• Gene id: 10384

Gene Summary

• Gene Symbol: BTN3A3   Gene   UCSC   Ensembl
• Aliases: BTF3, BTN3.3
• Gene name: butyrophilin subfamily 3 member A3
• Alternate names: butyrophilin subfamily 3 member A3, butyrophilin 3, butyrophilin subfamily 3 member A3 secreted isoform,
• Gene location: 6p22.2 (26440503: 26453414)     Exons: 11     NC_000006.12
• Gene summary(Entrez): The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of hum
• OMIM: 611435

Protein Summary

• Protein general information: O00478  
  • Name: Butyrophilin subfamily 3 member A3
  • Length: 584  
  • Mass: 65002
  • Tissue specificity: Detected in peripheral blood mononuclear cells and in T-cells (at protein level). Detected in spleen and lymphocytes. {ECO
• Sequence:

  MKMASSLAFLLLNFHVSLFLVQLLTPCSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSAETMELRWVSSSLRQV
  VNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAALGSDL
  HIEVKGYEDGGIHLECRSTGWYPQPQIKWSDTKGENIPAVEAPVVADGVGLYAVAASVIMRGSSGGGVSCIIRNS
  LLGLEKTASISIADPFFRSAQPWIAALAGTLPISLLLLAGASYFLWRQQKEKIALSRETEREREMKEMGYAATEQ
  EISLREKLQEELKWRKIQYMARGEKSLAYHEWKMALFKPADVILDPDTANAILLVSEDQRSVQRAEEPRDLPDNP
  ERFEWRYCVLGCENFTSGRHYWEVEVGDRKEWHIGVCSKNVERKKGWVKMTPENGYWTMGLTDGNKYRALTEPRT
  NLKLPEPPRKVGIFLDYETGEISFYNATDGSHIYTFPHASFSEPLYPVFRILTLEPTALTICPIPKEVESSPDPD
  LVPDHSLETPLTPGLANESGEPQAEVTSLLLPAHPGAEVSPSATTNQNHKLQARTEALY

• Structural information:
  • Protein Domains: (30..13-)
    1 (/note="Ig-like-V-type)
    (145..23-)
    2 (/note="Ig-like-V-type)
    (322..51-)
    (/note="B30.2/SPRY-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00548"-)
  • Interpro: IPR001870  IPR003879  IPR013320  IPR007110  IPR036179   IPR013783  IPR003599  IPR013106  IPR006574  IPR003877  IPR037954  
  • Prosite: PS50188 PS50835
  • CDD: cd15820
  • PDB: 4F8T 5ZZ3 6J0G 6J0K 6J0L
  • PDBsum: 4F8T 5ZZ3 6J0G 6J0K 6J0L
  • STRING: ENSP00000244519
• Other Databases: GeneCards:  BTN3A3  Malacards:  BTN3A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001817	regulation of cytokine production	IBA	biological process
GO:0050776	regulation of immune response	IBA	biological process
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0002456	T cell mediated immunity	IMP	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0001817	regulation of cytokine production	IBA	biological process
GO:0050776	regulation of immune response	IBA	biological process
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0002456	T cell mediated immunity	IMP	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881