Mus musculus Gene: Oca2 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-190095.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | Oca2 | ||||||||||||||||||
Gene Name | oculocutaneous albinism II | ||||||||||||||||||
Synonyms | D7H15S12; D7Icr28RN; D7Nic1; p | ||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||
Ensembl Gene | ENSMUSG00000030450 | ||||||||||||||||||
Encoded Proteins |
oculocutaneous albinism II
oculocutaneous albinism II
oculocutaneous albinism II
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 7:56239760-56536517 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | B5 | ||||||||||||||||||
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
Bos taurus
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Gene ID
Gene Order
Not yet available
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Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | D3Z251 D6RCY7 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 18431 | ||||||||||||||||||
UniGene | Mm.137052 | ||||||||||||||||||
RefSeq | NM_021879 XM_006540699 | ||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS21319 | ||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
MGI ID | MGI:97454 | ||||||||||||||||||
MGI Symbol | Oca2 | ||||||||||||||||||
EMBL | AC102150 AC102220 AC102299 AC121900 | ||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | 18431 | ||||||||||||||||||