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oculocutaneous albinism II

Summary

Gene Symbol

Oca2

Organism

Mus musculus (house mouse)

External Links

NCBI Gene

18431

PubChem

18431

Alliance of Genome Resources

MGI:97454

Annotation

Keyword

Albinism
Glycoprotein
Reference proteome
Transmembrane helix
Transport

Proteins

Displaying 1 entry
UniProt	Protein Name
Q62052	Melanocyte-specific transporter protein Pink-eyed dilution protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
melanin biosynthetic process from tyrosine	ISS
melanin biosynthetic process from tyrosine	ISO
spermatid development	IMP	7317942
cell population proliferation	IMP	9548375
melanocyte differentiation	IMP	2379821

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

pigmentation

developmental pigmentation

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 entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
lysosomal membrane	ISO
lysosomal membrane	IEA
endoplasmic reticulum membrane	ISO
endoplasmic reticulum membrane	IEA
endosome membrane	ISO

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
chloride channel activity	ISS
chloride channel activity	ISO

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

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 1 entry
DO ID	Disease Name	Source
DOID:0050632	oculocutaneous albinism	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 66 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Homo sapiens	4948	Xenbase:XB-GENE-989255	HUMAN21944
Xenopus tropicalis	18431	Xenbase:XB-GENE-989255
Sus scrofa	397171		PIGXX09238
Pan troglodytes	453261		PANTR09810
Bos taurus	524289		BOVIN23807
Danio rerio	567419		DANRE39223
Monodelphis domestica	100012265		MONDO32271
Equus caballus	100034107		HORSE16646
Oryzias latipes	100049406		ORYLA13515
Pongo abelii	100171838		PONAB08670

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements