• Gene id: 140836

Gene Summary

• Gene Symbol: BANF2   Gene   UCSC   Ensembl
• Aliases: BAF-L, BAF2, BAFL, C20orf179
• Gene name: BANF family member 2
• Alternate names: barrier-to-autointegration factor-like protein, barrier to autointegration factor 2, testis secretory sperm-binding protein Li 212a,
• Gene location: 20p12.1 (17693674: 17735871)     Exons: 10     NC_000020.11

Protein Summary

• Protein general information: Q9H503  
  • Name: Barrier to autointegration factor like protein (BAF L) (Barrier to autointegration factor 2)
  • Length: 90  
  • Mass: 10309
  • Tissue specificity: Expressed strongly in testis and pancreas. Also detected in brain, colon, liver, lung, ovary, placenta, prostate, small intestine, spleen and thymus. Not detected in heart, kidney and skeletal muscle.
• Sequence:

  MDNMSPRLRAFLSEPIGEKDVCWVDGISHELAINLVTKGINKAYILLGQFLLMHKNEAEFQRWLICCFGATECEA
  QQTSHCLKEWCACFL

• Structural information:
  • Interpro: IPR004122  IPR036617  
  • STRING: ENSP00000439128
• Other Databases: GeneCards:  BANF2  Malacards:  BANF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IBA	molecular function
GO:0007059	chromosome segregation	IBA	biological process
GO:0005654	nucleoplasm	IBA	cellular component
GO:0030261	chromosome condensation	IBA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq