• Gene id: 83648

Gene Summary

• Gene Symbol: FAM167A   Gene   UCSC   Ensembl
• Aliases: C8orf13, D8S265, DIORA-1
• Gene name: family with sequence similarity 167 member A
• Alternate names: protein FAM167A, disordered autoimmunity 1,
• Gene location: 8p23.1 (11475908: 11421464)     Exons: 9     NC_000008.11
• OMIM: 610085

Protein Summary

• Protein general information: Q96KS9  
  • Name: Protein FAM167A
  • Length: 214  
  • Mass: 24182
  • Tissue specificity: Expressed in skin, including primary keratinocytes, spleen, kidney, leukocytes, testis, lung, small intestine and prostate. {ECO
• Sequence:

  MSVPQIHVEEVGAEEGAGAAAPPDDHLRSLKALTEKLRLETRRPSYLEWQARLEEHTWPFPRPAAEPQASLEEGE
  RGGQEPLLPLREAGQHPPSARSASQGARPLSTGKLEGFQSIDEAIAWLRKELTEMRLQDQQLARQLMRLRGDINK
  LKIEHTCRLHRRMLNDATYELEERDELADLFCDSPLASSFSLSTPLKLIGVTKMNINSRRFSLC

• Structural information:
  • Interpro: IPR024280  
  • STRING: ENSP00000284486
• Other Databases: GeneCards:  FAM167A  Malacards:  FAM167A

Gene ontology

GO accession	Term name	Evidence code	Go category
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

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq