| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4948 |
Name | OCA2 |
Synonymous | BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1;oculocutaneous albinism II;OCA2;oculocutaneous albinism II |
Definition | P protein|eye color 2 (central brown)|eye color 3 (brown)|hair color 3 (brown)|melanocyte-specific transporter protein|oculocutaneous albinism II (pink-eye dilution homolog, mouse)|pink-eyed dilution protein homolog|total brown iris pigmentation |
Position | 15q |
Gene Type | protein-coding |
Gene Regulation: | Transcription Factors Post Translational Modification From dbPTM Methylation Profile From DiseaseMeth database |
Transcription Factors [Top] |
Regulation From TransFac database | OCA2(h) --> OCA2-isoform1(h) (expression). | OCA2(h) + NDP-Gly --> OCA2(h){gly} + NMP (glycosylation) | OCA2(h) + alpha-adaptin(h) <==> OCA2(h):alpha-adaptin(h) (binding) | gamma-adaptin(h) + OCA2(h) <==> gamma-adaptin(h):OCA2(h) (binding) | OCA2(h) + mu-adaptin 3A(h) <==> OCA2(h):mu-adaptin 3A(h) (binding) | OCA2(h) --> OCA2(h) (expression). | OCA2(h) --> OCA2-isoform2(h) (expression). |
|---|
Post Translational Modification [Top] | |||
Location (AA) | PTM type | Literature | Database | 214 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | 218 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | 273 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | 442 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | 781 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 |
|---|---|---|---|
Methylation Profile [Top] | ||
Chromosome | Location | Source |
|---|---|---|
chr15 |
Promoter: 26017561 - 26019561 | Agilent_014791 |
chr15 |
Promoter: 26017561 - 26019561 | GSE27584 |
chr15 |
Promoter: 26017561 - 26019561 | Agilent_014791_44K |