• Gene id: 8495

Gene Summary

• Gene Symbol: PPFIBP2   Gene   UCSC   Ensembl
• Aliases: Cclp1
• Gene name: PPFIA binding protein 2
• Alternate names: liprin-beta-2, PTPRF interacting protein, binding protein 2 (liprin beta 2), liprin beta 2, protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2,
• Gene location: 11p15.4 (7513764: 7666641)     Exons: 37     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases
• OMIM: 603142

Protein Summary

• Protein general information: Q8ND30  
  • Name: Liprin beta 2 (Protein tyrosine phosphatase receptor type f polypeptide interacting protein binding protein 2) (PTPRF interacting protein binding protein 2)
  • Length: 876  
  • Mass: 98544
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MASDASHALEAALEQMDGIIAGTKTGADLSDGTCEPGLASPASYMNPFPVLHLIEDLRLALEMLELPQERAALLS
  QIPGPTAAYIKEWFEESLSQVNHHSAASNETYQERLARLEGDKESLILQVSVLTDQVEAQGEKIRDLEVCLEGHQ
  VKLNAAEEMLQQELLSRTSLETQKLDLMTEVSELKLKLVGMEKEQREQEEKQRKAEELLQELRHLKIKVEELENE
  RNQYEWKLKATKAEVAQLQEQVALKDAEIERLHSQLSRTAALHSESHTERDQEIQRLKMGMETLLLANEDKDRRI
  EELTGLLNQYRKVKEIVMVTQGPSERTLSINEEEPEGGFSKWNATNKDPEELFKQEMPPRCSSPTVGPPPLPQKS
  LETRAQKKLSCSLEDLRSESVDKCMDGNQPFPVLEPKDSPFLAEHKYPTLPGKLSGATPNGEAAKSPPTICQPDA
  TGSSLLRLRDTESGWDDTAVVNDLSSTSSGTESGPQSPLTPDGKRNPKGIKKFWGKIRRTQSGNFYTDTLGMAEF
  RRGGLRATAGPRLSRTRDSKGQKSDANAPFAQWSTERVCAWLEDFGLAQYVIFARQWVSSGHTLLTATPQDMEKE
  LGIKHPLHRKKLVLAVKAINTKQEEKSALLDHIWVTRWLDDIGLPQYKDQFHESRVDRRMLQYLTVNDLLFLKVT
  SQLHHLSIKCAIHVLHVNKFNPHCLHRRPADESNLSPSEVVQWSNHRVMEWLRSVDLAEYAPNLRGSGVHGGLII
  LEPRFTGDTLAMLLNIPPQKTLLRRHLTTKFNALIGPEAEQEKREKMASPAYTPLTTTAKVRPRKLGFSHFGNIR
  KKKFDESTDYICPMEPSDGVSDSHRVYSGYRGLSPLDAPELDGLDQVGQIS

• Structural information:
  • Protein Domains: (558..62-)
    (/note="SAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (630..69-)
    (/note="SAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (718..78-)
    (/note="SAM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR042180  IPR029515  IPR037617  IPR037618  IPR037619   IPR030435  IPR001660  IPR013761  
  • Prosite: PS50105
  • CDD: cd09563 cd09566 cd09569
  • PDB: 3QH9
  • PDBsum: 3QH9
  • DIP: 42373
  • STRING: ENSP00000299492
• Other Databases: GeneCards:  PPFIBP2  Malacards:  PPFIBP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048786	presynaptic active zone	IBA	cellular component
GO:0050808	synapse organization	IBA	biological process
GO:0007528	neuromuscular junction development	IBA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098793	presynapse	IEA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq