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Gene : SLC45A2 Homo sapiens

Name  ? solute carrier family 45 member 2 Cytological Location  5p13.2
Brief Description  solute carrier family 45 member 2
Description  This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
  • synonyms:
  • OCA4,
  • SHEP5,
  • 1A1,
  • uc003jid.4,
  • NM_016180,
  • membrane associated transporter,
  • OTTHUMG00000090719,
  • OCA4,
  • HGNC:16472,
  • AIM-1,
  • AIM1,
  • solute carrier family 45, member 2,
  • MATP,
  • MATP,
  • AF172849,
  • SLC45A2
  • identifiers:
  • 51151,
  • ENSG00000164175,
  • SLC45A2

Genome feature

Region: gene ? Length: 40071  
Location: 5:33944623-33984693 reverse strand Cyto location: 5p13.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

333 SN Ps

5 Cross References

17 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results