• Gene id: 84281

Gene Summary

• Gene Symbol: C2orf88   Gene   UCSC   Ensembl
• Aliases: smAKAP
• Gene name: chromosome 2 open reading frame 88
• Alternate names: small membrane A-kinase anchor protein, small A-kinase anchoring protein, small membrane AKAP,
• Gene location: 2q32.2 (189879478: 190203483)     Exons: 26     NC_000002.12
• OMIM: 615117

Protein Summary

• Protein general information: Q9BSF0  
  • Name: Small membrane A kinase anchor protein (Small membrane AKAP) (smAKAP)
  • Length: 95  
  • Mass: 10970
  • Tissue specificity: Expressed in heart (at protein level). {ECO
• Sequence:

  MGCMKSKQTFPFPTIYEGEKQHESEEPFMPEERCLPRMASPVNVKEEVKEPPGTNTVILEYAHRLSQDILCDALQ
  QWACNNIKYHDIPYIESEGP

• Structural information:
  • Interpro: IPR027969  
  • PDB: 5HVZ
  • PDBsum: 5HVZ
  • STRING: ENSP00000345107
• Other Databases: GeneCards:  C2orf88  Malacards:  C2orf88

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034237	protein kinase A regulatory subunit binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
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:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R