• Gene id: 151888

Gene Summary

• Gene Symbol: BTLA   Gene   UCSC   Ensembl
• Aliases: BTLA1, CD272
• Gene name: B and T lymphocyte associated
• Alternate names: B- and T-lymphocyte attenuator, B- and T-lymphocyte-associated protein,
• Gene location: 3q13.2 (124676302: 124633112)     Exons: 14     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple trans
• OMIM: 607925

Protein Summary

• Protein general information: Q7Z6A9  
  • Name: B and T lymphocyte attenuator (B and T lymphocyte associated protein) (CD antigen CD272)
  • Length: 289  
  • Mass: 32834
• Sequence:

  MKTLPAMLGTGKLFWVFFLIPYLDIWNIHGKESCDVQLYIKRQSEHSILAGDPFELECPVKYCANRPHVTWCKLN
  GTTCVKLEDRQTSWKEEKNISFFILHFEPVLPNDNGSYRCSANFQSNLIESHSTTLYVTDVKSASERPSKDEMAS
  RPWLLYRLLPLGGLPLLITTCFCLFCCLRRHQGKQNELSDTAGREINLVDAHLKSEQTEASTRQNSQVLLSETGI
  YDNDPDLCFRMQEGSEVYSNPCLEENKPGIVYASLNHSVIGPNSRLARNVKEAPTEYASICVRS

• Structural information:
  • Protein Domains: (31..13-)
    (/note="Ig-like-V-type")
  • Interpro: IPR039257  IPR007110  IPR036179  IPR013783  IPR003599   IPR013151  
  • Prosite: PS50835
  • PDB: 2AW2 6NYP
  • PDBsum: 2AW2 6NYP
  • DIP: 48795
  • STRING: ENSP00000333919
• Other Databases: GeneCards:  BTLA  Malacards:  BTLA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0002768	immune response-regulating cell surface receptor signaling pathway	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0002768	immune response-regulating cell surface receptor signaling pathway	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
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:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0031295	T cell costimulation	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray