• Gene id: 154215

Gene Summary

• Gene Symbol: NKAIN2   Gene   UCSC   Ensembl
• Aliases: FAM77B, NKAIP2, TCBA, TCBA1
• Gene name: sodium/potassium transporting ATPase interacting 2
• Alternate names: sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2, Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 2, Na+/K+ transporting ATPase interacting 2, T-cell lymphoma breakpoint-associated target protein 1,
• Gene location: 6q22.31 (123803841: 124825651)     Exons: 9     NC_000006.12
• Gene summary(Entrez): This gene encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants
• OMIM: 609758

Protein Summary

• Protein general information: Q5VXU1  
  • Name: Sodium/potassium transporting ATPase subunit beta 1 interacting protein 2 (Na(+)/K(+) transporting ATPase subunit beta 1 interacting protein 2) (Protein FAM77B) (T cell lymphoma breakpoint associated target protein 1)
  • Length: 208  
  • Mass: 23831
  • Tissue specificity: Expressed in fetal brain. Weakly expressed in adult brain and thymus. Not expressed in any other normal tissue examined. {ECO
• Sequence:

  MGYCSGRCTLIFICGMQLVCVLERQIFDFLGYQWAPILANFVHIIIVILGLFGTIQYRPRYITGYAVWLVLWVTW
  NVFVICFYLEAGDLSKETDLILTFNISMHRSWWMENGPGCTVTSVTPAPDWAPEDHRYITVSGCLLEYQYIEVAH
  SSLQIVLALAGFIYACYVVKCITEEEDSFDFIGGFDSYGYQGPQKTSHLQLQPMYMSK

• Structural information:
  • Interpro: IPR008516  
  • STRING: ENSP00000357402
• Other Databases: GeneCards:  NKAIN2  Malacards:  NKAIN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002028	regulation of sodium ion transport	IBA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq