Gene

oca2

ID
ZDB-GENE-070718-4
Name
oculocutaneous albinism II
Symbol
oca2 Nomenclature History
Previous Names
  • P gene
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Involved in iridophore differentiation; melanin biosynthetic process; and melanocyte differentiation. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in actinic keratosis; oculocutaneous albinism type II; pigmentation disease; skin cancer (multiple); and squamous cell carcinoma. Orthologous to human OCA2 (OCA2 melanosomal transmembrane protein).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Seberg et al., 2017
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With oca2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
oculocutaneous albinism type II Alliance Albinism, brown oculocutaneous 203200
oculocutaneous albinism type II Alliance Albinism, oculocutaneous, type II 203200
[Skin/hair/eye pigmentation 1, blond/brown hair] 227220
[Skin/hair/eye pigmentation 1, blue/nonblue eyes] 227220
Associated With oca2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR004680 Citrate transporter-like domain
Domain Details Per Protein
Protein Length Citrate transporter-like domain
UniProtKB:F8W4N1 809
UniProtKB:E7EXF7 803
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations