| Type | Description |
|---|---|
| Definition | OCA2 melanosomal transmembrane protein |
| Date | Results | Publications |
|---|---|---|
| 2020-12-19 13:44:00 | The distinctive geographic patterns of common pigmentation variants at the OCA2 gene. | 32963319 |
| 2020-10-31 13:20:00 | Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants. | 32966289 |
| 2019-12-14 10:09:00 | The main type of ocular albinism is oculocutaneous albinism type II in China's Liuzhou region, where the most common variations of the P gene were c.803-3C>G and c.1327G>A (p.Val443Ile). | 31813138 |
| 2019-12-07 10:41:00 | Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient. | 31345173 |
| 2018-06-23 11:28:00 | The results of this study is the first to show an association between OCA2 variants and time to first cSCC post-transplant. | 28456133 |
| Type | IDs |
|---|---|
| Synonymous | BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1 |
| Gene |
UniProtKB-ID:
P_HUMAN
UniprotKB:
Q04671
UniParc:
UPI0000072761,
UPI000013D158,
UPI00000700F8
EMBL:
BC012097,
U19156,
U19160,
U19171,
U19169,
U19166,
U19163,
U19168,
U19172,
U19159,
U19162,
U19158,
U19157,
M99564,
U19176,
U19155,
U19164,
U19161,
U19175,
U19165,
U19167,
U19154,
U19173,
M97901,
U19170,
U19153,
U19174
Ensembl:
ENSG00000104044
KO:
hsa:4948
|
| Nucleutide sequences |
EMBL-CDS:
AAH12097.1,
AAA36430.1,
AAA36477.1,
AAC13784.1,
AAC13783.1
Ensembl_TRS:
ENST00000354638,
ENST00000353809
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000346659,
ENSP00000261276
RefSeq:
XP_016877744.1,
XP_016877746.1,
XP_016877750.1,
XP_016877752.1,
XP_011519942.1,
XP_016877751.1,
XP_016877745.1,
XP_016877753.1,
NP_000266.2,
XP_016877754.1,
XP_016877747.1,
XP_016877749.1,
NP_001287913.1,
XP_016877748.1
|
| Others |
UniRef100:
UniRef100_Q04671
UniRef90:
UniRef90_Q04671
UniRef50:
UniRef50_Q04671
UniGene:
Hs.654411
CCDS:
CCDS10020.1,
CCDS73701.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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