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Gene : SLC25A12 Homo sapiens

Name  ? solute carrier family 25 member 12 Cytological Location  2q31.1
Brief Description  solute carrier family 25 member 12
description  This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
  • synonyms:
  • HGNC:10982,
  • uc002uhh.4,
  • Aralar,
  • NM_003705,
  • AGC1,
  • EIEE39,
  • solute carrier family 25 (mitochondrial carrier, Aralar), member 12,
  • ARALAR,
  • Y14494,
  • solute carrier family 25 (aspartate/glutamate carrier), member 12,
  • OTTHUMG00000134290,
  • SLC25A12
  • identifiers:
  • 8604,
  • ENSG00000115840,
  • SLC25A12

Genome feature

Region: gene ? Length: 110902  
Location: 2:171783405-171894306 reverse strand Cyto location: 2q31.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

1 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

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Other

2011 SN Ps

5 Cross References

19 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results