• Gene id: 29990

Gene Summary

• Gene Symbol: PILRB   Gene   UCSC   Ensembl
• Aliases: FDFACT1, FDFACT2
• Gene name: paired immunoglobin like type 2 receptor beta
• Alternate names: paired immunoglobulin-like type 2 receptor beta, activating receptor PILR-beta, activating receptor PILRbeta, cell surface receptor FDFACT, cell surface receptor FDFACT1, cell surface receptor FDFACT2, paired immunoglobin-like receptor beta, paired immunoglobuli,
• Gene location: 7q22.1 (36389808: 36453790)     Exons: 25     NC_000007.14
• Gene summary(Entrez): The paired immunoglobin-like type 2 receptors consist of highly related activating and inhibitory receptors that are involved in the regulation of many aspects of the immune system. The paired immunoglobulin-like receptor genes are located in a tandem hea
• OMIM: 605342

Protein Summary

• Protein general information: Q9UKJ0  
  • Name: Paired immunoglobulin like type 2 receptor beta (Activating receptor PILR beta) (Cell surface receptor FDFACT)
  • Length: 227  
  • Mass: 25542
• Sequence:

  MGRPLLLPLLLLLQPPAFLQPGGSTGSGPSYLYGVTQPKHLSASMGGSVEIPFSFYYPWELAIVPNVRISWRRGH
  FHGQSFYSTRPPSIHKDYVNRLFLNWTEGQESGFLRISNLRKEDQSVYFCRVELDTRRSGRQQLQSIKGTKLTIT
  QAVTTTTTWRPSSTTTIAGLRVTESKGHSESWHLSLDTAIRVALAVAVLKTVILGLLCLLLLWWRRRKGSRAPSS
  DF

• Structural information:
  • Protein Domains: (21..14-)
    (/note="Ig-like-V-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR013106  
  • Prosite: PS50835
  • PDB: 4NFC 4NFD
  • PDBsum: 4NFC 4NFD
  • STRING: ENSP00000410764
• Other Databases: GeneCards:  PILRB  Malacards:  PILRB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042288	MHC class I protein binding	IBA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050776	regulation of immune response	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	TAS	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	NAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Spermatogenic defects	MIK: 31037746

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq