Oca2 oculocutaneous albinism II [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Oca2provided by MGI
Official Full Name: oculocutaneous albinism IIprovided by MGI
Primary source: MGI:MGI:97454
See related: Ensembl:ENSMUSG00000030450 AllianceGenome:MGI:97454
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: p; D7Nic1; p<cas>; D7H15S12; D7Icr28RN
Summary: 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, Dec 2024]
Expression: Biased expression in ovary adult (RPKM 2.1), adrenal adult (RPKM 1.2) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B5; 7 33.44 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (55889341..56186266)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (56239593..56536518)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results suggest that impairment in GABRB3 downregulates OCA2 and indirectly causes ocular hypopigmentation and visual defects in Angelman syndrome (AS) and Prader-Willi syndrome
Title: Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.
Standard chromatin immunoprecipitation and reporter assays suggest that TBX2 represses Oca2 at least in part directly. Hence, the results suggest that TBX2 may act as a nexus linking cell proliferation and melanogenesis
Title: The transcription factor TBX2 regulates melanogenesis in melanocytes by repressing Oca2.
Nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.
Title: A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.
the inhibition of P-protein can significantly change the melanosomal morphology, types and their respective numbers, and provided a novel strategy for the control of melanin synthesis.
Title: Unrevealing the role of P-protein on melanosome biology and structure, using siRNA-mediated down regulation of OCA2.
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
Title: High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
Oca2-null melanocytes adapt to acute endoplasmic reticulum stress by disruption of pro-apoptotic Perk signaling, which promotes cell survival.
Title: Loss of Oca2 disrupts the unfolded protein response and increases resistance to endoplasmic reticulum stress in melanocytes.
These results suggest that the increased apoptosis in keratinocytes and melanoblasts/melanocytes is related to the reduced proliferative and differentiative activity of p/p melanoblasts.
Title: Reduced proliferative and differentiative activity of mouse pink-eyed dilution melanoblasts is related to apoptosis.
Data suggest functional links between OCA2 and the BLOC-1, BLOC-2, and AP-3 protein complexes involved in melanosome biogenesis.
Title: Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation.
These results suggest that the pink-eyed dilution allele greatly inhibits eumelanin synthesis, but not pheomelanin synthesis.
Title: The mouse pink-eyed dilution allele of the P-gene greatly inhibits eumelanin but not pheomelanin synthesis.
controls the processing of tyrosinase
Title: Pink-eyed dilution protein controls the processing of tyrosinase.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically and radiation induced (3)
Chemically induced (ENU) (14)
Chemically induced (other) (1)
Endonuclease-mediated (2)
Radiation induced (48) 1 citation
Spontaneous (21) 1 citation
Targeted (1) 1 citation

General gene information

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Markers

07.MMHAP53FLC1.seq (e-PCR)
- UniSTS:122890

D7Mit295 (e-PCR), detects polymorphism
- UniSTS:131194

AI007682 (e-PCR)
- UniSTS:250513

Oca2 (e-PCR), detects polymorphism
- UniSTS:516572

p (e-PCR), detects polymorphism
- UniSTS:144107

p (e-PCR), detects polymorphism
- UniSTS:144108

D10Jhu51 (e-PCR), detects polymorphism
- UniSTS:158707

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chloride channel activity	ISO Inferred from Sequence Orthology more info
enables chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosomal lumen pH elevation	ISO Inferred from Sequence Orthology more info
involved_in lysosomal lumen pH elevation	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within melanin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanin biosynthetic process from tyrosine	ISO Inferred from Sequence Orthology more info
involved_in melanin biosynthetic process from tyrosine	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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: melanocyte-specific transporter protein; pink-eyed dilution protein

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_021879.3 → NP_068679.1 P protein

See identical proteins and their annotated locations for NP_068679.1

Status: VALIDATED

Source sequence(s)

AC102150, AC102220, AC102299, AC121900

Consensus CDS

CCDS21319.1

UniProtKB/Swiss-Prot

Q0VBP9, Q62052

Related

ENSMUSP00000032633.6, ENSMUST00000032633.12

Conserved Domains (1) summary

cd01116
Location:333 → 824

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 ...

RNA

NR_157030.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC102150, AC102220, AC102299, AC121900
NR_157031.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC102150, AC102220, AC102299, AC121900

Related

ENSMUST00000152693.8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

55889341..56186266

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540700.1 → XP_006540763.1 P protein isoform X2

Conserved Domains (1) summary

cd01116
Location:333 → 814

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 ...
XM_006540699.1 → XP_006540762.1 P protein isoform X1

See identical proteins and their annotated locations for XP_006540762.1

UniProtKB/Swiss-Prot

Q0VBP9, Q62052

Conserved Domains (1) summary

cd01116
Location:333 → 824

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 ...