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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

JoGo

OCA2

TogoVar

OCA2

Annotation

Keyword

Albinism
Alternative splicing
Disease variant
Glycoprotein
Proteomics identification
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 9 in total

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GO Term	Evidence Code	PMID
melanin biosynthetic process from tyrosine	IDA	25513726 32966160
spermatid development
cell population proliferation
melanocyte differentiation	IBA	http://purl.obolibrary.org/obo/go/references/0000033
endosome to melanosome transport	IEA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

secondary metabolite biosynthetic process [inference]

melanin biosynthetic process

melanin biosynthetic process from tyrosine

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

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

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

primary metabolic process [inference]

amino acid metabolic process [inference]

aromatic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

proteinogenic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

alpha-amino acid metabolic process [inference]

L-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]

aromatic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

proteinogenic amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

alpha-amino acid metabolic process [inference]

L-amino acid metabolic process [inference]

tyrosine metabolic process [inference]

melanin biosynthetic process from tyrosine

cell population proliferation

intercellular transport [inference]

endosome to pigment granule transport [inference]

endosome to melanosome transport

cellular process involved in reproduction in multicellular organism [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

cellular localization [inference]

intracellular transport [inference]

endosome to pigment granule transport [inference]

endosome to melanosome transport

transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

reproductive process [inference]

developmental process involved in reproduction [inference]

germ cell development [inference]

spermatid development

multicellular organismal reproductive process [inference]

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 intracellular pH [inference]

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 intracellular pH [inference]

intracellular pH elevation [inference]

lysosomal lumen pH elevation

monoatomic cation homeostasis [inference]

regulation of pH [inference]

regulation of intracellular pH [inference]

intracellular pH elevation [inference]

lysosomal lumen pH elevation

intracellular monoatomic cation homeostasis [inference]

regulation of intracellular pH [inference]

intracellular pH elevation [inference]

lysosomal lumen pH elevation

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

regulation of intracellular pH [inference]

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

intercellular transport [inference]

endosome to pigment granule transport [inference]

endosome to melanosome transport

inorganic anion transport [inference]

chloride transport [inference]

chloride transmembrane transport

intracellular transport [inference]

endosome to pigment granule transport [inference]

endosome to melanosome transport

transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

establishment of localization in cell [inference]

intracellular transport [inference]

endosome to pigment granule transport [inference]

endosome to melanosome transport

cellular localization [inference]

intracellular transport [inference]

endosome to pigment granule transport [inference]

endosome to melanosome transport

biological regulation [inference]

regulation of pH [inference]

regulation of intracellular pH [inference]

intracellular pH elevation [inference]

lysosomal lumen pH elevation

regulation of biological quality [inference]

regulation of intracellular pH [inference]

intracellular pH elevation [inference]

lysosomal lumen pH elevation

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
lysosomal membrane	IDA	19116314
endoplasmic reticulum membrane	IDA	19116314
cell surface	IEA
endosome membrane	IDA	19116314
membrane	IEA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

cell surface

membrane

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

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

pigment granule [inference]

melanosome

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

pigment granule [inference]

melanosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

pigment granule [inference]

melanosome

Displaying **all 3** entries
GO Term	Evidence Code	PMID
chloride channel activity	IDA	25513726
protein binding	IPI	19116314
protein-containing complex binding	IEA

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

passive transmembrane transporter activity [inference]

channel activity [inference]

monoatomic ion channel activity [inference]

monoatomic anion channel activity [inference]

chloride channel activity

binding [inference]

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

p protein

Functional Category

G: Carbohydrate transport and metabolism
K: Transcription
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
melanin biosynthetic process
melanocyte differentiation

Displaying 1 entry
InterPro
Citrate transporter-like domain

Disease

Disease Ontology

Displaying **all 6** entries
DO ID	Disease Name	Source
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