• Gene id: 170622

Gene Summary

• Gene Symbol: COMMD6   Gene   UCSC   Ensembl
• Aliases: Acrg
• Gene name: COMM domain containing 6
• Alternate names: COMM domain-containing protein 6, Acrg embryonic lethality minimal region ortholog,
• Gene location: 13q22.2 (75549438: 75525213)     Exons: 6     NC_000013.11
• Gene summary(Entrez): COMMD6 belongs to a family of NF-kappa-B (see RELA; MIM 164014)-inhibiting proteins characterized by the presence of a COMM domain (see COMMD1; MIM 607238) (de Bie et al., 2006 [PubMed 16573520]).[supplied by OMIM, Mar 2009]
• OMIM: 612377

Protein Summary

• Protein general information: Q7Z4G1  
  • Name: COMM domain containing protein 6
  • Length: 85  
  • Mass: 9638
  • Tissue specificity: Ubiquitous. Expressed in brain, heart, skeletal muscle, lung, pancreas, liver, kidney, small intestine and placenta. {ECO
• Sequence:

  MEASSEPPLDAKSDVTNQLVDFQWKLGMAVSSDTCRSLKYPYVAVMLKVADHSGQVKTKCFEMTIPQFQNFYRQF
  KEIAAVIETV

• Structural information:
  • Protein Domains: (18..8-)
    (/note="COMM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00602"-)
  • Interpro: IPR017920  
  • Prosite: PS51269
• Other Databases: GeneCards:  COMMD6  Malacards:  COMMD6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IBA	biological process
GO:0051059	NF-kappaB binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0051059	NF-kappaB binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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