• Gene id: 192286

Gene Summary

• Gene Symbol: HIGD2A   Gene   UCSC   Ensembl
• Aliases: RCF1b
• Gene name: HIG1 hypoxia inducible domain family member 2A
• Alternate names: HIG1 domain family member 2A, mitochondrial, HIG1 domain family, member 2A, RCF1 homolog B,
• Gene location: 5q35.2 (176388750: 176389760)     Exons: 16     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a subunit of the cytochrome c oxidase complex (complex IV), which is the terminal enzyme in the mitochondrial respiratory chain. The encoded protein is an inner mitochondrial membrane protein and is a functional ortholo

Protein Summary

• Protein general information: Q9BW72  
  • Name: HIG1 domain family member 2A, mitochondrial (RCF1 homolog B) (RCF1b)
  • Length: 106  
  • Mass: 11529
• Sequence:

  MATPGPVIPEVPFEPSKPPVIEGLSPTVYRNPESFKEKFVRKTRENPVVPIGCLATAAALTYGLYSFHRGNSQRS
  QLMMRTRIAAQGFTVAAILLGLAVTAMKSRP

• Structural information:
  • Protein Domains: (20..10-)
    (/note="HIG1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00836"-)
  • Interpro: IPR007667  
  • Prosite: PS51503
  • STRING: ENSP00000274787
• Other Databases: GeneCards:  HIGD2A  Malacards:  HIGD2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0097250	mitochondrial respirasome assembly	IBA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component

Diseases

Associated diseases	References
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)