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
Acts upstream of or within iridophore differentiation; melanin biosynthetic process; and melanocyte differentiation. Predicted to be located in membrane. Predicted to be active in melanosome 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
1 - 4 of 4
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
Family IPR051475 Diverse Ion Transporter
1 - 2 of 2
Domain Details Per Protein
Protein Additional Resources Length Citrate transporter-like domain Diverse Ion Transporter
UniProtKB:A0A2R8Q6Z4 InterPro 834
UniProtKB:A0A8M9PN14 InterPro 753
UniProtKB:A0A8M9Q7E6 InterPro 176
UniProtKB:A0AB32TT69 InterPro 838
1 - 4 of 4
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA oca2-201 (1) Ensembl 2,412 nt
mRNA oca2-202 (1) Ensembl 2,430 nt
1 - 2 of 2
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