Bos taurus Gene: OCA2 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-638714.3 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | OCA2 | ||||||||||||||||||
Gene Name | Uncharacterized protein | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Bos taurus | ||||||||||||||||||
Ensembl Gene | ENSBTAG00000009831 | ||||||||||||||||||
Encoded Proteins |
oculocutaneous albinism II
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000104044:
This gene encodes the human homologue of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Mutations in this gene result in type 2 oculocutaneous albinism. [provided by RefSeq, Jul 2008] This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 2:347042-598104 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | |||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | E1BA42 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | |||||||||||||||||||
UniGene | |||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:8101 | ||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | DAAA02003800 DAAA02003801 DAAA02003802 DAAA02003803 DAAA02003804 | ||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||