PPFIA2 (PPFI scaffold protein A2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8499
Gene name Gene Name - the full gene name approved by the HGNC.
PPFI scaffold protein A2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPFIA2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT018789 hsa-miR-335-5p Microarray 18185580
MIRT1252445 hsa-miR-3121-3p CLIP-seq
MIRT1252446 hsa-miR-3688-3p CLIP-seq
MIRT1252447 hsa-miR-3978 CLIP-seq
MIRT1252448 hsa-miR-4477a CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12923177, 30021165
GO:0005737 Component Cytoplasm TAS 9624153
GO:0005829 Component Cytosol TAS
GO:0007160 Process Cell-matrix adhesion TAS 9624153
GO:0007269 Process Neurotransmitter secretion TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603143 9246 ENSG00000139220
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O75334
Protein name Liprin-alpha-2 (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-2) (PTPRF-interacting protein alpha-2)
Protein function Alters PTPRF cellular localization and induces PTPRF clustering. May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their intera
PDB 3TAC , 3TAD , 6IUH , 7D2E , 7D2G , 7D2H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00536 SAM_1 896 → 961 SAM domain (Sterile alpha motif) Domain
PF00536 SAM_1 1018 → 1082 SAM domain (Sterile alpha motif) Domain
PF07647 SAM_2 1105 → 1175 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed only in brain. {ECO:0000269|PubMed:9624153}.
Sequence 
MMCEVMPTINEDTPMSQRGSQSSGSDSDSHFEQLMVNMLDERDRLLDTLRETQESLSLAQ
QRLQDVIYDRDSLQRQLNSALPQDIESLTGGLAGSKGADPPEFAALTKELNACREQLLEK
EEEISELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPSGVSSEVEVLKALKSL
FEHHKALDEKVRERLRVSLERVSALEEELAAANQEIVALREQNVHIQRKMASSEGSTESE
HLEGMEPGQKVHEKRLSNGSIDSTDETSQIVELQELLEKQNYEMAQMKERLAALSSRVGE
VEQEAETARKDLIKTEEMNTKYQRDIREAMAQKEDMEERITTLEKRYLSAQRESTSIHDM
NDKLENELANKEAILRQMEEKNRQLQERLELAEQKLQQTMRKAETLPEVEAELAQRIAAL
TKAEERHGNIEERMRHLEGQLEEKNQELQRARQREKMNEEHNKRLSDTVDRLLTESNERL
QLHLKERMAALEEKNVLIQESETFRKNLEESLHDKERLAEEIEKLRSELDQLKMRTGSLI
EPTIPRTHLDTSAELRYSVGSLVDSQSDYRTTKVIRRPRRGRMGVRRDEPKVKSLGDHEW
NRTQQIGVLSSHPFESDTEMSDIDDDDRETIFSSMDLLSPSGHSDAQTLAMMLQEQLDAI
NKEIRLIQEEKESTELRAEEIENRVASVSLEGLNLARVHPGTSITASVTASSLASSSPPS
GHSTPKLTPRSPAREMDRMGVMTLPSDLRKHRRKIAVVEEDGREDKATIKCETSPPPTPR
ALRMTHTLPSSYHNDARSSLSVSLEPESLGLGSANSSQDSLHKAPKKKGIKSSIGRLFGK
KEKARLGQLRGFMETEAAAQESLGLGKLGTQAEKDRRLKKKHELLEEARRKGLPFAQWDG
PTVVAWLELWLGMPAWYVAACRANVKSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQE
MVSLTSPSAPPTSRTPSGNVWVTHEEMENLAAPAKTKESEEGSWAQCPVFLQTLAYGDMN
HEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRVHLKMVDSFHRTSLQYGIMC
LKRLNYDRKELERRREASQHEIKDVLVWSNDRVIRWIQAIGLREYANNILESGVHGSLIA
LDENFDYSSLALLLQIPTQNTQARQILEREYNNLLALGTERRLDESDDKNFRRGSTWRRQ
FPPREVHGISMMPGSSETLPAGFRLTTTSGQSRKMTTDVASSRLQRLDNSTVRTYSC
Sequence length 1257
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Glutamate Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Acetylcholine Neurotransmitter Release Cycle
Receptor-type tyrosine-protein phosphatases
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Schizophrenia Schizophrenia GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Associate 36137748
Myopia Associate 23422819
Pontocerebellar Hypoplasia Associate 36137748