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Gene : CHCHD4 Homo sapiens

Name  ? coiled-coil-helix-coiled-coil-helix domain containing 4 Cytological Location  3p25.1
Brief Description  coiled-coil-helix-coiled-coil-helix domain containing 4
Description  CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]
  • synonyms:
  • FLJ31709,
  • mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae),
  • uc003byj.5,
  • TIMM40,
  • translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae),
  • HGNC:26467,
  • BC017082,
  • NM_144636,
  • CHCHD4,
  • MIA40,
  • TIMM40,
  • OTTHUMG00000129805,
  • MIA40
  • identifiers:
  • 131474,
  • ENSG00000163528,
  • CHCHD4

Genome feature

Region: gene ? Length: 12794  
Location: 3:14112077-14124870 reverse strand Cyto location: 3p25.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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

Gene Ontology

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Other

3740 SNPs

5 Cross References

16 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results