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Gene : COA5 Homo sapiens

Name  ? cytochrome c oxidase assembly factor 5 Cytological Location  2q11.2
Brief Description  cytochrome c oxidase assembly factor 5
Description  This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]
  • synonyms:
  • NM_001008215,
  • HGNC:33848,
  • MGC52110,
  • uc002syz.4,
  • C2orf64,
  • OTTHUMG00000153101,
  • C2orf64,
  • Pet191,
  • CEMCOX3,
  • Pet191,
  • COA5,
  • chromosome 2 open reading frame 64,
  • FLJ27524,
  • MC4DN9,
  • 6330578E17Rik
  • identifiers:
  • 493753,
  • ENSG00000183513,
  • COA5

Genome feature

Region: gene ? Length: 9199  
Location: 2:98599314-98608512 reverse strand Cyto location: 2q11.2


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Function

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0 Pathways

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

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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3740 SN Ps

5 Cross References

17 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results