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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SH3PXD2B Gene

protein-coding   GIFtS: 52
GCID: GC05M171693

SH3 And PX Domains 2B

(Previous name: KIAA1295)
(Previous symbol: KIAA1295)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SH3 And PX Domains 2B1 2     FAD492 3
KIAA12951 2 3 5     FTHS2 5
TKS42 3 5     HOFI2
Adapter Protein HOFI2 3     TSK42
Factor For Adipocyte Differentiation 492 3     Adaptor Protein HOFI2
Tyrosine Kinase Substrate With Four SH3 Domains2 3     SH3 And PX Domain-Containing Protein 2B2

External Ids:    HGNC: 292421   Entrez Gene: 2855902   Ensembl: ENSG000001747057   OMIM: 6132935   UniProtKB: A1X2833   

Export aliases for SH3PXD2B gene to outside databases

Previous GC identifer: GC05M166855


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SH3PXD2B Gene:
This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The
encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous
cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome. (provided by RefSeq, Sep 2010)

GeneCards Summary for SH3PXD2B Gene: 
SH3PXD2B (SH3 and PX domains 2B) is a protein-coding gene. Diseases associated with SH3PXD2B include frank ter haar syndrome, and axenfeld-rieger syndrome. GO annotations related to this gene include SH2 domain binding and phosphatidylinositol-3,5-bisphosphate binding. An important paralog of this gene is NOXO1.

UniProtKB/Swiss-Prot: SPD2B_HUMAN, A1X283
Function: Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation.
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. Plays
a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_023133.13  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SH3PXD2B gene promoter:
         Max1   AML1a   NCX/Ncx   CUTL1   HNF-4alpha1   GATA-2   GATA-1   POU2F1   POU2F1a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH3PXD2B promoter sequence
   Search SABiosciences Chromatin IP Primers for SH3PXD2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH3PXD2B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35.1   Ensembl cytogenetic band:  5q35.1   HGNC cytogenetic band: 5q35.2

SH3PXD2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3PXD2B gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M171693:  view genomic region     (about GC identifiers)

Start:
171,752,185 bp from pter      End:
171,881,527 bp from pter
Size:
129,343 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPD2B_HUMAN, A1X283 (See protein sequence)
Recommended Name: SH3 and PX domain-containing protein 2B  
Size: 911 amino acids; 101579 Da
Subunit: Interacts with ADAM15 (By similarity). Interacts with NOXO1. Interacts (via SH3 domains) with NOXA1; the
interaction is direct. Interacts with FASLG
Subcellular location: Cytoplasm (By similarity). Cell projection, podosome (By similarity). Note=Cytoplasmic in
normal cells and localizes to podosomes in SRC-transformed cells (By similarity)
Secondary accessions: B6F0V2 Q9P2Q1

Explore the universe of human proteins at neXtProt for SH3PXD2B: NX_A1X283

Explore proteomics data for SH3PXD2B at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated in SRC-transformed cells (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A1X283

  • SH3PXD2B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SH3PXD2B Protein Expression
    REFSEQ proteins: NP_001017995.1  
    ENSEMBL proteins: 
     ENSP00000430890   ENSP00000428076   ENSP00000309714  

    Human Recombinant Protein Products for SH3PXD2B: 
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    Cloud-Clone Corp. Proteins for SH3PXD2B 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002102podosome ISS--
    GO:0005737cytoplasm ISS--
    GO:0030054cell junction IEA--
    GO:0042995cell projection IEA--

    SH3PXD2B for ontologies           About GeneDecksing



    SH3PXD2B Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR011511 SH3_2
     IPR001683 Phox
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry A1X283

    ProtoNet protein and cluster: A1X283

    UniProtKB/Swiss-Prot: SPD2B_HUMAN, A1X283
    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)
    Similarity: Belongs to the SH3PXD2 family
    Similarity: Contains 1 PX (phox homology) domain
    Similarity: Contains 4 SH3 domains


    SH3PXD2B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPD2B_HUMAN, A1X283
    Function: Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation.
    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. Plays
    a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity)

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19755710
    GO:0010314phosphatidylinositol-5-phosphate binding ISS--
    GO:0032266phosphatidylinositol-3-phosphate binding ISS--
    GO:0035091phosphatidylinositol binding ----
    GO:0042169SH2 domain binding ISS--
         
    SH3PXD2B for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SH3PXD2B:
     Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sh3pxd2b):
     adipose tissue  cardiovascular system  craniofacial  growth/size  hearing/vestibular/ear 
     immune system  integument  mortality/aging  muscle  reproductive system 
     skeleton  vision/eye 

    SH3PXD2B for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SH3PXD2B 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SH3PXD2B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/16 Interacting proteins for SH3PXD2B (A1X2832, 3 ENSP000003097144) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FASLGP480233, ENSP000003566944I2D: score=1 STRING: ENSP00000356694
    SH3PXD2BA1X2832MINT-7234035
    AFAP1L1ENSP000002967214STRING: ENSP00000296721
    FERMT3ENSP000002792274STRING: ENSP00000279227
    RHOUENSP000003556524STRING: ENSP00000355652
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IMP--
    GO:0001654eye development IMP--
    GO:0006801superoxide metabolic process IDA19755710
    GO:0007154cell communication IEA--
    GO:0007507heart development IMP--

    SH3PXD2B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SH3PXD2B (SPD2B)

    Search CenterWatch for drugs/clinical trials and news about SH3PXD2B / SPD2B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SH3PXD2B gene: 
    NM_001017995.2  

    Unigene Cluster for SH3PXD2B:

    SH3 and PX domains 2B
    Hs.285666  [show with all ESTs]
    Unigene Representative Sequence: NM_001017995
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519643 ENST00000523651 ENST00000518522 ENST00000311601(uc003mbr.3 uc003mbs.1)

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    hsa-miR-100* hsa-miR-3152-3p hsa-miR-4254 hsa-miR-29a hsa-miR-9 hsa-miR-133a hsa-miR-509-3-5p hsa-miR-4300
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    Additional mRNA sequence: 

    AB037716.1 AB430862.1 AK000838.1 AK095834.1 BC016513.2 BC038561.1 BC065230.1 BC110316.1 
    DQ109556.1 

    5 DOTS entries:

    DT.211851  DT.99932385  DT.95350191  DT.97842660  DT.95273473 

    24/98 AceView cDNA sequences (see all 98):

    BC065230 BQ669074 BQ894211 BM550368 AK095834 BC038561 BQ425493 BQ673887 
    AL602545 BQ670718 BQ009220 AI018217 AA335130 AI927251 BE904385 BE388383 
    BE384280 AA316112 AW673740 AW673105 BE693628 AI804427 AK000838 BF513826 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SH3PXD2B expression in normal human tissues (normalized intensities)      SH3PXD2B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SH3PXD2B Expression
    About this image


    SH3PXD2B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Osteochondro Mesenchymal Cells Thoracic Rib
             skeleton/cranium   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Osteochondro Mesenchymal Cells Thoracic Rib
             skeleton/cranium   
     
     Smooth Muscle (Muscoskeletal System)
             Human Bronchial Smooth Muscle Cells (HBSM)   
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   
     
     Eye (Sensory Organs)
             Retina

    See SH3PXD2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SH3PXD2B

    SOURCE GeneReport for Unigene cluster: Hs.285666

    UniProtKB/Swiss-Prot: SPD2B_HUMAN, A1X283
    Tissue specificity: Expressed in fibroblasts

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SH3PXD2B gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3pxd2b1 , 5 SH3 and PX domains 2B1, 5 86.25(n)1
    88.38(a)1
      11 (18.89 cM)5
    2683961  NM_177364.31  NP_796338.21 
     323478205 
    chicken
    (Gallus gallus)
    Aves SH3PXD2B1 SH3 and PX domains 2B 73.47(n)
    74.56(a)
      427625  XM_425197.3  XP_425197.3 
    lizard
    (Anolis carolinensis)
    Reptilia SH3PXD2B6
    Uncharacterized protein
    69(a)
    1 ↔ 1
    2(123820961-123975276)
    zebrafish
    (Danio rerio)
    Actinopterygii sh3pxd2b1 SH3 and PX domains 2B 62.34(n)
    61.29(a)
      553242  XM_003200907.1  XP_003200955.1 


    ENSEMBL Gene Tree for SH3PXD2B (if available)
    TreeFam Gene Tree for SH3PXD2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SH3PXD2B gene
    NOXO12  SH3PXD2A2  NCF12  
    6 SIMAP similar genes for SH3PXD2B using alignment to 4 protein entries:     SPD2B_HUMAN (see all proteins):
    ARHGEF7    NCF1    NCF1B    SH3PXD2A    NCF1C    ITSN1

    SH3PXD2B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2990 SNPs in SH3PXD2B are shown (see all 2990)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0637644
    Frank-Ter Haar syndrome (FTHS)4--see VAR_0637642 R W mis40--------
    rs350886551,2
    C,F--166888044(+) GGGCCG/-ACTTT 1 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs2010976081,2
    --166890988(+) ATATA-/TATT  
            
    ATATA
    1 -- int10--------
    rs1895560421,2
    --166891043(+) TATATA/TTATTA 1 -- int10--------
    rs1820116841,2
    --166891166(+) TATAAA/CATATA 1 -- int10--------
    rs2009603621,2
    C--166891211(+) ATATAA/TAATAT 1 -- int10--------
    rs30571561,2
    C--166905096(+) ACACA-/CACA  
     
    /CACACA
    ATGTA
    2 -- int1 cds10--------
    rs558630001,2
    C--166909111(+) TTTTT-/TATTTT
    T
    /TTATTTT
    ATGGC
    1 -- int10--------
    rs575714261,2
    C--166918298(+) TAAGC-/A/    
       AC
    /CA
    CTCTA
    1 -- int10--------
    rs112966591,2
    C--166926011(+) GTCCAG/-CAGGA 1 -- int12Minor allele frequency- -:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for SH3PXD2B (171752185 - 171881527 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SH3PXD2B:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731097CNV Deletion23290073
    esv2651986CNV Deletion19546169
    esv274397CNV Insertion20981092
    nsv830554CNV Loss17160897


    Human Gene Mutation Database (HGMD): SH3PXD2B
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SH3PXD2B
    DNA2.0 Custom Variant and Variant Library Synthesis for SH3PXD2B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613293   
    OMIM disorders: 249420  
    UniProtKB/Swiss-Prot: SPD2B_HUMAN, A1X283
  • Frank-Ter Haar syndrome (FTHS) [MIM:249420]: A syndrome characterized by brachycephaly, wide fontanels,
    prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin,
    bowing of the long bones and flexion deformity of the fingers. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 6 diseases for SH3PXD2B:    About MalaCards
    frank ter haar syndrome    axenfeld-rieger syndrome    skeletal dysplasias    glaucoma
    obesity    colon cancer


    SH3PXD2B for disorders           About GeneDecksing

    Genetic Association Database (GAD): SH3PXD2B
    Human Genome Epidemiology (HuGE) Navigator: SH3PXD2B (2 documents)

    Export disorders for SH3PXD2B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SH3PXD2B gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with SH3PXD2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. Direct interaction between Tks proteins and the N-terminal proline- rich region (PRR) of NoxA1 mediates Nox1-dependent ROS generation. (PubMed id 20609497)1, 2 Gianni D.... Bokoch G.M. (2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Disruption of the podosome adaptor protein TKS4 (SH3P XD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Te r Haar Syndrome. (PubMed id 20137777)1, 2 Iqbal Z....van Bokhoven H. (2010)
    5. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    6. Novel p47(phox)-related organizers regulate localized NADPH oxidase 1 (Nox1) activity. (PubMed id 19755710)1, 2 Gianni D....Bokoch G.M. (2009)
    7. Non-replication of an association of CTNNBL1 polymorphisms and obesity in a population of Central European ancestry. (PubMed id 19228371)1, 4 Vogel C.I....Hinney A. (2009)
    8. A novel gene, fad49, plays a crucial role in the immediate early stage of adipocyte differentiation via involvement in mitotic clonal expansion. (PubMed id 18959745)1, 2 Hishida T.... Imagawa M. (2008)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 285590 HGNC: 29242 AceView: LOC285590 Ensembl:ENSG00000174705 euGenes: HUgn285590
    ECgene: SH3PXD2B H-InvDB: SH3PXD2B

    (According to HUGE)
    About This Section
    HUGE: KIAA1295

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SH3PXD2B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SH3PXD2B gene:
    Search GeneIP for patents involving SH3PXD2B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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