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 structur... See more...

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
  • Liprin-Alpha-2 3 4
  • Protein Tyrosine Phosphatase Receptor Type F Polypeptide-Interacting Protein Alpha-2 4
  • PTPRF-Interacting Protein Alpha-2 4
  • 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. Gene Ontology (GO) annotations related to this gene include nucleotide binding. An important paralog of this gene is PPFIA1.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for PPFIA2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPFIA2 Gene

Genomics for PPFIA2 Gene

GeneHancer (GH) Regulatory Elements for PPFIA2 Gene

Promoters and enhancers for PPFIA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J081758 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 768 +0.8 752 2.4 GLIS2 ZIC2 PRDM10 CTBP1 POLR2A ZNF692 ZBTB20 ZBTB48 RFX1 HIC1 PPFIA2 lnc-CCDC59-6
GH12J082357 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 -598.9 -598948 3.4 SIN3A ZNF24 ZBTB40 SP1 CTCF SIX5 LCORL FOXA1 MLX RBPJ CCDC59 METTL25 lnc-PPFIA2-5 piR-58846 ENSG00000257875 PPFIA2 ENSG00000257431
GH12J081810 Enhancer 0.9 FANTOM5 Ensembl 14.8 -51.3 -51347 2.2 ZNF24 ETV6 MAFK IKZF1 BACH1 TRIM22 IKZF2 NFE2L2 NFE2 DPF2 lnc-METTL25-6 PPFIA2 VN1R57P lnc-METTL25-4 ENSG00000257609
GH12J081800 Enhancer 0.5 Ensembl ENCODE 13.9 -41.4 -41448 1.6 RXRA NR2F2 PPFIA2 lnc-METTL25-6 piR-55110-030
GH12J081381 Enhancer 0.7 dbSUPER 8.3 +376.9 376948 1.2 GATA3 SREBF1 TCF7L2 ZNF217 MTA3 NCOA3 CREB1 GATAD2B TARDBP CTBP1 METTL25 PPFIA2 ENSG00000258162 piR-48749-007
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPFIA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPFIA2 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • ATF6
  • CREB
  • deltaCREB
  • LCR-F1
  • Nkx2-5
  • ZIC2

Genomic Locations for PPFIA2 Gene

Genomic Locations for PPFIA2 Gene
chr12:81,257,975-81,759,553
(GRCh38/hg38)
Size:
501,579 bases
Orientation:
Minus strand
chr12:81,652,045-82,153,332
(GRCh37/hg19)
Size:
501,288 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PPFIA2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ41378 fis, clone BRCAN2009203, highly similar to Liprin-alpha-2 (B3KVT5_HUMAN)
  • cDNA FLJ45024 fis, clone BRAWH3017259, highly similar to Liprin-alpha-2 (B3KXA0_HUMAN)
  • cDNA FLJ54011, highly similar to Liprin-alpha-2 (B7Z3U9_HUMAN)
  • cDNA FLJ53184, highly similar to Liprin-alpha-2 (B7Z663_HUMAN)
  • Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-2 (LIPA2_HUMAN)

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.

Phenotypes From GWAS Catalog for PPFIA2 Gene

Gene Ontology (GO) - Molecular Function for PPFIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12923177
GO:0099181 structural constituent of presynapse IEA --
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:
  • Ppfia2 Ppfia2<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR 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
cytosol 4
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PPFIA2 Gene

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 --
GO:0099172 presynapse organization IEA --
GO:2000300 regulation of synaptic vesicle exocytosis IEA --
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

CRISPR Products

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, 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

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 33
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPFIA2 33 32
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPFIA2 33 32
  • 94.03 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPFIA2 33
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppfia2 17 33 32
  • 90.51 (n)
rat
(Rattus norvegicus)
Mammalia Ppfia2 32
  • 90.25 (n)
oppossum
(Monodelphis domestica)
Mammalia PPFIA2 33
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPFIA2 33 32
  • 83.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPFIA2 33
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppfia2 32
  • 80.37 (n)
zebrafish
(Danio rerio)
Actinopterygii ppfia2 33 32
  • 72.89 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001469 32
  • 56.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta Liprin-alpha 33 32
  • 53.99 (n)
OneToMany
CG11206 34
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea syd-2 33 34 32
  • 53.89 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CNM67 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 51 (a)
OneToMany
Cin.7184 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7184 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for PPFIA2: view image

Paralogs for PPFIA2 Gene

Paralogs for PPFIA2 Gene

(6) SIMAP similar genes for PPFIA2 Gene using alignment to 12 proteins:

  • LIPA2_HUMAN
  • F8VU88_HUMAN
  • F8VWG6_HUMAN
  • F8VWR9_HUMAN
  • F8VYK7_HUMAN
  • F8W1Y8_HUMAN
  • G3V200_HUMAN
  • H0YH95_HUMAN
  • H0YHJ4_HUMAN
  • H0YHK3_HUMAN
  • H0YIJ4_HUMAN
  • J3KNM3_HUMAN
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 Variation AA Info Type
rs1000006885 -- 81,465,717(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000011712 -- 81,627,197(-) T/C/G genic_upstream_transcript_variant, intron_variant
rs1000012493 -- 81,424,810(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000016981 -- 81,758,770(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000027941 -- 81,276,866(-) T/C genic_downstream_transcript_variant, 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)

Additional Variant Information 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

Additional Disease Information for PPFIA2

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

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-Pagès C … Streuli M (The Journal of biological chemistry 1998) 2 3 4 56
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  3. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3 56
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 56
  5. Systematic Analysis of Human Protein Phosphatase Interactions and Dynamics. (PMID: 28330616) Yadav L … Varjosalo M (Cell systems 2017) 3 56

Products for PPFIA2 Gene

Sources for PPFIA2 Gene