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Gene : CHCHD3 Homo sapiens

Name  ? coiled-coil-helix-coiled-coil-helix domain containing 3 Cytological Location  7q32.3-q33
Brief Description  coiled-coil-helix-coiled-coil-helix domain containing 3
Description  The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
  • synonyms:
  • mitochondrial contact site and cristae organizing system subunit 19,
  • Mic19,
  • mitochondrial inner membrane organizing system 3,
  • FLJ20420,
  • PPP1R22,
  • PPP1R22,
  • OTTHUMG00000155231,
  • MINOS3,
  • BC011596,
  • HGNC:21906,
  • uc003vre.4,
  • Mic19,
  • MICOS19,
  • CHCHD3,
  • MICOS19,
  • MINOS3,
  • protein phosphatase 1, regulatory subunit 22,
  • NM_017812
  • identifiers:
  • 54927,
  • ENSG00000106554,
  • CHCHD3

Genome feature

Region: gene ? Length: 297221  
Location: 7:132784870-133082090 reverse strand Cyto location: 7q32.3-q33


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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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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]

Homology

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

671 SNPs

5 Cross References

15 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results