Oca2 - oculocutaneous albinism II Gene

Also Known as p; D7Nic1; p; D7H15S12; D7Icr28RN

Species: Mus musculus

Gene Type: protein coding
Gene ID: 18431

Summary

Acts upstream of or within several processes, including melanin biosynthetic process; melanocyte differentiation; and spermatid development. Predicted to be located in endoplasmic reticulum membrane; endosome membrane; and lysosomal membrane. Predicted to be active in melanosome membrane. Is expressed in brain and eye. Used to study oculocutaneous albinism. 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). [provided by Alliance of Genome Resources, Apr 2022]

Oca2 Products (1)

mRNA Protein Name
NM_021879.3 NP_068679.1 P protein

Gene Ontology

  • Biological Process
Biological Process GO Annotation Evidence References Source
acts upstream of or within cell population proliferation IMP
IMP: Inferred from mutant phenotype
9548375 MGI
acts upstream of or within developmental pigmentation IMP
IMP: Inferred from mutant phenotype
11756244 MGI
acts upstream of or within melanin biosynthetic process IMP
IMP: Inferred from mutant phenotype
7665913 MGI
acts upstream of or within melanocyte differentiation IMP
IMP: Inferred from mutant phenotype
2379821 MGI
acts upstream of or within pigmentation IMP
IMP: Inferred from mutant phenotype
2379821 MGI
acts upstream of or within spermatid development IMP
IMP: Inferred from mutant phenotype
7317942 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

P protein

  • melanocyte-specific transporter protein

  • pink-eyed dilution protein

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09739 OCA2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Oca2 NCBI NCBI:4948