• Gene id: 84269

Gene Summary

• Gene Symbol: CHCHD5   Gene   UCSC   Ensembl
• Aliases: C2orf9, CHTM1, MIC14, MIX14
• Gene name: coiled-coil-helix-coiled-coil-helix domain containing 5
• Alternate names: coiled-coil-helix-coiled-coil-helix domain-containing protein 5, mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog,
• Gene location: 2q14.1 (112584446: 112589039)     Exons: 6     NC_000002.12
• OMIM: 616978

Protein Summary

• Protein general information: Q9BSY4  
  • Name: Coiled coil helix coiled coil helix domain containing protein 5
  • Length: 110  
  • Mass: 12395
• Sequence:

  MQAALEVTARYCGRELEQYGQCVAAKPESWQRDCHYLKMSIAQCTSSHPIIRQIRQACAQPFEAFEECLRQNEAA
  VGNCAEHMRRFLQCAEQVQPPRSPATVEAQPLPAS

• Structural information:
  • Protein Domains: (9..5-)
    (/note="CHCH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150-)
    (55..9-)
    (/note="CHCH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR010625  IPR031731  
  • Prosite: PS51808
  • PDB: 2LQL
  • PDBsum: 2LQL
  • STRING: ENSP00000325655
• Other Databases: GeneCards:  CHCHD5  Malacards:  CHCHD5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005758	mitochondrial intermembrane space	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray