• Gene id: 8499

Gene Summary

• Gene Symbol: PPFIA2   Gene   UCSC   Ensembl
• Gene name: PTPRF interacting protein alpha 2
• Alternate names: liprin-alpha-2, protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2,
• Gene location: 12q21.31 (81759748: 81257974)     Exons: 41     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon
• OMIM: 603143

Protein Summary

• Protein general information: O75334  
  • Name: Liprin alpha 2 (Protein tyrosine phosphatase receptor type f polypeptide interacting protein alpha 2) (PTPRF interacting protein alpha 2)
  • Length: 1257  
  • Mass: 143291
  • Tissue specificity: Expressed only in brain. {ECO
• Sequence:

  MMCEVMPTINEDTPMSQRGSQSSGSDSDSHFEQLMVNMLDERDRLLDTLRETQESLSLAQQRLQDVIYDRDSLQR
  QLNSALPQDIESLTGGLAGSKGADPPEFAALTKELNACREQLLEKEEEISELKAERNNTRLLLEHLECLVSRHER
  SLRMTVVKRQAQSPSGVSSEVEVLKALKSLFEHHKALDEKVRERLRVSLERVSALEEELAAANQEIVALREQNVH
  IQRKMASSEGSTESEHLEGMEPGQKVHEKRLSNGSIDSTDETSQIVELQELLEKQNYEMAQMKERLAALSSRVGE
  VEQEAETARKDLIKTEEMNTKYQRDIREAMAQKEDMEERITTLEKRYLSAQRESTSIHDMNDKLENELANKEAIL
  RQMEEKNRQLQERLELAEQKLQQTMRKAETLPEVEAELAQRIAALTKAEERHGNIEERMRHLEGQLEEKNQELQR
  ARQREKMNEEHNKRLSDTVDRLLTESNERLQLHLKERMAALEEKNVLIQESETFRKNLEESLHDKERLAEEIEKL
  RSELDQLKMRTGSLIEPTIPRTHLDTSAELRYSVGSLVDSQSDYRTTKVIRRPRRGRMGVRRDEPKVKSLGDHEW
  NRTQQIGVLSSHPFESDTEMSDIDDDDRETIFSSMDLLSPSGHSDAQTLAMMLQEQLDAINKEIRLIQEEKESTE
  LRAEEIENRVASVSLEGLNLARVHPGTSITASVTASSLASSSPPSGHSTPKLTPRSPAREMDRMGVMTLPSDLRK
  HRRKIAVVEEDGREDKATIKCETSPPPTPRALRMTHTLPSSYHNDARSSLSVSLEPESLGLGSANSSQDSLHKAP
  KKKGIKSSIGRLFGKKEKARLGQLRGFMETEAAAQESLGLGKLGTQAEKDRRLKKKHELLEEARRKGLPFAQWDG
  PTVVAWLELWLGMPAWYVAACRANVKSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQEMVSLTSPSAPPTSRT
  PSGNVWVTHEEMENLAAPAKTKESEEGSWAQCPVFLQTLAYGDMNHEWIGNEWLPSLGLPQYRSYFMECLVDARM
  LDHLTKKDLRVHLKMVDSFHRTSLQYGIMCLKRLNYDRKELERRREASQHEIKDVLVWSNDRVIRWIQAIGLREY
  ANNILESGVHGSLIALDENFDYSSLALLLQIPTQNTQARQILEREYNNLLALGTERRLDESDDKNFRRGSTWRRQ
  FPPREVHGISMMPGSSETLPAGFRLTTTSGQSRKMTTDVASSRLQRLDNSTVRTYSC

• Structural information:
  • Protein Domains: (898..96-)
    (/note="SAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (1020..108-)
    (/note="SAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (1108..117-)
    (/note="SAM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR029515  IPR037620  IPR037621  IPR037622  IPR030441   IPR001660  IPR013761  
  • Prosite: PS50105
  • CDD: cd09562 cd09565 cd09568
  • PDB: 3TAC 3TAD 6IUH
  • PDBsum: 3TAC 3TAD 6IUH
  • STRING: ENSP00000450337
• Other Databases: GeneCards:  PPFIA2  Malacards:  PPFIA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048786	presynaptic active zone	TAS	cellular component
GO:0050808	synapse organization	IBA	biological process
GO:0048786	presynaptic active zone	IBA	cellular component
GO:0043197	dendritic spine	IDA	cellular component
GO:0060998	regulation of dendritic spine development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0099519	dense core granule cytoskeletal transport	IMP	biological process
GO:0061001	regulation of dendritic spine morphogenesis	IMP	biological process
GO:0045202	synapse	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0007160	cell-matrix adhesion	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0014047	glutamate secretion	TAS	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099181	structural constituent of presynapse	IEA	molecular function
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0099172	presynapse organization	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray