| Type | Description |
|---|---|
| Definition | oculocutaneous albinism II |
| Date | Results | Publications |
|---|---|---|
| 2017-11-25 15:47:00 | These results suggest that impairment in GABRB3 downregulates OCA2 and indirectly causes ocular hypopigmentation and visual defects in Angelman syndrome (AS) and Prader-Willi syndrome | 28009282 |
| 2017-02-18 11:34:00 | Standard chromatin immunoprecipitation and reporter assays suggest that TBX2 represses Oca2 at least in part directly. Hence, the results suggest that TBX2 may act as a nexus linking cell proliferation and melanogenesis | 26971330 |
| 2016-03-05 10:08:00 | Nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. | 25736709 |
| 2015-12-26 11:56:00 | the inhibition of P-protein can significantly change the melanosomal morphology, types and their respective numbers, and provided a novel strategy for the control of melanin synthesis. | 25656818 |
| 2014-08-23 11:17:00 | High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene. | 24118800 |
| Type | IDs |
|---|---|
| Synonymous |
D7H15S12,
D7Icr28RN,
D7Nic1,
p,
p |
| Gene |
UniProtKB-ID:
P_MOUSE
UniprotKB:
Q62052
UniParc:
UPI0000028603
EMBL:
M97900,
BC120549,
BC119220
Ensembl:
ENSMUSG00000030450
KO:
mmu:18431
|
| Nucleutide sequences |
EMBL-CDS:
AAI19221.1,
AAA39908.1,
AAI20550.1
Ensembl_TRS:
ENSMUST00000032633
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000032633
RefSeq:
XP_006540763.1,
NP_068679.1,
XP_006540762.1
|
| Others |
UniRef100:
UniRef100_Q62052
UniRef90:
UniRef90_Q62052
UniRef50:
UniRef50_Q62052
UniGene:
Mm.137052
CCDS:
CCDS21319.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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