oca2 oculocutaneous albinism II [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: oca2provided by ZNC
Official Full Name: oculocutaneous albinism IIprovided by ZNC
Primary source: ZFIN:ZDB-GENE-070718-4
See related: Ensembl:ENSDARG00000061303 AllianceGenome:ZFIN:ZDB-GENE-070718-4
Gene type: protein coding
RefSeq status: MODEL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Summary: Acts upstream of or within iridophore differentiation; melanin biosynthetic process; and melanocyte differentiation. Predicted to be located in membrane. Predicted to be integral component of 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, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 6

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	6	NC_007117.7 (37858071..37881393) , (37895751..38055689)
105	previous assembly	GRCz10 (GCF_000002035.5)	6	NC_007117.6 (37880871..38057833)

Chromosome 6 - NC_007117.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Melanosome maturation proteins Oca2, Mitfa and Vps11 are differentially required for cisplatin resistance in zebrafish melanocytes.
Title: Melanosome maturation proteins Oca2, Mitfa and Vps11 are differentially required for cisplatin resistance in zebrafish melanocytes.
These data suggest distinct mechanisms for oca2 in establishing differentiated chromatophore number in developing zebrafish.
Title: oca2 Regulation of chromatophore differentiation and number is cell type specific in zebrafish.

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Pathways from PubChem

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General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within iridophore differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
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 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 transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in melanosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: P protein

Names: P

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

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

Reference GRCz11 Primary Assembly

Genomic

NC_007117.7 Reference GRCz11 Primary Assembly

Range

37858071..37881393

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GenBank, FASTA, Sequence Viewer (Graphics)
NC_007117.7 Reference GRCz11 Primary Assembly

Range

37895751..38055689

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_021477354.1 → XP_021333029.1 P protein isoform X2

UniProtKB/TrEMBL

A0A8M9Q7E6

Reference GRCz11 ALT_DRER_TU_1

Genomic

NW_018394658.1 Reference GRCz11 ALT_DRER_TU_1

Range

44338..219475

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_690715.9 → XP_695807.5 P protein isoform X3

UniProtKB/TrEMBL

A0A2R8Q6Z4, A0A8N7TDT0

Conserved Domains (2) summary

COG1055
Location:324 → 826

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

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 ...