Aliases for PSTPIP2 Gene

Aliases for PSTPIP2 Gene

  • Proline-Serine-Threonine Phosphatase Interacting Protein 2 2 3 5
  • Proline-Serine-Threonine Phosphatase-Interacting Protein 2 3 4
  • PEST Phosphatase-Interacting Protein 2 3 4
  • MAYP 3

External Ids for PSTPIP2 Gene

Previous GeneCards Identifiers for PSTPIP2 Gene

  • GC18M043875
  • GC18M043350
  • GC18M043451
  • GC18M041815
  • GC18M041817
  • GC18M043563
  • GC18M040420

Summaries for PSTPIP2 Gene

GeneCards Summary for PSTPIP2 Gene

PSTPIP2 (Proline-Serine-Threonine Phosphatase Interacting Protein 2) is a Protein Coding gene. Diseases associated with PSTPIP2 include Sapho Syndrome and Chronic Recurrent Multifocal Osteomyelitis. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is PSTPIP1.

UniProtKB/Swiss-Prot Summary for PSTPIP2 Gene

  • Binds to F-actin. May be involved in regulation of the actin cytoskeleton (By similarity).

Gene Wiki entry for PSTPIP2 Gene

Additional gene information for PSTPIP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSTPIP2 Gene

Genomics for PSTPIP2 Gene

GeneHancer (GH) Regulatory Elements for PSTPIP2 Gene

Promoters and enhancers for PSTPIP2 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
GH18J046068 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 506.1 +1.5 1493 4.4 NRF1 TEAD4 ZFX ZNF10 POLR2A ZNF423 ZBTB26 TARDBP TOE1 PRPF4 PSTPIP2 HAUS1 ATP5F1A piR-61945-235
GH18J046074 Promoter/Enhancer 1.1 Ensembl ENCODE dbSUPER 500.7 -1.4 -1391 0.2 CTCF RAD21 TRIM22 SMC3 ZNF654 GLIS1 RFX5 ZNF660 PRDM10 ARID2 PSTPIP2 ATP5F1A RNY4P37 RF00019-064
GH18J046073 Enhancer 0.8 ENCODE dbSUPER 500.7 -1.6 -1623 0.2 CTCF REST RAD21 TRIM22 SMC3 ZNF654 GLIS1 RFX5 ZNF660 FOS PSTPIP2 RNY4P37 RF00019-064
GH18J045973 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 25.9 +92.3 92296 13.6 CTCF TEAD4 REST MYC RAD21 TRIM22 SMC3 MXI1 NCOR1 DEK PSTPIP2 EPG5 RNY4P37 RF00017-2662 lnc-SIGLEC15-2
GH18J046096 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.5 -25.4 -25359 3.3 ZBTB40 EP300 SIN3A MYC NRF1 USF1 POLR2G NCOR1 PHF8 ZFX ATP5F1A NONHSAG023781.2 lnc-PSTPIP2-2 HAUS1 RNY4P37 PSTPIP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSTPIP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSTPIP2

Top Transcription factor binding sites by QIAGEN in the PSTPIP2 gene promoter:
  • CREB
  • CUTL1
  • deltaCREB
  • En-1
  • HEN1
  • Max1
  • NF-kappaB
  • NF-kappaB1
  • Pax-4a
  • POU3F2

Genomic Locations for PSTPIP2 Gene

Genomic Locations for PSTPIP2 Gene
chr18:45,983,536-46,072,297
(GRCh38/hg38)
Size:
88,762 bases
Orientation:
Minus strand
chr18:43,563,502-43,652,250
(GRCh37/hg19)
Size:
88,749 bases
Orientation:
Minus strand

Genomic View for PSTPIP2 Gene

Genes around PSTPIP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSTPIP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSTPIP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSTPIP2 Gene

Proteins for PSTPIP2 Gene

  • Protein details for PSTPIP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H939-PPIP2_HUMAN
    Recommended name:
    Proline-serine-threonine phosphatase-interacting protein 2
    Protein Accession:
    Q9H939

    Protein attributes for PSTPIP2 Gene

    Size:
    334 amino acids
    Molecular mass:
    38858 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14404.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PSTPIP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSTPIP2 Gene

Post-translational modifications for PSTPIP2 Gene

Other Protein References for PSTPIP2 Gene

No data available for DME Specific Peptides for PSTPIP2 Gene

Domains & Families for PSTPIP2 Gene

Gene Families for PSTPIP2 Gene

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

Protein Domains for PSTPIP2 Gene

Blocks:
  • Cdc15/Fes/CIP4
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PSTPIP2 Gene

GenScript: Design optimal peptide antigens:
  • Proline-serine-threonine phosphatase-interacting protein 2 (PPIP2_HUMAN)
genes like me logo Genes that share domains with PSTPIP2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PSTPIP2 Gene

Function for PSTPIP2 Gene

Molecular function for PSTPIP2 Gene

UniProtKB/Swiss-Prot Function:
Binds to F-actin. May be involved in regulation of the actin cytoskeleton (By similarity).

Phenotypes From GWAS Catalog for PSTPIP2 Gene

Gene Ontology (GO) - Molecular Function for PSTPIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0008092 cytoskeletal protein binding IBA 21873635
genes like me logo Genes that share ontologies with PSTPIP2: view
genes like me logo Genes that share phenotypes with PSTPIP2: view

Animal Model Products

CRISPR Products

miRNA for PSTPIP2 Gene

miRTarBase miRNAs that target PSTPIP2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSTPIP2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSTPIP2 Gene

Localization for PSTPIP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSTPIP2 Gene

Cytoplasm. Membrane; Peripheral membrane protein.

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 PSTPIP2 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 3
nucleus 3
cytosol 3
mitochondrion 2
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PSTPIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IBA 21873635
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PSTPIP2: view

Pathways & Interactions for PSTPIP2 Gene

PathCards logo

SuperPathways for PSTPIP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PSTPIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0016477 cell migration IEA --
genes like me logo Genes that share ontologies with PSTPIP2: view

No data available for Pathways by source and SIGNOR curated interactions for PSTPIP2 Gene

Drugs & Compounds for PSTPIP2 Gene

No Compound Related Data Available

Transcripts for PSTPIP2 Gene

mRNA/cDNA for PSTPIP2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSTPIP2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PSTPIP2 Gene

No ASD Table

Relevant External Links for PSTPIP2 Gene

GeneLoc Exon Structure for
PSTPIP2

Expression for PSTPIP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSTPIP2 Gene

mRNA differential expression in normal tissues according to GTEx for PSTPIP2 Gene

This gene is overexpressed in Whole Blood (x16.5) and Spleen (x7.5).

Protein differential expression in normal tissues from HIPED for PSTPIP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (34.1), Spleen (16.1), and Platelet (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PSTPIP2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSTPIP2

SOURCE GeneReport for Unigene cluster for PSTPIP2 Gene:

Hs.567384

Evidence on tissue expression from TISSUES for PSTPIP2 Gene

  • Blood(2.2)
genes like me logo Genes that share expression patterns with PSTPIP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSTPIP2 Gene

Orthologs for PSTPIP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PSTPIP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSTPIP2 31 30
  • 99.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PSTPIP2 31 30
  • 90.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PSTPIP2 31 30
  • 88.34 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pstpip2 17 31 30
  • 85.33 (n)
rat
(Rattus norvegicus)
Mammalia Pstpip2 30
  • 85.03 (n)
oppossum
(Monodelphis domestica)
Mammalia PSTPIP2 31
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSTPIP2 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves PSTPIP2 31 30
  • 69.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSTPIP2 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pstpip2 30
  • 65.03 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-251f6.4 30
  • 61.87 (n)
CU633857.1 31
  • 57 (a)
OneToMany
PSTPIP2 (1 of 2) 31
  • 56 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 25 (a)
OneToMany
Species where no ortholog for PSTPIP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PSTPIP2 Gene

ENSEMBL:
Gene Tree for PSTPIP2 (if available)
TreeFam:
Gene Tree for PSTPIP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PSTPIP2: view image

Paralogs for PSTPIP2 Gene

Paralogs for PSTPIP2 Gene

(2) SIMAP similar genes for PSTPIP2 Gene using alignment to 1 proteins:

  • PPIP2_HUMAN
genes like me logo Genes that share paralogs with PSTPIP2: view

Variants for PSTPIP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSTPIP2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs16978507 - p.Asn322Ser
rs2276199 - p.Asn322Asp

Additional dbSNP identifiers (rs#s) for PSTPIP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PSTPIP2 Gene

Variant ID Type Subtype PubMed ID
esv2717027 CNV deletion 23290073
esv2717030 CNV deletion 23290073
esv3642418 CNV gain 21293372
esv3642419 CNV loss 21293372
esv3642420 CNV gain 21293372
esv3642421 CNV loss 21293372
esv3642422 CNV gain 21293372
nsv2277 CNV deletion 18451855
nsv477286 CNV novel sequence insertion 20440878

Variation tolerance for PSTPIP2 Gene

Residual Variation Intolerance Score: 38.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.56; 82.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSTPIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSTPIP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSTPIP2 Gene

Disorders for PSTPIP2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PSTPIP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
sapho syndrome
  • synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
chronic recurrent multifocal osteomyelitis
  • crmo
erysipeloid
  • infection due to erysipelothrix rhusiopathiae
pustulosis of palm and sole
  • generalized pustular psoriasis
sebaceous gland disease
  • sebaceous gland anomaly
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PSTPIP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PSTPIP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSTPIP2 Gene

Publications for PSTPIP2 Gene

  1. Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes. (PMID: 20032092) Hurtado-Nedelec M … Gérard B (The Journal of rheumatology 2010) 3 41 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. PSTPIP 2, a second tyrosine phosphorylated, cytoskeletal-associated protein that binds a PEST-type protein-tyrosine phosphatase. (PMID: 9804817) Wu Y … Lasky LA (The Journal of biological chemistry 1998) 2 3 54
  5. LuTHy: a double-readout bioluminescence-based two-hybrid technology for quantitative mapping of protein-protein interactions in mammalian cells. (PMID: 29997244) Trepte P … Wanker EE (Molecular systems biology 2018) 3 54

Products for PSTPIP2 Gene

Sources for PSTPIP2 Gene