P01589
PR
Gene name |
IL2RA |
Protein name |
Interleukin-2 receptor subunit alpha |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3559 |
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
10 structures for P01589
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1Z92 | X-ray | 280 A | B | 22-238 | PDB |
| 2B5I | X-ray | 230 A | D | 22-238 | PDB |
| 2ERJ | X-ray | 300 A | A/E | 22-233 | PDB |
| 3IU3 | X-ray | 290 A | I/J/K | 22-238 | PDB |
| 3NFP | X-ray | 286 A | I/K | 22-238 | PDB |
| 6VWU | X-ray | 340 A | A | 22-186 | PDB |
| 6YIO | X-ray | 183 A | B | 22-213 | PDB |
| 7F9W | EM | 320 A | A | 26-186 | PDB |
| 7ZMZ | X-ray | 320 A | D | 21-238 | PDB |
| AF-P01589-F1 | Predicted | AlphaFoldDB |
252 variants for P01589
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA375940561 RCV001228228 rs1406895472 |
2 | D>Y | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000641698 rs55868253 RCV001702702 CA5397550 |
26 | D>H | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001318657 CA5397549 rs55868253 |
26 | D>N | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001309313 CA5397547 rs148505161 |
29 | P>L | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs773957702 RCV000988324 CA5397544 |
34 | A>T | Variant assessed as Somatic; 0.0 impact. Immunodeficiency due to CD25 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA5397542 rs146345652 RCV001337173 RCV002546808 |
39 | M>I | Immunodeficiency due to CD25 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_074641 RCV000185642 CA203914 rs796051888 |
41 | Y>S | Immunodeficiency due to CD25 deficiency IMD41 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001321225 CA5397541 RCV002476506 rs142016545 |
42 | K>R | Immunodeficiency due to CD25 deficiency Type 1 diabetes mellitus 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000380637 COSM919170 CA10635576 rs886047083 |
56 | R>H | Immunodeficiency due to CD25 deficiency Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000807888 CA375930391 rs1589295770 |
61 | G>V | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA202296622 RCV000641700 rs372359952 |
65 | M>V | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001314164 rs756444069 CA5397528 COSM179375 |
74 | S>L | Immunodeficiency due to CD25 deficiency large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001047436 rs1839474866 |
77 | D>N | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774803573 CA375929659 RCV000814187 |
82 | C>* | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001338932 rs1839474377 |
84 | S>T | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794961 rs139340259 CA5397505 |
88 | R>Q | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001083317 RCV000498899 CA5397502 rs72650666 |
91 | T>M | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs771893707 RCV001040555 CA5397499 |
94 | V>M | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002533598 RCV000700724 CA5397496 rs201105599 |
99 | E>D | Immunodeficiency due to CD25 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10602389 RCV000185639 RCV001818449 rs886041037 |
101 | Q>* | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1839441418 RCV001106478 |
110 | Q>E | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002538116 rs56054476 CA5397492 RCV000812221 |
111 | S>N | Immunodeficiency due to CD25 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5397491 rs781478336 RCV000697017 |
113 | M>V | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA202295605 RCV001218513 rs74162095 |
116 | V>A | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs751445826 RCV000795201 RCV002536997 CA5397446 |
139 | I>M | Variant assessed as Somatic; 0.0003234 impact. Immunodeficiency due to CD25 deficiency Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs886047082 RCV001302242 |
143 | V>L | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000353808 rs886047082 CA10635569 |
143 | V>M | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs147975326 CA5397444 RCV000526682 |
147 | M>L | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA375926578 RCV001346414 CA5397443 rs765403608 |
151 | Q>H | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs996425446 CA202294046 RCV001302852 |
152 | C>R | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000320029 COSM1561285 CA5397440 RCV000289474 rs201188114 |
153 | V>I | Immunodeficiency due to CD25 deficiency large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs146966522 CA5397433 RCV000795536 |
162 | G>S | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1380793631 CA375926501 RCV001223663 |
164 | A>V | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA203911 RCV000185641 VAR_074642 rs796051887 |
166 | S>N | Immunodeficiency due to CD25 deficiency IMD41; the receptor does not localize to the plasma membrane [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002491696 RCV001222052 CA5397428 rs147791171 COSM1239126 |
167 | V>I | Variant assessed as Somatic; 0.0 impact. Immunodeficiency due to CD25 deficiency oesophagus Type 1 diabetes mellitus 10 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000697789 CA5397426 rs752423140 |
173 | G>R | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375926397 RCV001247884 rs1374000273 |
179 | Q>H | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000810659 rs746647595 CA5397424 |
183 | I>V | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375925548 rs1438968487 RCV001042827 |
206 | R>C | Immunodeficiency due to CD25 deficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000178765 CA245922 RCV001852223 rs774136663 |
206 | R>H | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5397385 RCV001319357 rs367926771 |
208 | E>D | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1839342849 RCV001103425 |
226 | M>I | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5397350 rs767085799 RCV001050692 |
228 | A>V | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs139266750 RCV001103424 |
231 | E>D | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000641699 CA5397349 rs150060415 |
231 | E>Q | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000185640 rs886041038 |
232 | T>missing | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375756091 RCV000698549 CA5397345 |
234 | I>V | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA375924371 RCV001241523 rs1371314193 |
244 | A>V | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs143550766 RCV002244747 RCV000346157 CA5397312 COSM919169 |
253 | V>I | Immunodeficiency due to CD25 deficiency endometrium Myelodysplasia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1839308337 RCV001345547 |
256 | L>missing | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753797918 CA5397308 RCV000811521 |
258 | G>E | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001069141 RCV002554565 rs536344946 CA5397305 |
263 | R>Q | Immunodeficiency due to CD25 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs140088691 RCV000994347 RCV000284134 CA5397306 |
263 | R>W | Immunodeficiency due to CD25 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469971152 CA375940552 |
2 | D>E | No |
ClinGen gnomAD |
|
|
CA202317482 rs906899147 |
4 | Y>* | No |
ClinGen TOPMed |
|
|
CA375940533 rs1564556393 |
4 | Y>H | No |
ClinGen Ensembl |
|
|
rs1299907703 CA375940497 |
7 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 11 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375940454 rs1170621521 |
11 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs750706858 CA5397574 |
11 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA202317477 rs1012971945 |
12 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1012971945 CA202317475 |
12 | T>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 13 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5397573 rs781222262 |
14 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781222262 CA375940422 |
14 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5397572 rs74162092 |
15 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751620727 CA5397571 |
16 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5397570 rs764712311 |
19 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs267602536 CA202317456 |
22 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5397553 rs751819134 |
23 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1362253385 CA591457317 |
24 | C>* | No |
ClinGen gnomAD |
|
|
CA5397552 rs201995749 |
25 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1054397968 CA202296684 |
28 | P>L | No |
ClinGen gnomAD |
|
|
rs372125213 CA5397546 |
31 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367374934 CA375931176 |
33 | H>D | No |
ClinGen gnomAD |
|
|
CA5397545 rs761518137 |
33 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA5397543 rs763638163 |
35 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA375931111 rs1262689195 |
36 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1191996028 CA375931058 |
38 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs979148208 CA202296659 |
46 | M>T | No |
ClinGen TOPMed |
|
|
rs769549397 CA5397540 |
47 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA5397539 rs745686694 |
48 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA202296649 rs907714536 |
51 | C>* | No |
ClinGen TOPMed |
|
|
CA202296655 rs755535751 |
51 | C>R | No |
ClinGen Ensembl |
|
|
rs983252219 CA375930610 |
52 | K>N | No |
ClinGen Ensembl |
|
|
CA375930497 rs1175936796 |
57 | R>S | No |
ClinGen TOPMed |
|
|
rs1489675522 CA375930428 |
60 | S>I | No |
ClinGen Ensembl |
|
|
rs201617475 CA5397536 |
61 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1397929277 CA375930328 |
64 | Y>N | No |
ClinGen gnomAD |
|
|
TCGA novel rs1589295742 CA375930275 |
65 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
CA375930284 rs1303759510 |
65 | M>T | No |
ClinGen gnomAD |
|
|
CA375930216 rs1163208597 |
67 | C>Y | No |
ClinGen gnomAD |
|
|
CA375930148 rs1589295726 |
69 | G>E | No |
ClinGen Ensembl |
|
|
rs779481535 CA5397532 |
69 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1172654832 CA375930116 |
70 | N>I | No |
ClinGen gnomAD |
|
|
CA375930123 rs1172654832 |
70 | N>T | No |
ClinGen gnomAD |
|
|
CA5397530 rs766766658 |
71 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5397529 rs766766658 |
71 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375930061 rs1462904435 |
72 | S>R | No |
ClinGen gnomAD |
|
|
CA375930069 rs1168773094 |
72 | S>T | No |
ClinGen gnomAD |
|
|
CA202296605 rs913717515 |
73 | H>L | No |
ClinGen TOPMed |
|
|
CA375930045 rs1375177673 |
73 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191171742 CA375929787 |
78 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5397526 rs763695218 |
79 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA375929684 rs1206012747 |
81 | Q>H | No |
ClinGen gnomAD |
|
|
CA5397525 rs762527969 |
81 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1589295649 CA375929602 |
85 | S>F | No |
ClinGen Ensembl |
|
|
rs1216411295 CA375929612 |
85 | S>T | No |
ClinGen gnomAD |
|
|
CA375928660 rs1232381897 |
87 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5397504 rs139340259 |
88 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA202295672 rs919412627 |
88 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5397503 rs753853235 |
91 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA375928481 rs761978980 |
94 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5397498 rs761978980 |
94 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA375928434 rs1302422521 |
96 | P>L | No |
ClinGen gnomAD |
|
|
rs1464908758 CA375928391 |
98 | P>H | No |
ClinGen gnomAD |
|
|
CA375928281 rs1160524305 |
102 | K>Q | No |
ClinGen gnomAD |
|
|
rs749326313 CA5397495 |
102 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5397494 rs780542426 |
103 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406426330 CA375928213 |
104 | R>K | No |
ClinGen TOPMed |
|
|
CA375928108 rs1176277980 |
109 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA375928089 rs1445854585 |
110 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1328875036 CA375928058 |
112 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1482173927 CA375928034 |
113 | M>I | No |
ClinGen gnomAD |
|
|
rs76029930 CA202295607 |
113 | M>R | No |
ClinGen Ensembl |
|
|
CA375928025 rs1262248139 |
114 | Q>* | No |
ClinGen gnomAD |
|
|
rs1392523029 CA375927988 |
117 | D>N | No |
ClinGen gnomAD |
|
|
CA375927969 rs1228843999 |
118 | Q>E | No |
ClinGen TOPMed |
|
|
rs138645280 CA202295595 |
119 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA375927954 rs1341125745 |
119 | A>T | No |
ClinGen gnomAD |
|
|
CA5397488 rs138645280 |
119 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1364586699 CA375927929 |
120 | S>R | No |
ClinGen gnomAD |
|
|
CA375927925 rs1299218705 |
121 | L>V | No |
ClinGen gnomAD |
|
|
rs753336611 CA5397486 |
122 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA375926988 rs1234367529 |
126 | R>K | No |
ClinGen gnomAD |
|
|
CA375926957 CA375926959 rs1404513355 |
127 | E>D | No |
ClinGen TOPMed |
|
|
CA5397455 rs747351412 |
128 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5397453 rs772563186 |
129 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA375926915 rs1401837237 |
130 | P>L | No |
ClinGen gnomAD |
|
|
CA375926923 rs1337506970 |
130 | P>T | No |
ClinGen TOPMed |
|
|
rs755713136 CA5397450 |
131 | W>C | No |
ClinGen ExAC |
|
|
CA5397452 rs779802160 |
131 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375926908 rs779802160 CA5397451 |
131 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050040943 CA202294149 |
133 | N>D | No |
ClinGen Ensembl |
|
|
CA375926839 rs1309343696 |
133 | N>I | No |
ClinGen TOPMed |
|
|
CA5397449 rs745306282 |
135 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA375926808 rs1464759420 |
135 | A>T | No |
ClinGen gnomAD |
|
|
CA5397448 rs781005101 |
137 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA375926768 rs1337383760 |
137 | E>K | No |
ClinGen TOPMed |
|
|
rs1196655587 CA375926689 |
141 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1196655587 CA375926687 |
141 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA202294103 rs267602533 |
141 | H>Y | No |
ClinGen Ensembl |
|
|
rs763312995 CA202294087 |
143 | V>A | No |
ClinGen Ensembl |
|
|
CA375926654 rs1238839166 |
144 | V>M | No |
ClinGen gnomAD |
|
|
CA202294083 rs141655051 |
146 | Q>K | No |
ClinGen ESP |
|
|
TCGA novel rs575199237 CA202294064 |
147 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA375926615 rs147975326 |
147 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375926605 rs1265156067 |
148 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375926563 rs1378537514 |
154 | Q>* | No |
ClinGen gnomAD |
|
|
CA202294023 rs1004799640 |
154 | Q>R | No |
ClinGen TOPMed |
|
|
CA202294018 rs887140109 |
155 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 158 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775282989 CA5397435 |
160 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772585400 CA5397436 |
160 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5397437 rs773829518 |
160 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs146966522 CA375926514 |
162 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141246728 CA5397432 |
162 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5397431 rs780819738 |
163 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA202293982 rs776347887 CA5397430 |
165 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA375926488 rs747017654 |
166 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188501098 CA375926447 |
172 | H>L | No |
ClinGen gnomAD |
|
|
CA202293966 rs372508950 |
172 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA375926437 rs1355086314 |
174 | K>* | No |
ClinGen gnomAD |
|
|
CA375926431 rs1225276013 |
175 | T>P | No |
ClinGen TOPMed |
|
|
rs55841382 CA5397425 COSM71157 |
176 | R>K | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1285853688 CA375926424 |
176 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA202293942 rs866801810 |
181 | Q>* | No |
ClinGen TOPMed |
|
|
rs754005049 CA5397423 |
183 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5397422 rs368304698 |
186 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5397421 rs368304698 |
186 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375926356 rs1221215026 |
186 | G>S | No |
ClinGen TOPMed |
|
|
CA5397419 rs768065888 |
187 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5397418 rs149181289 |
188 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 191 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5397417 rs774912787 |
191 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5397416 rs768898568 |
192 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5397415 rs376008631 |
193 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1164101257 | 194 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs913832702 CA202292683 |
197 | E>K | No |
ClinGen TOPMed |
|
|
CA5397395 rs752079992 |
199 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA375925686 rs1176720782 |
200 | Q>* | No |
ClinGen gnomAD |
|
|
CA5397394 COSM3978671 rs764567613 |
200 | Q>P | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1589292351 CA375925653 |
201 | A>V | No |
ClinGen Ensembl |
|
|
COSM281903 CA5397390 rs370516220 |
204 | E>K | lung Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5397388 rs771569456 |
205 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772770506 CA5397389 |
205 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5397387 rs774136663 |
206 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375925551 rs1438968487 |
206 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs934683148 CA202292664 |
208 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5397386 rs768524031 |
208 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA375925456 rs1277164896 |
210 | E>G | No |
ClinGen TOPMed |
|
|
rs780335134 CA5397384 |
210 | E>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000593539 rs1333694022 CA375925419 |
211 | T>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs866292658 CA202292640 |
212 | S>F | No |
ClinGen Ensembl |
|
|
rs1008824263 CA202292637 |
214 | L>F | No |
ClinGen TOPMed |
|
|
rs1008824263 CA375925366 |
214 | L>I | No |
ClinGen TOPMed |
|
|
rs1466323128 CA375925355 |
214 | L>R | No |
ClinGen gnomAD |
|
|
CA202292639 rs1008824263 |
214 | L>V | No |
ClinGen TOPMed |
|
|
rs1435232631 CA375925343 |
215 | V>A | No |
ClinGen gnomAD |
|
|
CA5397382 rs145428184 |
215 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA202292623 rs1026167079 |
216 | T>I | No |
ClinGen Ensembl |
|
|
CA5397380 rs757389911 |
217 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA375925295 rs1277473513 |
218 | T>R | No |
ClinGen gnomAD |
|
|
rs572336497 CA202292323 |
220 | F>S | No |
ClinGen 1000Genomes |
|
|
rs750102384 CA5397352 |
222 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA375925082 rs1363028750 |
230 | M>L | No |
ClinGen gnomAD |
|
|
CA5397347 rs763651926 |
232 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202292295 rs201522266 |
233 | S>P | No |
ClinGen 1000Genomes |
|
|
rs769734470 CA5397344 |
237 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA375925029 rs1484556802 |
238 | E>G | No |
ClinGen gnomAD |
|
|
CA202292284 COSM108326 rs138764230 |
239 | Y>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs776999325 CA5397342 |
239 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1353152660 CA375925007 |
241 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5397341 rs773200576 |
241 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 242 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375925006 rs1247001197 |
242 | A>S | No |
ClinGen gnomAD |
|
|
CA375925004 rs1247001197 |
242 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5397320 rs748222977 |
244 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5397318 rs769206097 |
245 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA202291446 rs931055574 |
247 | V>I | No |
ClinGen TOPMed |
|
|
CA375924303 rs1459261223 |
250 | L>M | No |
ClinGen gnomAD |
|
|
CA375924296 rs1564540874 |
250 | L>P | No |
ClinGen Ensembl |
|
|
CA5397316 rs780433925 |
251 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs751192304 CA202291430 |
252 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113428577 CA202291429 |
252 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5397314 rs751192304 |
252 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764826745 CA5397310 |
254 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1331584086 CA375924164 |
259 | L>F | No |
ClinGen gnomAD |
|
|
rs774531130 CA5397283 |
269 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA375923076 rs1589288535 |
270 | R>G | No |
ClinGen Ensembl |
|
|
CA5397281 rs762979594 |
271 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA5397282 rs762979594 |
271 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1589288512 CA375923060 |
272 | I>M | No |
ClinGen Ensembl |
|
|
CA5397279 rs12722712 VAR_019280 |
272 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1285538531 CA375923058 |
273 | I>Q | No |
ClinGen gnomAD |
2 associated diseases with P01589
[MIM: 601942]: Diabetes mellitus, insulin-dependent, 10 (IDDM10)
A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:17676041}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 606367]: Immunodeficiency 41 with lymphoproliferation and autoimmunity (IMD41)
A disorder of immune dysregulation characterized by recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. {ECO:0000269|PubMed:23416241, ECO:0000269|PubMed:24116927}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:17676041}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A disorder of immune dysregulation characterized by recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. {ECO:0000269|PubMed:23416241, ECO:0000269|PubMed:24116927}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 regional properties for P01589
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sushi/SCR/CCP domain | 24 - 82 | IPR000436-1 |
| domain | Sushi/SCR/CCP domain | 123 - 186 | IPR000436-2 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| interleukin-2 receptor complex | A protein complex that binds interleukin-2; comprises alpha, beta, and gamma subunits. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| interleukin-2 binding | Binding to interleukin-2. |
| interleukin-2 receptor activity | Combining with interleukin-2 and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| activated T cell proliferation | The expansion of a T cell population following activation by an antigenic stimulus. |
| activation-induced cell death of T cells | A T cell apoptotic process that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| inflammatory response to antigenic stimulus | An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. |
| negative regulation of inflammatory response | Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. |
| negative regulation of T cell proliferation | Any process that stops, prevents or reduces the rate or extent of T cell proliferation. |
| Notch signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| positive regulation of activated T cell proliferation | Any process that activates or increases the rate or extent of activated T cell proliferation. |
| positive regulation of T cell differentiation | Any process that activates or increases the frequency, rate or extent of T cell differentiation. |
| regulation of CD4-positive, alpha-beta T cell proliferation | Any process that modulates the frequency, rate or extent of CD4-positive, alpha-beta T cell proliferation. |
| regulation of T cell homeostatic proliferation | Any process that modulates the frequency, rate or extent of resting T cell proliferation. |
| regulation of T cell tolerance induction | Any process that modulates the frequency, rate, or extent of T cell tolerance induction. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q38IC8 | IL2RA | Interleukin-2 receptor subunit alpha | Pan troglodytes (Chimpanzee) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDSYLLMWGL | LTFIMVPGCQ | AELCDDDPPE | IPHATFKAMA | YKEGTMLNCE | CKRGFRRIKS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GSLYMLCTGN | SSHSSWDNQC | QCTSSATRNT | TKQVTPQPEE | QKERKTTEMQ | SPMQPVDQAS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LPGHCREPPP | WENEATERIY | HFVVGQMVYY | QCVQGYRALH | RGPAESVCKM | THGKTRWTQP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QLICTGEMET | SQFPGEEKPQ | ASPEGRPESE | TSCLVTTTDF | QIQTEMAATM | ETSIFTTEYQ |
| 250 | 260 | 270 | |||
| VAVAGCVFLL | ISVLLLSGLT | WQRRQRKSRR | TI |