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SH3BP2 Gene

protein-coding   GIFtS: 63

GC04P002831
SH3-domain binding protein 2
(Previous name: Cherubism )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

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

Aliases & Descriptions
SH3-domain binding protein 21 2     Abl-SH3 binding protein 22
CRBM1 2     SH3 domain-binding protein 22
3BP-22 3     OTTHUMP000002190262
3BP22 3     FLJ549782
CRPM2 5     TNFAIP3 interacting protein 22
Cherubism1     OTTHUMP000002190242
RES4-231     FLJ420792

External Ids:    HGNC: 108251   Entrez Gene: 64522   Ensembl: ENSG000000872667   UniProtKB: P783143   

Export aliases for SH3BP2 gene to outside databases

Previous GC identifers: GC04P002783 GC04M9I0057 GC04P002826 GC04P002851


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

Entrez Gene summary for SH3BP2:
The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region,
and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK
protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional
activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq)

UniProtKB/Swiss-Prot: 3BP2_HUMAN, P78314
Function: Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to
phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation
dependent mechanism


(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SH3BP2 gene promoter:
         Bach1   PPAR-gamma2   PPAR-gamma1   Bach2   Elk-1   MZF-1   LCR-F1   JunD   c-Fos   c-Jun   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for SH3BP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for SH3BP2 


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

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

SH3BP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3BP2 gene location

GeneLoc gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P002831:  view genomic region     (about GC identifiers)

Start:
2,733,534 bp from pter
End:
2,781,278 bp from pter
Size:
47,745 bases
Orientation:
plus strand

1 alternative location:
Chr4+ 2,794,750-2,842,825     
RefSeq DNA sequence:
NC_000004.11  NT_006051.18  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: 3BP2_HUMAN, P78314 (See protein sequence)
Recommended Name: SH3 domain-binding protein 2  
Size: 561 amino acids; 62244 Da
PDB structures from and Proteopedia :
2CR4 (3D)    
Secondary accessions: A6NNC2 B2R5R6 O00500 O15373 P78315
Alternative splicing: 2 isoforms:  P78314-1   P78314-2   

Explore the universe of human proteins at neXtProt for SH3BP2: NX_P78314 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (4 alternative transcripts): 
    NP_001116153.1  NP_001139327.1  NP_001139328.1  NP_003014.3  


    ENSEMBL proteins: 
    ENSP00000422605 ENSP00000426818 ENSP00000424917 ENSP00000374488 ENSP00000422796 ENSP00000348685 
    ENSP00000388152 ENSP00000425537 ENSP00000424072 ENSP00000409746 ENSP00000422168 ENSP00000424846 
    ENSP00000424105 ENSP00000403231 ENSP00000423823 ENSP00000423275 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: SH3BP2
    OriGene Protein Over-expression Lysate: SH3BP2
    GenScript Custom Purified and Recombinant Proteins Services for SH3BP2 
    Novus Biologicals Protein for SH3BP2
    Novus Biologicals Lysate for SH3BP2
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins


    Antibodies for SH3BP2: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for SH3BP2
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for SH3BP2 
    Novus Biologicals Antibodies for SH3BP2
    Epitomics antibodies for SH3BP2

    Assays for SH3BP2: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SH3BP2 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for SH3BP2 


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

    SH3BP2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_type
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry P78314

    ProtoNet protein and cluster: P78314

    1 Blocks protein family: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: 3BP2_HUMAN, P78314
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH2 domain


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: 3BP2_HUMAN, P78314
    Function: Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to
    phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation
    dependent mechanism

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for SH3BP2
    Sigma-Aldrich shRNA for SH3BP2
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): SH3BP2
    OriGene shRNA RFP (see all 4): SH3BP2
    OriGene basic RS shRNA (see all 4): SH3BP2
    OriGene siRNA (see all 4): SH3BP2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of SH3BP2 
    miRNA:Sigma-Aldrich microRNA Mimics for SH3BP2
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of SH3BP2 
    1 SABiosciences Assays for microRNA that regulate SH3BP2:
    hsa-miR-370

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): SH3BP2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): SH3BP2
    OriGene untagged cDNA clones in CMV expression vector (see all 2): SH3BP2
    OriGene 3'-UTR clone (see all 4): SH3BP2 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for SH3BP2 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for SH3BP2 

    Genatlas biochemistry entry for SH3BP2:
    Src homology domain 3 (SH3) binding protein BP2,mouse homolog within a common region of deletion in bladder carcinoma

    3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005070 SH3/SH2 adaptor activity TAS9299232
    GO:0005515 protein binding IEA--
    GO:0017124 SH3 domain binding IEA--
    About this table

    SH3BP2 for ontologies           About GeneDecksing

    Animal Models: 14 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sh3bp2):

    craniofacialdigestive/alimentaryhematopoietic systemhomeostasis/metabolismimmune system
    life span-post-weaning/aginglimbs/digits/tailliver/biliary systemmusclenervous system
    respiratory systemskeletonskin/coat/nailsvision/eye

    SH3BP2 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    SH3BP2 for pathways           About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  SH3BP2
        Natural Killer Cell Signaling

    1 Kegg Pathway  (Kegg details for SH3BP2):
        hsa04650 Natural killer cell mediated cytotoxicity

        SABiosciences Custom Pathway-Focused PCR Arrays for SH3BP2 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for SH3BP2
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SH3BP2

    5/26 Interacting proteins for SH3BP2 (P783142 ENSP000003486853) via UniProtKB, MINT, and/or STRING (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VAV1P154982, ENSP000003022693MINT-4563411 MINT-4549720 MINT-7301369 MINT-7301313 MINT-7301258 MINT-7301359 MINT-8026718 MINT-7301343 STRING: ENSP00000302269
    VAV2P527352, ENSP000003172583MINT-7301295 MINT-7301276 MINT-7301412 MINT-8026751 STRING: ENSP00000317258
    PTPN6P293502, ENSP000003260103MINT-8031622 MINT-8031638 STRING: ENSP00000326010
    PLCG1P191742, ENSP000003623693MINT-7301369 MINT-8026740 STRING: ENSP00000362369
    SYKP434052, ENSP000003648983MINT-7301369 MINT-7301412 STRING: ENSP00000364898
    About this table

    1 Gene Ontology (GO) biological process term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165 signal transduction TAS9299232
    About this table

    SH3BP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SH3BP2


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for SH3BP2
    Sigma-Aldrich shRNA for SH3BP2
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): SH3BP2
    OriGene shRNA RFP (see all 4): SH3BP2
    OriGene basic RS shRNA (see all 4): SH3BP2
    OriGene siRNA (see all 4): SH3BP2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of SH3BP2 
    miRNA: Sigma-Aldrich microRNA Mimics for SH3BP2
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of SH3BP2 
    1 SABiosciences Assays for microRNA that regulate SH3BP2:
    hsa-miR-370
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): SH3BP2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): SH3BP2
    OriGene untagged cDNA clones in CMV expression vector (see all 2): SH3BP2
    OriGene 3'-UTR Clone (see all 4): SH3BP2 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for SH3BP2 
    Primers: OriGene genome-wide validated SYBR primer pairs: SH3BP2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for SH3BP2: PPH13362A

    REFSEQ mRNAs for SH3BP2 gene (4 alternative transcripts): 

    NM_001122681.1  NM_001145855.1  NM_001145856.1  NM_003023.4  

    Additional cDNA sequence: 

    AB000462.1 AF000936.1 AK124073.1 AK225497.1 AK299996.1 AK307106.1 AK312286.1 BC022996.1 
    CR619042.1 L37198.1 U56386.1 

    22 DOTS entries:

    DT.97801635  DT.454424  DT.95111500  DT.100761526  DT.95111475  DT.100761523  DT.121232491  DT.75100814 
    DT.100773501  DT.100761530  DT.92430343  DT.95111470  DT.95344938  DT.100747139  DT.121232473  DT.121232516 
    DT.121244845  DT.92430341  DT.95352426  DT.97767357  DT.99975478  DT.100761525 

    24/187 AceView cDNA sequences (see all 187):

    CF456690 BG562732 AW292318 BU632158 AI424336 T39472 BE465238 BM923179 
    BX505033 BC022996 BQ072759 BU629042 AW139011 AI093427 BM715322 AA490488 
    CB851004 BM973429 CR619042 CA436549 BU680159 CA487534 AW469668 AW451700 

    highest scoring ESTs for SH3BP2:

    AB000462 AA368035 AA457694 AA480801 AA584353 AA703648 AB000463 AF000936 AI080398 AI393190 

    Unigene Cluster for SH3BP2:

    SH3-domain binding protein 2
    Hs.167679  [show with all ESTs]
    Unigene Representative Sequence: NM_001145855


    GeneLoc Exon Structure

    5/25 Alternative Splicing Database (ASD) splice patterns (SP) for SH3BP2 (see all 25)

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ·
    SP1:                                                                                                                                                        -   
    SP2:                                                                                                              -                             -           -   
    SP3:                                -     -     -     -     -     -     -     -     -     -     -     -     -     -                             -           -   
    SP4:                                                                                                                                                            
    SP5:                                                                                -     -     -     -     -     -                             -           -   

    ExUns: 17c · 17d ^ 18 ^ 19a · 19b · 19c · 19d ^ 20a · 20b · 20c ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28
    SP1:  -     -     -     -                       -                                                                             -         
    SP2:  -     -     -     -                       -                                                                             -         
    SP3:  -     -     -     -                       -                                                                             -         
    SP4:                                                                                                                          -         
    SP5:  -     -     -     -                       -                                                                                       

    About this scheme

    ECgene alternative splicing isoforms for SH3BP2
    18/30 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):
    ENST00000515737 ENST00000504450 ENST00000511237 ENST00000513069 ENST00000508385
    ENST00000510074 ENST00000510193 ENST00000512131 ENST00000389838 ENST00000515183
    ENST00000503219 ENST00000356331(uc003gfk.3 uc003gfl.3) ENST00000442312(uc003gfi.3 uc011bvp.1 uc003gfj.3 uc003gfm.3)
    ENST00000502260 ENST00000515802 ENST00000509677 ENST00000513020 ENST00000452765


    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    SH3BP2 expression in normal and diseased human tissues

    1  / 2  / 3

    10 probe-sets matching SH3BP2 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    1303_at2, 3 U95-A 1 0.94 1.00 0.95 0.49 AB000462 1.00 1.00 1.00 1
    74544_at2, 3 U95-D 1 0.88 1.00 0.93 1.52 AI769930 0.20 1.00 0.72 1
    211250_s_at2, 3 U133-A 1 1.00 1.00 -- -- AB000463 0.80 1.00 0.91 1
    209370_s_at2, 3 U133-A 1 0.91 1.00 -- -- BE502377 0.60 1.00 0.82 1
    209371_s_at2, 3 U133-A 1 0.91 1.00 -- -- AB000462 1.00 1.00 1.00 1
    217253_at2, 3 U133-A 1 0.36 1.00 -- -- L37198 0.20 1.00 0.72 1
    211250_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    209370_s_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    209371_s_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    217253_at2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    About this table

    SH3BP2 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    SH3BP2 gene expression
    SH3BP2 gene electronic northern expression
    SH3BP2 gene sage expression
    About these images

    CGAP SAGE TAG: GGAGGGTGAG

    SOURCE GeneReport for Unigene cluster: Hs.167679

    Expression variation in blood from EXPOLDB for SH3BP2

    UniProtKB/Swiss-Prot: 3BP2_HUMAN, P78314
    Tissue specificity: Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas

    Primers: OriGene genome-wide validated SYBR primer pairs: SH3BP2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for SH3BP2: PPH13362A
        SABiosciences Custom PCR Arrays for SH3BP2 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for SH3BP2 gene from 5/6 species (see all 6)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    SH3BP21   -- SH3-domain binding protein 2 85.38(n)
    85.56(a)
    488797  XM_845559.1  XP_850652.1 
    chimpanzee
    (Pan troglodytes)
    SH3BP21   -- SH3-domain binding protein 2 94.35(n)
    93.22(a)
    461080  XM_517076.2  XP_517076.2 
    rat
    (Rattus norvegicus)
    Sh3bp21   -- SH3-domain binding protein 2 83.51(n)
    86.07(a)
    305450  XM_223534.4  XP_223534.4 
    mouse
    (Mus musculus)
    Sh3bp21 , 5 5 (17.89 cM)5
    SH3-domain binding protein 21, 5 84.08(n)1
    87.3(a)1
    240551  NM_011893.21  NP_036023.21 
     AK0894555  AK1435485  (see all 14)
    chicken
    (Gallus gallus)
    SH3BP21   -- SH3-domain binding protein 2 63.43(n)
    63.74(a)
    422883  NM_001031165.1  NP_001026336.1 
    About this table        Species with no ortholog for SH3BP2

    ENSEMBL Gene Tree for SH3BP2 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/622 NCBI SNPs in SH3BP2 are shown (see all 622)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 4 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs109241,2
    C,F,2838473(+) CCCTGC/TGTTGC 3 -- ut315Minor allele frequency- T:0.35MN NA 626
    rs1707631,2
    C,F,A,H,2837724(+) TGCTGA/TGCTAG 3 -- ut312Minor allele frequency- T:0.01MN NA 188
    rs1729981,2
    C,F,A,2800529(-) AGAGGT/ACTCAG 1 -- int17Minor allele frequency- A:0.49EA NA NS 344
    rs1795851,2
    C,A,2820387(-) CCCGAA/GGGAGC 3 -- int1 ng513Minor allele frequency- G:0.09MN NA 188
    rs1828201,2
    2794954(-) CAGACA/CGCCAA 1 -- int10--------
    rs1828211,2
    C,A,2820404(-) CGCCCT/AACCGC 3 -- int1 ng512Minor allele frequency- A:0.25NA 4
    rs1891391,2
    C,F,O,H,2832727(-) CTTCCG/AAACAT 3 -- int19Minor allele frequency- A:0.38MN NS EA NA 768
    rs1901601,2
    C,F,A,H,2799025(-) CCAGAC/TTCCCA 1 -- int15Minor allele frequency- T:0.34NA EA WA 216
    rs2313311,2
    C,F,A,2798170(-) CAGCAC/TGATCT 1 -- int110Minor allele frequency- T:0.32NS EA NA WA 620
    rs2313321,2
    C,2797877(-) GCAGAT/ACAGGA 1 -- int15Minor allele frequency- A:0.50NA WA 128
    About this table

    HapMap Linkage Disequilibrium images for SH3BP2 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SH3BP2
         3 CNVs: 51374 30193 30194

    Search QIAGEN SeqTarget long-range PCR primers for resequencing for SH3BP2 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SH3BP2 for disorders           About GeneDecksing

    OMIM: 602104   disorders: 118400  

    UniProtKB/Swiss-Prot: 3BP2_HUMAN, P78314

  • Defects in SH3BP2 are the cause of cherubism (CRBM) [MIM:118400]. CRBM is an autosomal dominant inherited
  • syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three
    years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling

    3 Novoseek disease relationships for SH3BP2 gene

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cherubism 97.9 40 14577811 (4), 16836910 (3), 12900899 (3), 16713042 (3) (see all 18)
    central giant cell granuloma 81.2 2 16713042 (2)
    granuloma giant cell 77.4 1 16713042 (1)
    About this table

    GeneTests: SH3BP2
    Cherubism

    Human Gene Mutation Database (HGMD): SH3BP2
    Human Genome Epidemiology (HuGE) Navigator: SH3BP2 (2 documents)

    Export disorders and mutations for SH3BP2 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

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

    10/54 PubMed articles for SH3BP2 gene, integrated from 7 sources (see all 54):
    (articles sorted by number of sources associating them with SH3BP2)
    1. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. (PubMed id 11381256)1, 2, 3, 7 Ueki Y....Reichenberger E. (2001)
    2. Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer. (PubMed id 9299232)1, 2, 3 Bell S.M.... Knowles M.A. (1997)
    3. A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. (PubMed id 14577811)1, 2, 7 Imai Y....Yamada A. (2003)
    4. Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. (PubMed id 12900899)1, 2, 7 Lo B....Teebi A.S. (2003)
    5. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The primary structure and genomic organization of five novel transcripts located close to the Huntington's disease gene on human chromosome 4p16.3. (PubMed id 9734812)1, 2 Hadano S.... Ikeda J.-E. (1998)
    8. Tyrosine phosphorylation of 3BP2 regulates B cell rec eptor-mediated activation of NFAT. (PubMed id 19833725)1, 7 Shukla U....Sada K. (2009)
    9. The adaptor protein 3BP2 binds human CD244 and links this receptor to Vav signaling, ERK activation, and NK cell killing. (PubMed id 16177062)1, 7 Saborit-Villarroya I....Martin M. (2005)
    10. NFATc1 and TNFalpha expression in giant cell lesions of the jaws. (PubMed id 20002873)1, 7 Amaral F.R....Gomez R.S. (2010)

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

      Query String
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      (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: 6452 HGNC: 10825 AceView: SH3BP2 Ensembl:ENSG00000087266 euGenes: HUgn6452
    ECgene: SH3BP2 Kegg: 6452 H-InvDB: SH3BP2

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for SH3BP2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SH3BP2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for SH3BP2 gene:
    Search GeneIP for patents involving SH3BP2

    GeneCards and IP:
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