• Gene id: 116224

Gene Summary

• Gene Symbol: FAM122A   Gene   UCSC   Ensembl
• Aliases: C9orf42
• Gene name: family with sequence similarity 122A
• Alternate names: protein FAM122A,
• Gene location: 9q21.11 (68780064: 68785565)     Exons: 1     NC_000009.12
• OMIM: 617249

Protein Summary

• Protein general information: Q96E09  
  • Name: Protein FAM122A
  • Length: 287  
  • Mass: 30529
• Sequence:

  MAQEKMELDLELPPGTGGSPAEGGGSGGGGGLRRSNSAPLIHGLSDTSPVFQAEAPSARRNSTTFPSRHGLLLPA
  SPVRMHSSRLHQIKQEEGMDLINRETVHEREVQTAMQISHSWEESFSLSDNDVEKSASPKRIDFIPVSPAPSPTR
  GIGKQCFSPSLQSFVSSNGLPPSPIPSPTTRFTTRRSQSPINCIRPSVLGPLKRKCEMETEYQPKRFFQGITNML
  SSDVAQLSDPGVCVSSDTLDGNSSSAGSSCNSPAKVSTTTDSPVSPAQAASPFIPLDELSSK

• Structural information:
  • Interpro: IPR026716  
  • STRING: ENSP00000377807
• Other Databases: GeneCards:  FAM122A  Malacards:  FAM122A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0004865	protein serine/threonine phosphatase inhibitor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process

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