• Gene id: 11118

Gene Summary

• Gene Symbol: BTN3A2   Gene   UCSC   Ensembl
• Aliases: BT3.2, BTF4, BTN3.2, CD277
• Gene name: butyrophilin subfamily 3 member A2
• Alternate names: butyrophilin subfamily 3 member A2, butyrophilin protein,
• Gene location: 6p22.2 (26365158: 26378319)     Exons: 20     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in
• OMIM: 613594

Protein Summary

• Protein general information: P78410  
  • Name: Butyrophilin subfamily 3 member A2
  • Length: 334  
  • Mass: 36428
  • Tissue specificity: Detected in T-cells and natural killer cells. {ECO
• Sequence:

  MKMASSLAFLLLNFHVSLLLVQLLTPCSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSAETMELKWVSSSLRQV
  VNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAALGSNL
  HVEVKGYEDGGIHLECRSTGWYPQPQIQWSNAKGENIPAVEAPVVADGVGLYEVAASVIMRGGSGEGVSCIIRNS
  LLGLEKTASISIADPFFRSAQPWIAALAGTLPILLLLLAGASYFLWRQQKEITALSSEIESEQEMKEMGYAATER
  EISLRESLQEELKRKKIQYLTRGEESSSDTNKSA

• Structural information:
  • Protein Domains: (30..13-)
    (/note="Ig-like-V-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR013106  
  • Prosite: PS50835
  • PDB: 4F8Q
  • PDBsum: 4F8Q
  • STRING: ENSP00000348751
• Other Databases: GeneCards:  BTN3A2  Malacards:  BTN3A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050776	regulation of immune response	IBA	biological process
GO:0001817	regulation of cytokine production	IBA	biological process
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0072643	interferon-gamma secretion	IMP	biological process
GO:0002456	T cell mediated immunity	IMP	biological process
GO:0002376	immune system process	IEA	biological process
GO:0002250	adaptive immune response	IEA	biological process
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	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
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)