Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

SH3PXD2B Gene

protein-coding   GIFtS: 51
GCID: GC05M171693

SH3 and PX domains 2B

(Previous name: KIAA1295 )
(Previous symbol: KIAA1295)
 Explore 5 diseases affiliated with
SH3PXD2B via our new
 Human Malady Compendium 
Biological research products
for SH3PXD2B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SH3 And PX Domains 2B1 2     FTHS2 5
KIAA12951 2 3 5     FLJ208311
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
FAD492 3     

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:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_023133.13  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Phosphorylated in SRC-transformed cells (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A1X283

  • SH3PXD2B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001017995.1  
    ENSEMBL proteins: 
     ENSP00000430890   ENSP00000428076   ENSP00000309714  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: SH3PXD2B
    OriGene Custom Protein Services for SH3PXD2B 
    GenScript Custom Purified and Recombinant Proteins Services for SH3PXD2B
    Novus Biologicals SH3PXD2B Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SH3PXD2B
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SH3PXD2B 
    GenScript Custom Superior Antibodies Services for SH3PXD2B
    Novus Biologicals SH3PXD2B Antibody
    Search for Antibodies for SH3PXD2B at Abcam  
    Uscn Antibodies for SH3PXD2B
    Search ThermoFisher Antibodies for SH3PXD2B

    Assay Products for SH3PXD2B: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SH3PXD2B
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for SH3PXD2B


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SH3PXD2B for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: SH3PXD2B
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SH3PXD2B
    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate SH3PXD2B (see all 37):
    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
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SH3PXD2B (see all 4)
    OriGene shRNA RFP: SH3PXD2B
    OriGene siRNA: SH3PXD2B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SH3PXD2B

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SH3PXD2B

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SH3PXD2B (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SH3PXD2B
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SH3PXD2B (NM_001017995)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SH3PXD2B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SH3PXD2B 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SH3PXD2B
    Search LifeMap BioReagents cell lines for SH3PXD2B

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3PXD2B

    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 IPI--
    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


    1 GenomeRNAi human phenotype for SH3PXD2B:
     Synthetic lethal with Ras 

    Animal Models:
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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, 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
    Search CenterWatch for drugs/clinical trials and news about SH3PXD2B / SPD2B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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)


    miRNA
    Products:
         
    OriGene 3'-UTR Clone: SH3PXD2B
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SH3PXD2B
    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate SH3PXD2B (see all 37):
    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
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SH3PXD2B (see all 4)
    OriGene shRNA RFP: SH3PXD2B
    OriGene siRNA: SH3PXD2B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SH3PXD2B
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SH3PXD2B (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SH3PXD2B
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SH3PXD2B (NM_001017995)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SH3PXD2B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SH3PXD2B 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SH3PXD2B
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SH3PXD2B
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SH3PXD2B
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SH3PXD2B

    Additional cDNA 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):

    AL602545 BQ670718 BQ425493 BQ673887 AK095834 BC038561 BM550368 BQ894211 
    BC065230 BQ669074 BM975700 AW994552 AA335129 BM930205 CA308160 BQ070829 
    AA324444 AA626816 BM911216 BQ009220 AI804427 BU855503 AI383301 CA425647 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SH3PXD2B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

        SABiosciences Custom PCR Arrays for SH3PXD2B
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SH3PXD2B
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SH3PXD2B
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SH3PXD2B
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SH3PXD2B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3PXD2B

    (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 4/13 species (see all 13)    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
    --
    68(a)
    1 ↔ 1
    2(123921378-123971365)
    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
    SH3PXD2A2  NOXO12  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, UniProtKB, 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

    10/2503 NCBI SNPs in SH3PXD2B are shown (see all 2503    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs100684621,2
    C,--166855555(+) gcgccC/Tgacac 1 -- ds50010--------
    rs1146442231,2
    C,F,--166856851(+) CTGCAC/TCCTCA 1 -- ut311Minor allele frequency- T:0.02WA 118
    rs743640581,2
    C,F,--166856904(+) TGACAC/TGAGGT 1 -- ut311Minor allele frequency- T:0.04NA 120
    rs50267441,2
    H--166857251(+) TCAGCC/TTAAGG 1 -- ut31 ese34Minor allele frequency- T:0.00NS EA 420
    rs1164068951,2
    C,F,--166857563(+) CGAGCA/GGAACA 1 -- ut311Minor allele frequency- G:0.03WA 118
    rs776221301,2
    C,--166857909(+) ACAAAC/ACCAAA 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1121696051,2
    --166857953(+) GGCCAC/GTATTT 1 -- ut312Minor allele frequency- G:0.03CSA WA 119
    rs1143030171,2
    C,F,--166858058(+) GTGTTT/CAGGCA 1 -- ut311Minor allele frequency- C:0.03WA 118
    rs1154108601,2
    C,F,--166858092(+) CACCAT/CTGTCA 1 -- ut311Minor allele frequency- C:0.02WA 118
    rs1127108191,2
    --166858249(+) CTGACC/TCACCC 1 -- ut311Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for SH3PXD2B (171752185 - 171881527 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SH3PXD2B
         1 CNV: 99355
    Human Gene Mutation Database (HGMD): SH3PXD2B

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SH3PXD2B for disorders           About GeneDecksing

    OMIM gene information: 613293   
    OMIM disorders: 249420  
    UniProtKB/Swiss-Prot: SPD2B_HUMAN, A1X283
  • Defects in SH3PXD2B are the cause of Frank-Ter Haar syndrome (FTHS) [MIM:249420]. It is 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

    5 diseases for SH3PXD2B:    About MalaCards
    frank ter haar syndrome    axenfeld-rieger syndrome    glaucoma    colon cancer
    obesity

    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 24):
    (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. 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)
    4. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    5. Novel p47(phox)-related organizers regulate localized NADPH oxidase 1 (Nox1) activity. (PubMed id 19755710)1, 2 Gianni D....Bokoch G.M. (2009)
    6. 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)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Frank-ter Haar syndrome protein Tks4 regulates epiderm al growth factor-dependent cell migration. (PubMed id 22829589)1 Bogel G....Buday L. (2012)
    9. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    10. The homolog of the five SH3-domain protein (HOFI/SH3P XD2B) regulates lamellipodia formation and cell spreading. (PubMed id 21886807)1 LA!nyi A.8....Geiszt M. (2011)

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of SH3PXD2B
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for SH3PXD2B  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SH3PXD2B   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SH3PXD2B  
     OriGene Protein Over-expression Lysate for SH3PXD2B   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for SH3PXD2B   OriGene 3'-UTR Clone for SH3PXD2B  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SH3PXD2B   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SH3PXD2B  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SH3PXD2B   OriGene Custom Protein Services for SH3PXD2B  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SH3PXD2B
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SH3PXD2B
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH3PXD2B
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SH3PXD2B
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SH3PXD2B
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SH3PXD2B
     GenScript Custom Purified and Recombinant Proteins Services for SH3PXD2B GenScript cDNA clones with any tag delivered in your preferred vector for SH3PXD2B
     GenScript Custom Assay Services for SH3PXD2B GenScript Custom Superior Antibodies Services for SH3PXD2B
     GenScript Custom overexpressing Cell Line Services for SH3PXD2B CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SH3PXD2B promoter
     Search Chromatin IP Primers for SH3PXD2B
     RT2 qPCR Primer Assay in human, mouse, rat SH3PXD2B
     Search GNC Networks for SH3PXD2B
     SABiosciences Custom PCR Arrays for SH3PXD2B
     Search Tocris compounds for SH3PXD2B
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SH3PXD2B antibodies
     SH3PXD2B lysates
     Search for Antibodies for SH3PXD2B at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SH3PXD2B
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     SH3PXD2B Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for SH3PXD2B
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3PXD2B
     Browse SwitchGear 3'UTR luciferase reporter plasmids for SH3PXD2B
     SwitchGear Promoter luciferase reporter plasmids for SH3PXD2B
     Search ThermoFisher Antibodies for SH3PXD2B
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SH3PXD2B
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SH3PXD2B gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4