• Gene id: 56942

Gene Summary

• Gene Symbol: CMC2   Gene   UCSC   Ensembl
• Aliases: 2310061C15Rik, C16orf61, DC13
• Gene name: C-X9-C motif containing 2
• Alternate names: COX assembly mitochondrial protein 2 homolog, C-x(9)-C motif containing 2,
• Gene location: 16q23.2 (81007035: 80966447)     Exons: 10     NC_000016.10

Protein Summary

• Protein general information: Q9NRP2  
  • Name: COX assembly mitochondrial protein 2 homolog
  • Length: 79  
  • Mass: 9460
• Sequence:

  MHPDLSPHLHTEECNVLINLLKECHKNHNILKFFGYCNDVDRELRKCLKNEYVENRTKSREHGIAMRKKLFNPPE
  ESEK

• Structural information:
  • Protein Domains: (11..5-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR013892  
  • Prosite: PS51808
  • STRING: ENSP00000219400
• Other Databases: GeneCards:  CMC2  Malacards:  CMC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray