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

SH3BGR Gene

protein-coding   GIFtS: 56
GCID: GC21P040817

SH3 Domain Binding Glutamic Acid-Rich Protein

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
SH3 Domain Binding Glutamic Acid-Rich Protein1 2     SH3 Domain-Binding Glutamic Acid-Rich Protein2
21-Glutamic Acid-Rich Protein1 2 3     SH3-Binding Domain And Glutamic Acid-Rich Protein2
21-GARP2 3     SH3BGR Protein3
21-Glutamic Acid-Rich Protein (21-GARP)11     SH3GBR5

External Ids:    HGNC: 108221   Entrez Gene: 64502   Ensembl: ENSG000001854377   OMIM: 6022305   UniProtKB: P558223   

Export aliases for SH3BGR gene to outside databases

Previous GC identifers: GC21P037398 GC21P039738 GC21P039744 GC21P039745 GC21P026286


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

GeneCards Summary for SH3BGR Gene: 
SH3BGR (SH3 domain binding glutamic acid-rich protein) is a protein-coding gene. Diseases associated with SH3BGR include down syndrome, and obesity. GO annotations related to this gene include SH3/SH2 adaptor activity and SH3 domain binding. An important paralog of this gene is SH3BGRL2.

Gene Wiki entry for SH3BGR Gene


(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NT_011512.11  NC_018932.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SH3BGR gene promoter:
         CREB   c-Rel   RFX1   deltaCREB   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SH3BGR promoter sequence

   Search SABiosciences Chromatin IP Primers for SH3BGR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH3BGR


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.2   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.2
SH3BGR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3BGR gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P040817:   GeneLoc Nature:405,311-319
Start:
40,817,781 bp from pter       26,397,539 bp from centromere
End:
40,887,433 bp from pter 26,461,157 bp from centromere
Size:
69,653 bases 63,619 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: X93498
genomic clones: P1031P17 to P70I24


(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: SH3BG_HUMAN, P55822 (See protein sequence)
Recommended Name: SH3 domain-binding glutamic acid-rich protein  
Size: 239 amino acids; 26086 Da
Caution: It is uncertain whether Met-1 or Met-64 is the initiator
Secondary accessions: A6ND59 D3DSI2 Q9BRB8
Alternative splicing: 2 isoforms:  P55822-1   P55822-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SH3BGR: NX_P55822

Explore proteomics data for SH3BGR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55822

  • SH3BGR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SH3BGR Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001001713.1  NP_031367.1  

    ENSEMBL proteins: 
     ENSP00000370011   ENSP00000370008   ENSP00000404980   ENSP00000401572   ENSP00000370005  
     ENSP00000332513   ENSP00000405675   ENSP00000413981   ENSP00000403115  

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    Cloud-Clone Corp. Proteins for SH3BGR 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IDA16780588

    SH3BGR for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR006993 Glut_rich_SH3-bd
     IPR012336 Thioredoxin-like_fold

    Graphical View of Domain Structure for InterPro Entry P55822

    ProtoNet protein and cluster: P55822

    1 Blocks protein domain: IPB006993 SH3-binding

    UniProtKB/Swiss-Prot: SH3BG_HUMAN, P55822
    Similarity: Belongs to the SH3BGR family


    SH3BGR 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:
         Genatlas biochemistry entry for SH3BGR:
    SH3 domain binding,glutamic acid rich protein,expressed only in heart and skeletal muscle

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005070SH3/SH2 adaptor activity TAS9050928
    GO:0017124SH3 domain binding IEA--
         
    SH3BGR for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SH3BGR 
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    SwitchGear 3'UTR luciferase reporter plasmidSH3BGR 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3BGR


    (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 SH3BGR

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for SH3BGR (P558223 ENSP000003325134) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAPN1P073843, ENSP000002792474I2D: score=2 STRING: ENSP00000279247
    FCHSD2O948683, ENSP000003867224I2D: score=1 STRING: ENSP00000386722
    CAPN3ENSP000003803494STRING: ENSP00000380349
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS9050928

    SH3BGR 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 SH3BGR (SH3BG)

    Search CenterWatch for drugs/clinical trials and news about SH3BGR / SH3BG

    (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 SH3BGR gene (2 alternative transcripts): 
    NM_001001713.1  NM_007341.2  

    Unigene Cluster for SH3BGR:

    SH3 domain binding glutamic acid-rich protein
    Hs.473847  [show with all ESTs]
    Unigene Representative Sequence: NM_007341
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380637(uc002yxz.3) ENST00000380634 ENST00000458295 ENST00000440288
    ENST00000380631 ENST00000333634(uc002yya.3) ENST00000452550 ENST00000423596
    ENST00000447939
    miRNA
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    hsa-miR-3678-3p hsa-miR-203 hsa-miR-875-3p hsa-miR-330-5p hsa-miR-130a* hsa-miR-23c hsa-miR-23b hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidSH3BGR 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SH3BGR
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    Additional mRNA sequence: 

    BC006371.2 BT006994.1 X93498.1 

    8 DOTS entries:

    DT.102834035  DT.311166  DT.121139415  DT.95268325  DT.97841175  DT.121139456  DT.121139386  DT.91895956 

    24/393 AceView cDNA sequences (see all 393):

    AI696477 BE644931 BP372637 BM698634 BU729884 CB113614 BU734633 BM470417 
    BM669961 CR618183 NM_001001713 BX092195 NM_007341 AI934908 AA627711 AA687449 
    AA247739 BM128577 BP368925 BE673753 AA099383 CB114295 AI583388 AI631271 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SH3BGR    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
    SP1:                                                      
    SP2:                                -                     
    SP3:                                                      


    ECgene alternative splicing isoforms for SH3BGR

    (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

    SH3BGR expression in normal human tissues (normalized intensities)      SH3BGR embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGTTCTCT
    SH3BGR Expression
    About this image


    SH3BGR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 7 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Heart Tube
             heart/ventricle   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   

    See SH3BGR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SH3BGR

    SOURCE GeneReport for Unigene cluster: Hs.473847

    UniProtKB/Swiss-Prot: SH3BG_HUMAN, P55822
    Tissue specificity: Expressed in heart and skeletal muscle

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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 animals.

    Orthologs for SH3BGR gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3bgr1 , 5 SH3-binding domain glutamic acid-rich protein1, 5 82.85(n)1
    86.71(a)1
      16 (56.86 cM)5
    507951  NM_015825.21  NP_056640.11 
     962004705 
    chicken
    (Gallus gallus)
    Aves SH3BGR1 SH3 domain binding glutamic acid-rich protein 73.81(n)
    72.62(a)
      418523  XM_416732.3  XP_416732.1 
    lizard
    (Anolis carolinensis)
    Reptilia SH3BGR6
    SH3 domain binding glutamic acid-rich protein
    48(a)
    1 ↔ 1
    3(139595125-139638556)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.245372 Xenopus laevis transcribed sequence with moderate similarity more 76.09(n)    BJ058013.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.134872 Transcribed sequence with weak similarity to protein more 73.83(n)    BI865553.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sh3beta1 CG8582-PA 49.6(n)
    38.1(a)
      38820  NM_001202128.1  NP_001189057.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y105E8A.16
    Protein Y105E8A.1
    24(a)
    1 → many
    I(14341520-14343805)


    ENSEMBL Gene Tree for SH3BGR (if available)
    TreeFam Gene Tree for SH3BGR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SH3BGR gene
    SH3BGRL22  SH3BGRL2  SH3BGRL32  
    3 SIMAP similar genes for SH3BGR using alignment to 6 protein entries:     SH3BG_HUMAN (see all proteins):
    SH3BGRL    SH3BGRL2    SH3BGRL3

    SH3BGR 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

    10/1446 SNPs in SH3BGR are shown (see all 1446)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs782806141,2
    F--40818216(+) AGTTAT/CAGATG 1 -- int11Minor allele frequency- C:0.01WA 118
    rs1808698531,2
    --40818260(+) TTAGGA/GAGACT 1 -- int10--------
    rs28370351,2
    C,F,O,H--40818379(+) TTCCTA/GCAAGC 1 -- int129Minor allele frequency- N:0.00NA EA NS CSA WA 2997
    rs1459864401,2
    C--40818403(+) AAAGC-/ATATATG 1 -- int10--------
    rs2011574791,2
    --40818404(+) AAGCA-/TTATGC 1 -- int10--------
    rs1168861151,2
    C,F--40818586(+) TTCCCA/GTATCT 1 -- int11Minor allele frequency- G:0.03NA 120
    rs1836217271,2
    --40818784(+) TTGGTA/GTTTGT 1 -- int10--------
    rs1460030911,2
    --40818892(+) CTTTGA/GTAGAA 1 -- int10--------
    rs1892192991,2
    --40818911(+) GGACAA/GGCTTT 1 -- int10--------
    rs1398417701,2
    C--40818927(+) CATATC/TACCAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for SH3BGR (40817781 - 40887433 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SH3BGR:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723434CNV Deletion23290073
    esv34779CNV Gain17911159
    dgv1373e1CNV Complex17122850

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    (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: 602230    OMIM disorders: --

    4 diseases for SH3BGR:    About MalaCards
    down syndrome    obesity    pancreatic cancer    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for SH3BGR:
    Down syndrome

    SH3BGR for disorders           About GeneDecksing

    Genetic Association Database (GAD): SH3BGR
    Human Genome Epidemiology (HuGE) Navigator: SH3BGR (1 document)

    Export disorders for SH3BGR 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)
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    PubMed articles for SH3BGR gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SH3BGR)
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    1. Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle. (PubMed id 9050928)1, 2, 3, 9 Scartezzini P.... Rasore-Quartino A. (1997)
    2. Use of genome-wide expression data to mine the ' Gray Zone' of GWA studies leads to novel candidate obesity genes. (PubMed id 20532202)1, 4 Naukkarinen J....Peltonen L. (2010)
    3. 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)
    4. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    5. Identification of multi-SH3 domain-containing protein interactome in pancreatic cancer: a yeast two-hybrid approach. (PubMed id 18654987)1 Thalappilly S....Dusetti N.J. (2008)
    6. Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. (PubMed id 16780588)1 Hu Y.H....Janitz M. (2006)
    7. Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region. (PubMed id 14767758)1 Sandri C....Schiaffino S. (2004)
    8. Screening the proteins that interact with calpain in a human heart cDNA library using a yeast two-hybrid system. (PubMed id 12358155)1 Jiang L.Q....Chen L.Y. (2002)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6450 HGNC: 10822 AceView: WRBandSH3BGR Ensembl:ENSG00000185437 euGenes: HUgn6450
    ECgene: SH3BGR H-InvDB: SH3BGR

    (According to HUGE)
    About This Section
      --

    (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 SH3BGR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SH3BGR gene:
    Search GeneIP for patents involving SH3BGR

    GeneCards and IP:
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