112 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 114 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs567800655 CA3075534 |
116 | N>K | No |
ClinGen 1000Genomes ExAC |
|
|
rs770102160 CA3075536 |
118 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1356902174 CA358154128 |
119 | K>T | No |
ClinGen gnomAD |
|
|
CA3075556 TCGA novel rs781685144 |
121 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
| TCGA novel | 121 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564145649 CA3075558 |
122 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3075559 rs564145649 |
122 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745569616 CA3075560 |
124 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1357232362 CA358146562 |
125 | F>L | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358146578 rs1446963788 |
126 | L>S | No |
ClinGen gnomAD |
|
|
rs1444788279 CA358146588 |
127 | A>T | No |
ClinGen TOPMed |
|
|
rs771721752 CA3075561 |
128 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs560548776 CA105635999 |
129 | L>P | No |
ClinGen Ensembl |
|
|
rs1226188652 CA358146618 |
130 | A>P | No |
ClinGen gnomAD |
|
|
rs1287209078 CA358146643 |
132 | G>D | No |
ClinGen gnomAD |
|
|
CA3075563 rs148986303 |
132 | G>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3075564 rs531656423 |
134 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3075565 rs776726968 |
134 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3075566 rs145863152 |
135 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 136 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578670446 CA358146701 |
138 | T>A | No |
ClinGen Ensembl |
|
|
rs765011322 CA3075567 |
140 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA358146744 rs116063431 |
141 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3075568 rs116063431 |
141 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA105636012 rs749129597 |
143 | V>I | No |
ClinGen TOPMed |
|
|
CA3075571 rs201951318 |
144 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM226114 rs755053928 CA3075572 |
145 | P>S | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3075573 rs781190567 |
149 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358146862 rs1464153404 |
150 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs868692313 CA105636019 COSM203668 |
150 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3075574 rs138482370 |
152 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267600020 CA105636023 COSM1265788 |
152 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3075575 rs756635247 |
153 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA358146916 rs1186144689 |
154 | G>S | No |
ClinGen gnomAD |
|
|
rs749689100 CA3075578 |
155 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs778035760 CA3075577 |
155 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3075579 rs771163307 |
156 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105636032 rs199683352 |
157 | I>T | No |
ClinGen TOPMed |
|
|
rs752739946 CA3075592 |
160 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 160 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867936409 CA105636854 |
163 | E>K | No |
ClinGen Ensembl |
|
|
COSM1051087 CA3075594 rs778377911 |
164 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3075595 rs201269041 |
164 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA105636858 rs989533831 |
167 | K>* | No |
ClinGen Ensembl |
|
|
rs913731332 CA105636859 |
168 | G>D | No |
ClinGen Ensembl |
|
|
rs1360508116 CA358147766 |
169 | L>F | No |
ClinGen gnomAD |
|
|
CA3075596 rs114139713 |
170 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs116117872 CA3075597 |
171 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358147827 rs1451063496 |
172 | C>R | No |
ClinGen gnomAD |
|
|
CA358147836 rs1193854572 |
172 | C>Y | No |
ClinGen gnomAD |
|
|
CA358147894 rs1249740749 |
174 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs531149963 CA3075598 |
175 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187762365 CA358147982 |
177 | A>E | No |
ClinGen gnomAD |
|
|
CA105636860 rs966982990 |
178 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 178 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982031092 CA105636862 |
180 | D>H | No |
ClinGen Ensembl |
|
|
rs768392740 CA3075599 |
182 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA105636867 rs946308496 |
183 | A>S | No |
ClinGen TOPMed |
|
|
rs1318654460 CA358148090 |
184 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780900455 CA3075600 |
187 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1332857326 CA358149402 |
192 | S>* | No |
ClinGen gnomAD |
|
|
CA358149419 rs1319559741 |
193 | V>I | No |
ClinGen gnomAD |
|
|
CA358149456 rs1437254884 |
194 | Q>R | No |
ClinGen gnomAD |
|
|
rs769144214 CA3075602 |
195 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs769144214 CA358149498 |
195 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA358149549 rs1274226449 |
197 | I>F | No |
ClinGen gnomAD |
|
|
rs773204233 CA3075603 |
197 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA105636872 rs1043726027 |
199 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs762741090 CA3075605 |
200 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762741090 CA3075604 |
200 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3075606 COSM277310 rs774124664 |
200 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3075608 rs767701087 |
203 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA3075610 rs760816639 |
206 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA358149882 rs1425283838 |
207 | Y>C | No |
ClinGen gnomAD |
|
|
CA358150037 rs764027653 |
211 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745683229 CA3075627 |
212 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171262009 CA358150451 |
215 | P>S | No |
ClinGen gnomAD |
|
|
rs867010410 CA105637302 |
217 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 217 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373463289 CA3075629 |
220 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 220 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3075630 rs775797272 COSM1226122 |
221 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA105637306 rs1025586269 |
222 | F>L | No |
ClinGen Ensembl |
|
|
rs1329287994 CA358150637 |
223 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs764305704 CA3075632 |
224 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1345718094 CA358150677 |
225 | S>F | No |
ClinGen TOPMed |
|
|
rs762459993 CA3075635 |
228 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1339775815 CA358150786 |
229 | A>S | No |
ClinGen gnomAD |
|
|
rs919402157 CA105637328 |
230 | Q>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 231 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3075636 rs750922505 |
232 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3075637 rs758837076 |
237 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs766593441 CA3075638 |
239 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3075639 rs766593441 |
239 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3075640 rs755716880 |
240 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs557204804 CA3075641 |
241 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3075643 rs150542608 |
245 | T>A | No |
ClinGen ESP ExAC TOPMed |
|
|
rs372171427 CA3075644 |
245 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 246 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3075646 rs778830237 |
249 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200720529 CA3075647 |
249 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 249 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358151363 rs1303904172 |
250 | M>V | No |
ClinGen gnomAD |
|
|
CA3075668 rs746803361 |
255 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3075670 rs533689186 |
259 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139552475 CA3075672 |
259 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3075669 rs533689186 |
259 | R>W | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3075673 rs773420731 |
263 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763593670 CA358153035 |
264 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763593670 CA3075674 |
264 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763593670 CA3075675 |
264 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358153013 rs1291600106 |
264 | T>S | No |
ClinGen TOPMed |
|
|
rs1253139688 CA358153128 |
267 | C>S | No |
ClinGen gnomAD |
|
|
CA3075676 rs774868733 |
270 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs988738469 CA105639151 |
272 | Y>H | No |
ClinGen TOPMed |
|
|
rs914458330 CA105639159 |
274 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs914458330 CA358153411 |
274 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3075678 rs767853619 |
275 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA105639160 COSM3357773 rs868634682 |
275 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs753549901 CA3075679 |
278 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs116273802 CA3075680 |
278 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs865943895 CA105639164 |
279 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs764772185 CA3075681 |
280 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA358153677 rs144417673 |
281 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144417673 CA3075682 |
281 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3075683 rs147418403 |
281 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3075684 COSM3600175 rs779889234 |
282 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs367726377 CA3075685 |
282 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367726377 CA358153751 |
282 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 282 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 284 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3075687 rs368828746 |
284 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358153820 rs555215338 |
285 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3075688 rs555215338 |
285 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 286 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358153872 rs1330575902 |
287 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3075689 rs139762125 |
287 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1436599171 CA358153886 |
287 | N>S | No |
ClinGen Ensembl |
|
|
CA3075690 rs199786704 |
290 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239574539 CA358153993 |
291 | G>D | No |
ClinGen gnomAD |
|
|
CA105639184 rs200711327 |
291 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA358154062 rs1490930808 |
293 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA105639204 rs1006609349 |
294 | G>D | No |
ClinGen Ensembl |
|
|
CA105639212 rs372529015 |
298 | L>S | No |
ClinGen ESP TOPMed |
|
|
rs534539390 CA3075693 |
299 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs552762938 CA3075694 |
300 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA105639220 rs1036993906 |
301 | Y>C | No |
ClinGen TOPMed |
|
|
rs376610442 CA3075697 |
302 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376610442 CA3075696 |
302 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1051089 rs1215791198 CA358154298 |
302 | D>Y | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| VAR_074177 | 303 | K>E | No | UniProt | |
|
rs761506185 CA3075698 |
303 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414953526 CA358154374 |
304 | I>N | No |
ClinGen gnomAD |
|
|
CA3075700 rs577470030 |
306 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3075701 rs577470030 |
306 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751513429 CA3075702 |
307 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3075704 rs754937230 |
309 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145179975 CA3075703 |
309 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358154489 rs1560643605 |
310 | I>T | No |
ClinGen Ensembl |
|
|
rs767460067 CA3075706 |
313 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 314 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9H0C2
3 regional properties for Q9H0C2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Mitochondrial substrate/solute carrier | 18 - 113 | IPR018108-1 |
| repeat | Mitochondrial substrate/solute carrier | 122 - 216 | IPR018108-2 |
| repeat | Mitochondrial substrate/solute carrier | 219 - 309 | IPR018108-3 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial permeability transition pore complex | A protein complex that connects the inner and outer membranes of animal mitochondria and acts as a pore that can open transiently to allow free diffusion of solutes between the mitochondrial matrix and the cytosol. The pore complex is formed of the voltage-dependent anion channel (VDAC), the adenine nucleotide translocase (ANT) and cyclophilin-D (CyP-D). |
| 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. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP:ADP antiporter activity | Catalysis of the reaction: ATP(out) + ADP(in) = ATP(in) + ADP(out). |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| male meiosis I | A cell cycle process comprising the steps by which a cell progresses through male meiosis I, the first meiotic division in the male germline. |
| mitochondrial ADP transmembrane transport | The process in which ADP is transported across a mitochondrial membrane, into or out of the mitochondrion. |
| mitochondrial ATP transmembrane transport | The process in which ATP is transported across a mitochondrial membrane, into or out of the mitochondrion. |
| negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway. |
| regulation of mitochondrial membrane permeability | Any process that modulates the frequency, rate or extent of the passage or uptake of molecules by the mitochondrial membrane. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHREPAKKKA | EKRLFDASSF | GKDLLAGGVA | AAVSKTAVAP | IERVKLLLQV | QASSKQISPE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARYKGMVDCL | VRIPREQGFF | SFWRGNLANV | IRYFPTQALN | FAFKDKYKQL | FMSGVNKEKQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FWRWFLANLA | SGGAAGATSL | CVVYPLDFAR | TRLGVDIGKG | PEERQFKGLG | DCIMKIAKSD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GIAGLYQGFG | VSVQGIIVYR | ASYFGAYDTV | KGLLPKPKKT | PFLVSFFIAQ | VVTTCSGILS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YPFDTVRRRM | MMQSGEAKRQ | YKGTLDCFVK | IYQHEGISSF | FRGAFSNVLR | GTGGALVLVL |
| 310 | |||||
| YDKIKEFFHI | DIGGR |