Oca2 OCA2 melanosomal transmembrane protein [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Oca2provided by RGD
Official Full Name: OCA2 melanosomal transmembrane proteinprovided by RGD
Primary source: RGD:2318412
See related: EnsemblRapid:ENSRNOG00000014465 AllianceGenome:RGD:2318412
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable chloride channel activity. Predicted to be involved in lysosomal lumen pH elevation; melanin biosynthetic process from tyrosine; and melanocyte differentiation. Predicted to act upstream of or within cell population proliferation; developmental pigmentation; and spermatid development. Predicted to be located in endoplasmic reticulum membrane; endosome membrane; and lysosomal 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). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Uterus (RPKM 193.2), Adrenal (RPKM 113.0) and 3 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q22

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (116252026..116581838)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (107116278..107446093)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (114661970..114987433)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Markers

d1rat31 (e-PCR)
- UniSTS:120340

AI007682 (e-PCR)
- UniSTS:250513

CH04h02 (e-PCR), detects polymorphism
- UniSTS:539580

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables chloride channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within developmental pigmentation	ISO Inferred from Sequence Orthology more info
involved_in lysosomal lumen pH elevation	ISO Inferred from Sequence Orthology more info
involved_in melanin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within melanin biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in melanin biosynthetic process from tyrosine	ISO Inferred from Sequence Orthology more info
involved_in melanocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within melanocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pigmentation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatid development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
is_active_in melanosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: P protein

Names: oculocutaneous albinism II; pink-eyed dilution-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001271493.1 → NP_001258422.1 P protein

See identical proteins and their annotated locations for NP_001258422.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/TrEMBL

A6KD35, Q4LEV3

Related

ENSRNOP00000096097.2, ENSRNOT00000108070.2

Conserved Domains (2) summary

COG1055
Location:335 → 834

ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]

cd01116
Location:342 → 833

P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...