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Gene : COX14 Homo sapiens

Name  ? cytochrome c oxidase assembly factor COX14 Cytological Location  12q13.12
Brief Description  cytochrome c oxidase assembly factor COX14
Description  This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
  • synonyms:
  • NM_032901,
  • COX14 cytochrome c oxidase assembly homolog (S. cerevisiae),
  • uc001rwb.3,
  • COX14,
  • COX14, cytochrome c oxidase assembly factor,
  • C12orf62,
  • PCAG1,
  • chromosome 12 open reading frame 62,
  • HGNC:28216,
  • MC4DN10,
  • OTTHUMG00000185635,
  • C12orf62,
  • MGC14288
  • identifiers:
  • 84987,
  • ENSG00000178449,
  • COX14

Genome feature

Region: gene ? Length: 8218  
Location: 12:50112236-50120453 Cyto location: 12q13.12


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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 --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

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

3740 SN Ps

5 Cross References

17 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results