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OCA2 melanosomal transmembrane protein

Summary

Gene Symbol

OCA2

Organism

Homo sapiens (human)

External Links

NCBI Gene

4948

PubChem

4948

Alliance of Genome Resources

HGNC:8101

Annotation

Keyword

Albinism
Alternative splicing
Disease variant
Glycoprotein
Reference proteome
Transmembrane helix
Transport

Proteins

Displaying 1 entry
UniProt	Protein Name
Q04671	Melanocyte-specific transporter protein Pink-eyed dilution protein homolog

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
cell population proliferation	IEA
lysosomal lumen pH elevation	IDA	25513726 32966160
melanin biosynthetic process	IBA
chloride transmembrane transport	IEA
spermatid development	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

aromatic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

alpha-amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

biosynthetic process [inference]

cellular biosynthetic process [inference]

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

secondary metabolite biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

organic substance biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

organic hydroxy compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

secondary metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

secondary metabolite biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

pigment metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

pigment biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

aromatic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

alpha-amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

cellular aromatic compound metabolic process [inference]

aromatic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

phenol-containing compound metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

cellular biosynthetic process [inference]

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

primary metabolic process [inference]

amino acid metabolic process [inference]

aromatic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

alpha-amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

small molecule metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

aromatic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

alpha-amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

organic substance metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

aromatic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

alpha-amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

organic cyclic compound metabolic process [inference]

aromatic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

phenol-containing compound metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

organic cyclic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

aromatic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

alpha-amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

organic substance biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

organic hydroxy compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

organic hydroxy compound metabolic process [inference]

phenol-containing compound metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

organic hydroxy compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

cellular process [inference]

cell population proliferation

cellular process involved in reproduction in multicellular organism [inference]

germ cell development [inference]

spermatid development

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

aromatic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

alpha-amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

cellular aromatic compound metabolic process [inference]

aromatic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

phenol-containing compound metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

cellular biosynthetic process [inference]

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

cellular developmental process [inference]

cell differentiation [inference]

pigment cell differentiation [inference]

melanocyte differentiation

cell development [inference]

germ cell development [inference]

spermatid development

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic anion transmembrane transport [inference]

chloride transmembrane transport

reproductive process [inference]

developmental process involved in reproduction [inference]

germ cell development [inference]

spermatid development

cellular process involved in reproduction in multicellular organism [inference]

germ cell development [inference]

spermatid development

developmental process [inference]

developmental process involved in reproduction [inference]

germ cell development [inference]

spermatid development

anatomical structure development [inference]

cell development [inference]

germ cell development [inference]

spermatid development

cellular developmental process [inference]

cell differentiation [inference]

pigment cell differentiation [inference]

melanocyte differentiation

cell development [inference]

germ cell development [inference]

spermatid development

homeostatic process [inference]

cellular homeostasis [inference]

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen pH elevation

intracellular pH elevation [inference]

lysosomal lumen pH elevation

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen pH elevation

intracellular pH elevation [inference]

lysosomal lumen pH elevation

monoatomic cation homeostasis [inference]

regulation of pH [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen pH elevation

intracellular pH elevation [inference]

lysosomal lumen pH elevation

intracellular monoatomic cation homeostasis [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen pH elevation

intracellular pH elevation [inference]

lysosomal lumen pH elevation

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen pH elevation

intracellular pH elevation [inference]

lysosomal lumen pH elevation

localization [inference]

establishment of localization [inference]

transport [inference]

monoatomic ion transport [inference]

monoatomic anion transport [inference]

chloride transport [inference]

chloride transmembrane transport

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

inorganic anion transport [inference]

chloride transport [inference]

chloride transmembrane transport

inorganic anion transmembrane transport [inference]

chloride transmembrane transport

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic anion transmembrane transport [inference]

chloride transmembrane transport

biological regulation [inference]

regulation of pH [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen pH elevation

intracellular pH elevation [inference]

lysosomal lumen pH elevation

regulation of biological quality [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen pH elevation

intracellular pH elevation [inference]

lysosomal lumen pH elevation

Displaying **all 4** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	IDA	19116314
endosome membrane	IDA	19116314
melanosome membrane	IBA IDA	19116314
lysosomal membrane	IDA	19116314

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

endosome membrane

pigment granule membrane [inference]

melanosome membrane

bounding membrane of organelle [inference]

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane

endosome membrane

pigment granule membrane [inference]

melanosome membrane

Displaying **all 2** entries
GO Term	Evidence Code	PMID
protein binding	IPI	19116314
chloride channel activity	IDA	25513726

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic ion channel activity [inference]

monoatomic anion channel activity [inference]

chloride channel activity

monoatomic anion transmembrane transporter activity [inference]

monoatomic anion channel activity [inference]

chloride channel activity

chloride transmembrane transporter activity [inference]

chloride channel activity

inorganic molecular entity transmembrane transporter activity [inference]

inorganic anion transmembrane transporter activity [inference]

chloride transmembrane transporter activity [inference]

chloride channel activity

passive transmembrane transporter activity [inference]

channel activity [inference]

monoatomic ion channel activity [inference]

monoatomic anion channel activity [inference]

chloride channel activity

salt transmembrane transporter activity [inference]

chloride transmembrane transporter activity [inference]

chloride channel activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

transporter

Functional Category

G: Carbohydrate transport and metabolism
P: Inorganic ion transport and metabolism
T: Signal transduction mechanisms

Displaying 1 entry
InterPro
Citrate transporter-like domain

Disease

Disease Ontology

Displaying **all 7** entries
DO ID	Disease Name	Source
DOID:0050632	oculocutaneous albinism	Alliance of Genome Resources
DOID:0070096	oculocutaneous albinism type II	Alliance of Genome Resources
DOID:10123	pigmentation disease	Alliance of Genome Resources
DOID:1749	squamous cell carcinoma	Alliance of Genome Resources
DOID:2513	basal cell carcinoma	Alliance of Genome Resources
DOID:8866	actinic keratosis	Alliance of Genome Resources
DOID:8923	skin melanoma	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 73 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	18431		MGI:97454	MOUSE56708
Drosophila melanogaster	33700		FB:FBgn0031649
Drosophila melanogaster	38299		FB:FBgn0035332
Drosophila melanogaster	39471		FB:FBgn0036329
Drosophila melanogaster	249663		FB:FBgn0041150
Drosophila melanogaster	318887		FB:FBgn0051693
Sus scrofa	397171			PIGXX09238
Pan troglodytes	453261	9598_0:003d3d		PANTR09810
Bos taurus	524289			BOVIN23807
Danio rerio	567419		ZFIN:ZDB-GENE-070718-4	DANRE39223

GlyTouCan

GlyComb

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UniCarb-DR

LM-GlycoRepo

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Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements