Oca2 Gene Summary [Mouse]
Predicted to enable chloride channel activity. 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, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Oca2 |
| Official Name | oculocutaneous albinism II [Source:MGI Symbol;Acc:MGI:97454] |
| Ensembl ID | ENSMUSG00000030450 |
| Bio databases IDs | |
| Aliases | oculocutaneous albinism II |
| Synonyms | BEY, BEY1, BEY2, BOCA, D15S12, D7H15S12, D7Icr28RN, D7Nic1, EYCL, EYCL2, EYCL3, HCL3, OCA2 melanosomal transmembrane protein, oculocutaneous albinism II, p<cas>, PED, SHEP1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Oca2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- acidic-cluster dileucine motif
- cytoplasmic domain
- glycine dehydrogenase (decarboxylating)
- ArsB_NhaD_permease
- chloride channel
- protein binding
- transporter
- citrate transporter
- anion transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
- TYR
- melanin
disease
- cancer
- epithelial cancer
- tyrosinase-positive oculocutaneous albinism
- variation in skin/hair/eye pigmentation 1
- oculocutaneous albinism
- eczema
- cataract
- albinism
- hereditary disorder
- epithelial basal cell carcinoma
phenotypes
- abnormal NK cell physiology
- abnormal acrosome morphology
- abnormal circulating HDL cholesterol level
- abnormal circulating cholesterol level
- abnormal coat/hair pigmentation
- abnormal eye pigmentation
- abnormal fertility/fecundity
- abnormal gait
- abnormal gametes
- abnormal gametogenesis
- abnormal glucose homeostasis
- abnormal involuntary movement
- abnormal lipid homeostasis
- abnormal maternal nurturing
- abnormal motor capabilities/coordination/movement
- abnormal motor coordination/ balance
- abnormal oogenesis
- abnormal postnatal growth/weight/body size
- abnormal pup retrieval
- abnormal sperm flagellum morphology
- abnormal sperm head morphology
- abnormal spermatid morphology
- abnormal spermatogenesis
- abnormal spermiogenesis
- absent eye pigmentation
- cleft palate
- darkened coat color
- decreased body size
- decreased body weight
- decreased ear pigmentation
- decreased eye pigmentation
- decreased litter size
- decreased male germ cell number
- decreased tail pigmentation
- diluted coat color
- enlarged sperm head
- female infertility
- hepatic steatosis
- hyperglycemia
- impaired coordination
- increased body weight
- increased circulating cholesterol level
- increased circulating insulin level
- increased circulating triglyceride level
- increased kidney weight
- increased liver weight
- increased spleen weight
- increased susceptibility to bacterial infection
- increased susceptibility to induced colitis
- increased total fat pad weight
- infertility
- jerky movement
- lethality complete penetrance
- male infertility
- mosaic coat color
- mottled coat
- multinucleated giant male germ cells
- neonatal lethality
- neonatal lethality incomplete penetrance
- nervous
- no abnormal phenotype detected
- ocular albinism
- perinatal lethality
- perinatal lethality incomplete penetrance
- phenotypic reversion
- postnatal growth retardation
- postnatal lethality
- postnatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- premature death
- prenatal lethality
- prenatal lethality complete penetrance
- preweaning lethality complete penetrance
- reduced male fertility
- small seminiferous tubules
- small testis
- teratozoospermia
- testis hypoplasia
- tremors
- variegated coat color
- yellow coat color
role in cell
- proliferation
- differentiation
- development
- pigmentation
- mistrafficking in
- synthesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- endoplasmic reticulum membrane
- lysosome membrane
- endosomal membrane
- melanosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Oca2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- melanin biosynthetic process
- melanocyte differentiation
- spermatid development
- melanin biosynthetic process from tyrosine
- lysosomal lumen pH elevation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- melanosome membrane
- endosome membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- chloride channel activity