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Aliases for SH3PXD2A Gene

Aliases for SH3PXD2A Gene

  • SH3 And PX Domains 2A 2 3 5
  • Tyrosine Kinase Substrate With Five SH3 Domains 3 4
  • Five SH3 Domain-Containing Protein 3 4
  • SH3 Multiple Domains 1 2 3
  • Adapter Protein TKS5 3 4
  • SH3MD1 3 4
  • FISH 3 4
  • TKS5 3 4
  • SH3 And PX Domain-Containing Protein 2A 3
  • SH3 Multiple Domains Protein 1 4
  • Adaptor Protein TKS5 3
  • Five SH3 Domains 2
  • KIAA0418 4

External Ids for SH3PXD2A Gene

Previous HGNC Symbols for SH3PXD2A Gene

  • SH3MD1

Previous GeneCards Identifiers for SH3PXD2A Gene

  • GC10M105345
  • GC10M098984

Summaries for SH3PXD2A Gene

GeneCards Summary for SH3PXD2A Gene

SH3PXD2A (SH3 And PX Domains 2A) is a Protein Coding gene. Diseases associated with SH3PXD2A include Malignant Peripheral Nerve Sheath Tumor. Among its related pathways are Adhesion. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding. An important paralog of this gene is SH3PXD2B.

UniProtKB/Swiss-Prot for SH3PXD2A Gene

  • Adapter protein involved in invadopodia and podosome formation, extracellular matrix degradation and invasiveness of some cancer cells. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. In association with ADAM12, mediates the neurotoxic effect of amyloid-beta peptide.

Gene Wiki entry for SH3PXD2A Gene

Additional gene information for SH3PXD2A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3PXD2A Gene

Genomics for SH3PXD2A Gene

GeneHancer (GH) Regulatory Elements for SH3PXD2A Gene

Promoters and enhancers for SH3PXD2A 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
GH10I103848 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 555.7 +2.8 2761 7.6 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 FOS SP3 SH3PXD2A ENSG00000260461 STN1 CFAP43 SH3PXD2A-AS1
GH10I103694 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.6 +159.4 159448 3.2 HDGF PKNOX1 SIN3A ELK1 ZNF143 FOS ATF7 RUNX3 ZNF263 SP3 SH3PXD2A NEURL1-AS1 CALHM2 GSTO1 ENSG00000222503 GC10M103742
GH10I103644 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14 +207.8 207757 6.5 PKNOX1 ARID4B RAD21 RFX5 RARA YY1 FOS CREM RXRA CEBPB SH3PXD2A NEURL1-AS1 CALHM2 GSTO2 PIR41281 ENSG00000222503
GH10I103657 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +194.4 194402 7 HDGF PKNOX1 FOXA2 ZFP64 ARID4B DMAP1 ZNF48 ETS1 YY1 RXRA SH3PXD2A CALHM2 AS3MT ENSG00000222503 PIR41281
GH10I103665 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +188.1 188088 4.8 HDAC1 RAD21 GLIS2 CBX5 EGR1 CREM EGR2 SMAD5 ZBTB2 REST PDCD11 SH3PXD2A PCGF6 SLK BORCS7 GSTO2 ENSG00000222503 PIR41281
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SH3PXD2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SH3PXD2A gene promoter:

Genomic Locations for SH3PXD2A Gene

Genomic Locations for SH3PXD2A Gene
chr10:103,594,027-103,855,543
(GRCh38/hg38)
Size:
261,517 bases
Orientation:
Minus strand
chr10:105,348,285-105,615,301
(GRCh37/hg19)

Genomic View for SH3PXD2A Gene

Genes around SH3PXD2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3PXD2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3PXD2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3PXD2A Gene

Proteins for SH3PXD2A Gene

  • Protein details for SH3PXD2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TCZ1-SPD2A_HUMAN
    Recommended name:
    SH3 and PX domain-containing protein 2A
    Protein Accession:
    Q5TCZ1
    Secondary Accessions:
    • D3DR98
    • O43302
    • Q5TCZ2
    • Q5TDQ8

    Protein attributes for SH3PXD2A Gene

    Size:
    1133 amino acids
    Molecular mass:
    125289 Da
    Quaternary structure:
    • Interacts (via N-terminus) with CYBA (By similarity). Interacts with ADAM12, ADAM15 and ADAM19. Interacts with NOXO1. Interacts (via SH3 domains) with NOXA1. Interacts with FASLG.
    SequenceCaution:
    • Sequence=BAA24848.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SH3PXD2A Gene

    Alternative splice isoforms for SH3PXD2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3PXD2A Gene

Post-translational modifications for SH3PXD2A Gene

  • Tyrosine phosphorylated by SRC. Phosphorylation plays a regulatory role in the protein localization. The intramolecular interaction of the PX domain with the third SH3 domain maintains the protein in the cytoplasm and phosphorylation disrupts this interaction, resulting in the redistribution of the protein from cytoplasm to the perimembrane region. Phosphorylated on serine upon DNA damage, probably by ATM or ATR.

No data available for DME Specific Peptides for SH3PXD2A Gene

Domains & Families for SH3PXD2A Gene

Gene Families for SH3PXD2A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q5TCZ1

UniProtKB/Swiss-Prot:

SPD2A_HUMAN :
  • The PX domain is required for podosome localization because of its ability to bind phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and, to a lesser extent, phosphatidylinositol 4-phosphate (PtdIns(4)P), phosphatidylinositol 5-phosphate (PtdIns(5)P), and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Binds to the third intramolecular SH3 domain (By similarity).
  • Belongs to the SH3PXD2 family.
Domain:
  • The PX domain is required for podosome localization because of its ability to bind phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and, to a lesser extent, phosphatidylinositol 4-phosphate (PtdIns(4)P), phosphatidylinositol 5-phosphate (PtdIns(5)P), and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Binds to the third intramolecular SH3 domain (By similarity).
  • The fifth SH3 domain mediates binding with ADAM12, ADAM15 and ADAM19.
Family:
  • Belongs to the SH3PXD2 family.
genes like me logo Genes that share domains with SH3PXD2A: view

Function for SH3PXD2A Gene

Molecular function for SH3PXD2A Gene

UniProtKB/Swiss-Prot Function:
Adapter protein involved in invadopodia and podosome formation, extracellular matrix degradation and invasiveness of some cancer cells. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. In association with ADAM12, mediates the neurotoxic effect of amyloid-beta peptide.

Phenotypes From GWAS Catalog for SH3PXD2A Gene

Gene Ontology (GO) - Molecular Function for SH3PXD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16374509
GO:0016176 superoxide-generating NADPH oxidase activator activity IBA --
GO:0035091 phosphatidylinositol binding IBA --
genes like me logo Genes that share ontologies with SH3PXD2A: view
genes like me logo Genes that share phenotypes with SH3PXD2A: view

Animal Models for SH3PXD2A Gene

MGI Knock Outs for SH3PXD2A:

Animal Model Products

miRNA for SH3PXD2A Gene

miRTarBase miRNAs that target SH3PXD2A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SH3PXD2A Gene

Localization for SH3PXD2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3PXD2A Gene

Cytoplasm. Cell projection, podosome. Note=Cytoplasmic in normal cells and localizes to podosomes in SRC-transformed cells.

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 SH3PXD2A gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
extracellular 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SH3PXD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IDA 18417249
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0030054 cell junction IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with SH3PXD2A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SH3PXD2A Gene

Pathways & Interactions for SH3PXD2A Gene

SuperPathways for SH3PXD2A Gene

SuperPathway Contained pathways
1 Adhesion
genes like me logo Genes that share pathways with SH3PXD2A: view

Pathways by source for SH3PXD2A Gene

1 Cell Signaling Technology pathway for SH3PXD2A Gene

Gene Ontology (GO) - Biological Process for SH3PXD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006801 superoxide metabolic process IMP 20609497
GO:0030198 extracellular matrix organization TAS --
GO:0043085 positive regulation of catalytic activity IEA --
GO:0055114 oxidation-reduction process IBA --
GO:0071800 podosome assembly IBA --
genes like me logo Genes that share ontologies with SH3PXD2A: view

No data available for SIGNOR curated interactions for SH3PXD2A Gene

Drugs & Compounds for SH3PXD2A Gene

No Compound Related Data Available

Transcripts for SH3PXD2A Gene

Unigene Clusters for SH3PXD2A Gene

SH3 and PX domains 2A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH3PXD2A Gene

No ASD Table

Relevant External Links for SH3PXD2A Gene

GeneLoc Exon Structure for
SH3PXD2A
ECgene alternative splicing isoforms for
SH3PXD2A

Expression for SH3PXD2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SH3PXD2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SH3PXD2A Gene

This gene is overexpressed in Plasma (19.3), Esophagus (17.5), Tlymphocyte (6.3), and Adrenal (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SH3PXD2A Gene



NURSA nuclear receptor signaling pathways regulating expression of SH3PXD2A Gene:

SH3PXD2A

SOURCE GeneReport for Unigene cluster for SH3PXD2A Gene:

Hs.678727

mRNA Expression by UniProt/SwissProt for SH3PXD2A Gene:

Q5TCZ1-SPD2A_HUMAN
Tissue specificity: Found in several cancer cell lines, particularly invasive breast carcinomas and melanomas.

Evidence on tissue expression from TISSUES for SH3PXD2A Gene

  • Nervous system(4.7)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with SH3PXD2A: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3PXD2A Gene

Orthologs for SH3PXD2A Gene

This gene was present in the common ancestor of chordates.

Orthologs for SH3PXD2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH3PXD2A 33
  • 99.1 (n)
cow
(Bos Taurus)
Mammalia SH3PXD2A 33 34
  • 90.11 (n)
dog
(Canis familiaris)
Mammalia SH3PXD2A 33 34
  • 89.56 (n)
mouse
(Mus musculus)
Mammalia Sh3pxd2a 33 16 34
  • 86.89 (n)
rat
(Rattus norvegicus)
Mammalia Sh3pxd2a 33
  • 86.86 (n)
oppossum
(Monodelphis domestica)
Mammalia SH3PXD2A 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH3PXD2A 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH3PXD2A 33 34
  • 72.93 (n)
lizard
(Anolis carolinensis)
Reptilia SH3PXD2A 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3pxd2a 33
  • 66.82 (n)
zebrafish
(Danio rerio)
Actinopterygii sh3pxd2aa 33 34
  • 62.99 (n)
sh3pxd2ab 34
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
Species where no ortholog for SH3PXD2A 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 SH3PXD2A Gene

ENSEMBL:
Gene Tree for SH3PXD2A (if available)
TreeFam:
Gene Tree for SH3PXD2A (if available)

Paralogs for SH3PXD2A Gene

Variants for SH3PXD2A Gene

Sequence variations from dbSNP and Humsavar for SH3PXD2A Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000018007 -- 103,815,123(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000022506 -- 103,684,424(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000034252 -- 103,719,389(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000057761 -- 103,857,178(-) C/T upstream_transcript_variant
rs1000067259 -- 103,684,124(-) G/A/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SH3PXD2A Gene

Variant ID Type Subtype PubMed ID
nsv7530 CNV insertion 18451855
nsv552061 CNV loss 21841781
nsv524966 CNV loss 19592680
nsv522595 CNV gain 19592680
nsv518657 CNV gain 19592680
nsv516106 CNV loss 19592680
nsv477562 CNV novel sequence insertion 20440878
nsv476512 CNV novel sequence insertion 20440878
nsv475989 CNV novel sequence insertion 20440878
nsv1153005 CNV deletion 26484159
nsv1137957 CNV deletion 24896259
nsv1121820 CNV deletion 24896259
nsv1117564 CNV deletion 24896259
nsv1113337 CNV deletion 24896259
nsv1113336 CNV deletion 24896259
esv3624421 CNV loss 21293372
esv2740362 CNV deletion 23290073
esv2740350 CNV deletion 23290073
esv2740339 CNV deletion 23290073
esv2740317 CNV deletion 23290073
esv2740295 CNV deletion 23290073
esv2673767 CNV deletion 23128226
esv2114347 CNV deletion 18987734
esv2072570 CNV deletion 18987734
esv1393174 CNV deletion 17803354
esv1007127 CNV loss 20482838
dgv103e201 CNV deletion 23290073

Variation tolerance for SH3PXD2A Gene

Residual Variation Intolerance Score: 78.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.53; 71.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SH3PXD2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3PXD2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3PXD2A Gene

Disorders for SH3PXD2A Gene

MalaCards: The human disease database

(1) MalaCards diseases for SH3PXD2A Gene - From: Orphanet

Disorder Aliases PubMed IDs
malignant peripheral nerve sheath tumor
  • neurofibrosarcoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SH3PXD2A

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 SH3PXD2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SH3PXD2A Gene

Publications for SH3PXD2A Gene

  1. A study of the association between the ADAM12 and SH3PXD2A (SH3MD1) genes and Alzheimer's disease. (PMID: 19837132) Laumet G … Lambert JC (Neuroscience letters 2010) 3 22 44 58
  2. Direct interaction between Tks proteins and the N-terminal proline-rich region (PRR) of NoxA1 mediates Nox1-dependent ROS generation. (PMID: 20609497) Gianni D … Bokoch GM (European journal of cell biology 2011) 3 4 58
  3. 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 44 58
  4. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4 58
  5. Novel p47(phox)-related organizers regulate localized NADPH oxidase 1 (Nox1) activity. (PMID: 19755710) Gianni D … Bokoch GM (Science signaling 2009) 3 4 58

Products for SH3PXD2A Gene

Sources for SH3PXD2A Gene

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