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Aliases for PPFIA2 Gene

Aliases for PPFIA2 Gene

  • PTPRF Interacting Protein Alpha 2 2 3 5
  • Protein Tyrosine Phosphatase, Receptor Type, F Polypeptide (PTPRF), Interacting Protein (Liprin), Alpha 2 2 3
  • Protein Tyrosine Phosphatase Receptor Type F Polypeptide-Interacting Protein Alpha-2 4
  • PTPRF-Interacting Protein Alpha-2 4
  • Liprin-Alpha-2 3
  • Liprin-Alpha2 2

External Ids for PPFIA2 Gene

Previous GeneCards Identifiers for PPFIA2 Gene

  • GC12M084491
  • GC12M082017
  • GC12M081584
  • GC12M080155
  • GC12M078710

Summaries for PPFIA2 Gene

Entrez Gene Summary for PPFIA2 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 guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for PPFIA2 Gene

PPFIA2 (PTPRF Interacting Protein Alpha 2) is a Protein Coding gene. Among its related pathways are Neurotransmitter Release Cycle and Transmission across Chemical Synapses. GO annotations related to this gene include nucleotide binding and protein complex binding. An important paralog of this gene is PPFIA1.

UniProtKB/Swiss-Prot for PPFIA2 Gene

  • 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 interaction with the extracellular environment and their association with substrates.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPFIA2 Gene

Genomics for PPFIA2 Gene

Regulatory Elements for PPFIA2 Gene

Enhancers for PPFIA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G081810 0.8 FANTOM5 14.8 -50.8 -50842 0.4 BACH1 BMI1 EBF1 ETV6 RELB IKZF2 MTA2 BHLHE40 JUNB TRIM22 PPFIA2 VN1R57P
GH12G081759 0.6 ENCODE 18.1 +0.2 237 0.2 ZNF263 MXI1 SP3 L3MBTL2 SUZ12 EP300 GLIS2 PRDM10 ZBTB26 ZBTB20 PPFIA2 ENSG00000258375
GH12G081381 0.8 dbSUPER 8.3 +376.9 376949 1.2 SOX13 PKNOX1 ESRRA FOXA2 NFIB BMI1 RAD21 MTA3 CTBP1 GATA3 PPFIA2 ENSG00000258162 GC12P081435
GH12G081942 1.3 FANTOM5 Ensembl ENCODE 4.8 -183.1 -183068 0.8 CTCF PKNOX1 MTA2 TRIM22 BMI1 GATAD2B DPF2 TBX21 EP300 TARDBP PPFIA2 CCDC59 LINC02426 VN1R57P
GH12G081811 0.4 FANTOM5 13.8 -51.7 -51719 0.2 CEBPB PPFIA2 VN1R57P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPFIA2 on UCSC Golden Path with GeneCards custom track

Promoters for PPFIA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000054622 553 801 MXI1 SUZ12 ZIC2 GLIS2 POLR2A ZBTB48 ZNF600 PRDM10 EZH2 ZNF263

Genomic Location for PPFIA2 Gene

Chromosome:
12
Start:
81,257,975 bp from pter
End:
81,759,553 bp from pter
Size:
501,579 bases
Orientation:
Minus strand

Genomic View for PPFIA2 Gene

Genes around PPFIA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPFIA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPFIA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPFIA2 Gene

Proteins for PPFIA2 Gene

  • Protein details for PPFIA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75334-LIPA2_HUMAN
    Recommended name:
    Liprin-alpha-2
    Protein Accession:
    O75334
    Secondary Accessions:
    • B3KVT5
    • B3KXA0
    • B7Z2A6
    • B7Z3U9
    • B7Z663
    • B7ZKZ5
    • E7ERB8
    • E7ETG6
    • F8VP68
    • Q2M3G8

    Protein attributes for PPFIA2 Gene

    Size:
    1257 amino acids
    Molecular mass:
    143291 Da
    Quaternary structure:
    • Forms homodimers and heterodimers with liprins-alpha and liprins-beta. Interacts with the second PTPase domain of PTPRD, PTPRF and PTPRS.

    Three dimensional structures from OCA and Proteopedia for PPFIA2 Gene

    Alternative splice isoforms for PPFIA2 Gene

neXtProt entry for PPFIA2 Gene

Post-translational modifications for PPFIA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPFIA2 Gene

Domains & Families for PPFIA2 Gene

Gene Families for PPFIA2 Gene

Protein Domains for PPFIA2 Gene

Graphical View of Domain Structure for InterPro Entry

O75334

UniProtKB/Swiss-Prot:

LIPA2_HUMAN :
  • The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type alpha/alpha. The C-terminal, non-coiled coil regions mediate heterodimerization type alpha/beta and interaction with PTPRD, PTPRF and PTPRS.
  • Belongs to the liprin family. Liprin-alpha subfamily.
Domain:
  • The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type alpha/alpha. The C-terminal, non-coiled coil regions mediate heterodimerization type alpha/beta and interaction with PTPRD, PTPRF and PTPRS.
Family:
  • Belongs to the liprin family. Liprin-alpha subfamily.
genes like me logo Genes that share domains with PPFIA2: view

Function for PPFIA2 Gene

Molecular function for PPFIA2 Gene

UniProtKB/Swiss-Prot 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 interaction with the extracellular environment and their association with substrates.

Gene Ontology (GO) - Molecular Function for PPFIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12923177
genes like me logo Genes that share ontologies with PPFIA2: view
genes like me logo Genes that share phenotypes with PPFIA2: view

Animal Models for PPFIA2 Gene

MGI Knock Outs for PPFIA2:

Animal Model Products

miRNA for PPFIA2 Gene

miRTarBase miRNAs that target PPFIA2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPFIA2 Gene

Localization for PPFIA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPFIA2 Gene

Cytoplasm. Cell surface. Note=Colocalizes with PTPRF at the cell surface.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPFIA2 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3

Gene Ontology (GO) - Cellular Components for PPFIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 9624153
GO:0005829 cytosol TAS --
GO:0009986 cell surface IEA --
GO:0045202 synapse IEA --
GO:0048786 presynaptic active zone TAS 15217342
genes like me logo Genes that share ontologies with PPFIA2: view

Pathways & Interactions for PPFIA2 Gene

genes like me logo Genes that share pathways with PPFIA2: view

Gene Ontology (GO) - Biological Process for PPFIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion TAS 9624153
GO:0007269 neurotransmitter secretion TAS --
GO:0014047 glutamate secretion TAS --
genes like me logo Genes that share ontologies with PPFIA2: view

No data available for SIGNOR curated interactions for PPFIA2 Gene

Drugs & Compounds for PPFIA2 Gene

No Compound Related Data Available

Transcripts for PPFIA2 Gene

Unigene Clusters for PPFIA2 Gene

Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPFIA2 Gene

No ASD Table

Relevant External Links for PPFIA2 Gene

GeneLoc Exon Structure for
PPFIA2
ECgene alternative splicing isoforms for
PPFIA2

Expression for PPFIA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPFIA2 Gene

mRNA differential expression in normal tissues according to GTEx for PPFIA2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.9), Brain - Anterior cingulate cortex (BA24) (x5.5), Brain - Cortex (x4.4), and Brain - Hippocampus (x4.1).

Protein differential expression in normal tissues from HIPED for PPFIA2 Gene

This gene is overexpressed in Fetal Brain (23.1), Brain (20.6), and Frontal cortex (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPFIA2 Gene



Protein tissue co-expression partners for PPFIA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPFIA2 Gene:

PPFIA2

SOURCE GeneReport for Unigene cluster for PPFIA2 Gene:

Hs.506216

mRNA Expression by UniProt/SwissProt for PPFIA2 Gene:

O75334-LIPA2_HUMAN
Tissue specificity: Expressed only in brain.

Evidence on tissue expression from TISSUES for PPFIA2 Gene

  • Nervous system(4.8)
  • Heart(4.1)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with PPFIA2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPFIA2 Gene

Orthologs for PPFIA2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PPFIA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PPFIA2 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPFIA2 34 35
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia PPFIA2 34 35
  • 94.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPFIA2 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppfia2 34 16 35
  • 90.51 (n)
rat
(Rattus norvegicus)
Mammalia Ppfia2 34
  • 90.25 (n)
oppossum
(Monodelphis domestica)
Mammalia PPFIA2 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPFIA2 34 35
  • 83.77 (n)
lizard
(Anolis carolinensis)
Reptilia PPFIA2 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppfia2 34
  • 80.37 (n)
zebrafish
(Danio rerio)
Actinopterygii ppfia2 34 35
  • 72.89 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001469 34
  • 56.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta Liprin-alpha 34 35
  • 53.99 (n)
CG11206 36
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea syd-2 36 34 35
  • 53.89 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CNM67 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7184 34
Species where no ortholog for PPFIA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPFIA2 Gene

ENSEMBL:
Gene Tree for PPFIA2 (if available)
TreeFam:
Gene Tree for PPFIA2 (if available)

Paralogs for PPFIA2 Gene

Paralogs for PPFIA2 Gene

genes like me logo Genes that share paralogs with PPFIA2: view

Variants for PPFIA2 Gene

Sequence variations from dbSNP and Humsavar for PPFIA2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000006885 -- 81,465,717(+) TTTCT(A/G)GAACC intron-variant
rs1000011712 -- 81,627,197(+) GATAA(G/T)AGGAA intron-variant
rs1000012493 -- 81,424,810(+) TGACA(A/G)GCACT intron-variant
rs1000016981 -- 81,758,770(+) CGCAG(C/T)TCCCC intron-variant, upstream-variant-2KB
rs1000027941 -- 81,276,866(+) CCATA(C/T)AATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPFIA2 Gene

Variant ID Type Subtype PubMed ID
dgv2729n54 CNV loss 21841781
dgv2730n54 CNV loss 21841781
dgv2731n54 CNV loss 21841781
dgv2732n54 CNV loss 21841781
dgv2733n54 CNV loss 21841781
dgv2734n54 CNV loss 21841781
dgv2735n54 CNV loss 21841781
dgv2736n54 CNV gain+loss 21841781
dgv2737n54 CNV loss 21841781
dgv2738n54 CNV loss 21841781
dgv2739n54 CNV loss 21841781
dgv2740n54 CNV loss 21841781
dgv2741n54 CNV loss 21841781
dgv298n67 CNV loss 20364138
dgv299n67 CNV loss 20364138
esv1228005 CNV insertion 17803354
esv1408686 CNV insertion 17803354
esv2496739 CNV loss 19546169
esv24976 CNV loss 19812545
esv2660013 CNV deletion 23128226
esv2667992 CNV deletion 23128226
esv2669190 CNV deletion 23128226
esv2673338 CNV deletion 23128226
esv2674428 CNV deletion 23128226
esv2677852 CNV deletion 23128226
esv2746120 CNV deletion 23290073
esv2746121 CNV deletion 23290073
esv2776 CNV loss 18987735
esv3549480 CNV deletion 23714750
esv3549481 CNV deletion 23714750
esv3580351 CNV loss 25503493
esv3580352 CNV loss 25503493
esv3580353 CNV loss 25503493
esv3580354 CNV loss 25503493
esv3630133 CNV gain 21293372
esv3630137 CNV loss 21293372
esv3630138 CNV loss 21293372
esv3630139 CNV loss 21293372
esv3630140 CNV loss 21293372
esv3630141 CNV loss 21293372
esv3630142 CNV loss 21293372
esv3892232 CNV loss 25118596
esv9497 CNV loss 19470904
nsv1069681 CNV deletion 25765185
nsv1113495 CNV deletion 24896259
nsv1134245 CNV deletion 24896259
nsv1136038 CNV deletion 24896259
nsv1143703 CNV deletion 24896259
nsv470308 CNV gain 18288195
nsv478186 CNV novel sequence insertion 20440878
nsv498797 CNV loss 21111241
nsv498798 CNV loss 21111241
nsv511491 CNV loss 21212237
nsv512285 CNV loss 21212237
nsv514675 CNV loss 21397061
nsv521788 CNV loss 19592680
nsv53023 CNV insertion 16902084
nsv559466 CNV loss 21841781
nsv559468 CNV loss 21841781
nsv559489 CNV loss 21841781
nsv559526 CNV gain+loss 21841781
nsv559537 CNV loss 21841781
nsv790 CNV deletion 18451855
nsv820229 CNV gain 19587683
nsv826452 CNV loss 20364138
nsv975653 CNV deletion 23825009

Variation tolerance for PPFIA2 Gene

Residual Variation Intolerance Score: 4.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.31; 53.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPFIA2 Gene

Human Gene Mutation Database (HGMD)
PPFIA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPFIA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPFIA2 Gene

Disorders for PPFIA2 Gene

Relevant External Links for PPFIA2

Genetic Association Database (GAD)
PPFIA2
Human Genome Epidemiology (HuGE) Navigator
PPFIA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPFIA2

No disorders were found for PPFIA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPFIA2 Gene

Publications for PPFIA2 Gene

  1. Liprins, a family of LAR transmembrane protein-tyrosine phosphatase- interacting proteins. (PMID: 9624153) Serra-Pages C. … Streuli M. (J. Biol. Chem. 1998) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements. (PMID: 26740234) Uehara D.T. … Inazawa J. (J. Hum. Genet. 2016) 3 64
  4. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld C.A. … Koellinger P.D. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3 64
  5. Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci. (PMID: 25352737) Ritchie M.D. … McCarty C.A. (Mol. Vis. 2014) 3 64

Products for PPFIA2 Gene

Sources for PPFIA2 Gene

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