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

SH3BGRL Gene

protein-coding   GIFtS: 56
GCID: GC0XP080457

SH3 domain binding glutamic acid-rich protein like

 Explore 3 diseases affiliated with
SH3BGRL via our new
 Human Malady Compendium 
Biological research products
for SH3BGRL
    

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

Aliases
SH3 Domain Binding Glutamic Acid-Rich Protein Like1 2
SH3BGR2 5
MGC1174021
SH3 Domain-Binding Glutamic Acid-Rich-Like Protein2
SH3-Binding Domain Glutamic Acid-Rich Protein Like2

External Ids:    HGNC: 108231   Entrez Gene: 64512   Ensembl: ENSG000001311717   OMIM: 3001905   UniProtKB: O753683   

Export aliases for SH3BGRL gene to outside databases

Previous GC identifers: GC0XP076003 GC0XP077419 GC0XP078498 GC0XP079213 GC0XP080263 GC0XP074037


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

Gene Wiki entry for SH3BGRL


(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_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SH3BGRL gene promoter:
         HOXA9B   HOXA9   RP58   C/EBPbeta   FOXO3   FOXO3b   Meis-1b   FOXO3a   RSRFC4   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH3BGRL promoter sequence
   Search SABiosciences Chromatin IP Primers for SH3BGRL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH3BGRL


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

Entrez Gene cytogenetic band: Xq13.3   Ensembl cytogenetic band:  Xq21.1   HGNC cytogenetic band: Xq13.3

SH3BGRL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3BGRL gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP080457:  view genomic region     (about GC identifiers)

Start:
80,457,303 bp from pter      End:
80,554,046 bp from pter
Size:
96,744 bases      Orientation:
plus 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: SH3L1_HUMAN, O75368 (See protein sequence)
Recommended Name: SH3 domain-binding glutamic acid-rich-like protein  
Size: 114 amino acids; 12774 Da
2 PDB 3D structures from and Proteopedia for SH3BGRL:
1U6T (3D)        1WRY (3D)    
Secondary accessions: Q3SYL1 Q5JT50 Q6FIE8 Q9H0N8

Explore the universe of human proteins at neXtProt for SH3BGRL: NX_O75368

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75368

  • SH3BGRL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003013.1  
    ENSEMBL proteins: 
     ENSP00000362308  

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    ProSpec Recombinant Protein for SH3BGRL
    Uscn Proteins for SH3BGRL

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS16130169
    GO:0005737cytoplasm TAS16130169


    SH3BGRL for ontologies           About GeneDecksing



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    Uscn Antibodies for SH3BGRL
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SH3BGRL for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR006993 Glut_rich_SH3-bd
     IPR012336 Thioredoxin-like_fold

    Graphical View of Domain Structure for InterPro Entry O75368

    ProtoNet protein and cluster: O75368

    1 Blocks protein family: IPB006993 SH3-binding

    UniProtKB/Swiss-Prot: SH3L1_HUMAN, O75368
    Similarity: Belongs to the SH3BGR family


    (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:
         Genatlas biochemistry entry for SH3BGRL:
    SH3 domain binding,glutamic acid protein-like,widely expressed

    miRNA
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    hsa-miR-548j hsa-miR-548w hsa-miR-3163 hsa-miR-559 hsa-miR-548i hsa-miR-548h hsa-miR-548c-5p hsa-miR-548y
    SwitchGear 3'UTR luciferase reporter plasmidSH3BGRL 3' UTR sequence
    Inhib. RNA
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    Search LifeMap BioReagents cell lines for SH3BGRL

    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3BGRL

    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 TAS9642120
    GO:0017124SH3 domain binding IEA--


    SH3BGRL for ontologies           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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway1.00


    1 BioSystems Pathway for SH3BGRL 
        EGFR1 Signaling Pathway


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SH3BGRL

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for SH3BGRL (O753682, 3 ENSP000003623084) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGFRP005332, 3, ENSP000002754934MINT-61483 I2D: score=3 STRING: ENSP00000275493
    ATG5Q9H1Y03I2D: score=1 
    ERBB2P046263I2D: score=1 
    IL7RP168713I2D: score=1 
    TPT1ENSP000003683504STRING: ENSP00000368350
    About this table

    (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 SH3BGRL
    Search CenterWatch for drugs/clinical trials and news about SH3BGRL / SH3L1 

    (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 SH3BGRL gene: 
    NM_003022.2  

    Unigene Cluster for SH3BGRL:

    SH3 domain binding glutamic acid-rich protein like
    Hs.108029  [show with all ESTs]
    Unigene Representative Sequence: NM_003022
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373212(uc004eef.3 uc011mqs.2 uc010nml.3 uc010nmm.3 uc010nmn.3)
    ENST00000481106 ENST00000463546 ENST00000474113

    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate SH3BGRL (see all 16):
    hsa-miR-548j hsa-miR-548w hsa-miR-3163 hsa-miR-559 hsa-miR-548i hsa-miR-548h hsa-miR-548c-5p hsa-miR-548y
    SwitchGear 3'UTR luciferase reporter plasmidSH3BGRL 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SH3BGRL (see all 4)
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    Additional cDNA sequence: 

    AF042081.1 AK024892.1 AK129610.1 AK309350.1 AK309351.1 AK309352.1 AK310011.1 AK310155.1 
    AK315897.1 AL136718.1 BC016709.1 BC103762.1 CR533478.1 

    22 DOTS entries:

    DT.80101740  DT.101981144  DT.100845614  DT.100845613  DT.121321260  DT.100845612  DT.99956343  DT.100845611 
    DT.87017199  DT.100845628  DT.95117451  DT.121321192  DT.121321250  DT.91770810  DT.100701582  DT.100845608 
    DT.121321196  DT.121321203  DT.121321282  DT.121321290  DT.91770798  DT.99979017 

    24/564 AceView cDNA sequences (see all 564):

    AI589471 AA034026 AI041371 AW188906 AA233655 BQ899237 AI805736 BP349835 
    BQ717246 BI792957 BP342128 CA449722 CR615275 AI336777 AI434645 W19682 
    AI185768 AA854450 BU072130 BP337625 AW515435 AI937153 BU631298 AW591665 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SH3BGRL (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e
    SP1:                          -     -     -     -                             -                                 
    SP2:                                      -     -     -                       -                                 
    SP3:                          -     -     -     -     -                       -                                 
    SP4:                                                  -                       -                                 
    SP5:                          -     -     -     -     -           -           -                                 


    ECgene alternative splicing isoforms for SH3BGRL

    (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

    SH3BGRL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGATTCAAAC

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

    About this image

    SH3BGRL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemMesonephrosMesonephric cellsReproductive System
    TestisSeminiferous TubulesSertoli cellsTestis
    KidneyMetanephrosKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SH3BGRL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SH3BGRL

    SOURCE GeneReport for Unigene cluster: Hs.108029

    UniProtKB/Swiss-Prot: SH3L1_HUMAN, O75368
    Tissue specificity: Ubiquitous

        SABiosciences Custom PCR Arrays for SH3BGRL
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3BGRL

    (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 SH3BGRL gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3bgrl1 , 5 SH3-binding domain glutamic acid-rich protein like1, 5 92.69(n)1
    94.74(a)1
      X (47.92 cM)5
    567261  NM_019989.21  NP_064373.11 
     1090953655 
    chicken
    (Gallus gallus)
    Aves SH3BGRL1 SH3 domain binding glutamic acid-rich protein like 80.12(n)
    86.84(a)
      422277  NM_001012574.1  NP_001012592.1 
    lizard
    (Anolis carolinensis)
    Reptilia SH3BGRL6
    --
    85(a)
    1 ↔ 1
    GL343202.1(20006-51358)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc641302 similar to SH3 domain binding glutamic acid-rich protein more 75.05(n)   394184  BC054623.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sh3beta6
    Sh3beta
    8(a)
    1 → many
    3L(7357684-7362360)
    worm
    (Caenorhabditis elegans)
    Secernentea Y105E8A.16
    --
    27(a)
    1 → many
    I(14341621-14343793)


    ENSEMBL Gene Tree for SH3BGRL (if available)
    TreeFam Gene Tree for SH3BGRL (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SH3BGRL gene
    SH3BGRL22  SH3BGR2  SH3BGRL32  
    3 SIMAP similar genes for SH3BGRL using alignment to 2 protein entries:     SH3L1_HUMAN (see all proteins):
    SH3BGRL2    SH3BGR    SH3BGRL3

    SH3BGRL 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

    10/1128 NCBI SNPs in SH3BGRL are shown (see all 1128    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1381650551,2
    --80455422(+) ACTATC/GATCAG 2 -- int1 us2k10--------
    rs1821282201,2
    --80455584(+) TCTCAA/GAAGAA 2 -- int1 us2k10--------
    rs1422754611,2
    --80455615(+) ACATAC/TGCAAA 2 -- int1 us2k10--------
    rs1138482191,2
    C--80455619(+) ATGAAC/AAAAAG 2 -- int1 us2k12Minor allele frequency- A:0.25NA 4
    rs764897391,2
    C--80455646(+) ATTAGG/AGAAAT 2 -- us2k1 int11Minor allele frequency- A:0.50WA 2
    rs1872136751,2
    --80455652(+) GAAATA/GCAAAT 2 -- us2k1 int10--------
    rs129864511,2
    C,F--80455786(-) cttccG/Acaatg 2 -- int1 us2k12Minor allele frequency- A:0.50NA CSA 4
    rs351688891,2
    C,F--80455909(-) ACATAC/TGTGTG 2 -- int1 us2k12Minor allele frequency- T:0.50NA 4
    rs59598391,2
    C,--80455933(+) attcaT/Caatag 2 -- us2k1 int12Minor allele frequency- C:0.00NA 4
    rs1884315281,2
    --80455944(+) CAAAGA/GCTTGG 2 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for SH3BGRL (80457303 - 80554046 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SH3BGRL: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SH3BGRL
    DNA2.0 Custom Variant and Variant Library Synthesis for SH3BGRL

    (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

    SH3BGRL for disorders           About GeneDecksing

    OMIM gene information: 300190    OMIM disorders: --

    3 diseases for SH3BGRL:    About MalaCards
    down syndrome    endocarditis    obesity

    1 disease from the University of Copenhagen DISEASES database for SH3BGRL:
    Down syndrome
    Human Genome Epidemiology (HuGE) Navigator: SH3BGRL (1 document)

    Export disorders for SH3BGRL 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 SH3BGRL gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with SH3BGRL)
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    1. Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene. (PubMed id 9642120)1, 2, 3, 9 Egeo A.... Scartezzini P. (1998)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    3. Crystal structure of human SH3BGRL protein: the first structure of the human SH3BGR family representing a novel class of thioredoxin fold proteins. (PubMed id 16080146)1, 2 Yin L.... Wang D.C. (2005)
    4. 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)
    5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Use of genome-wide expression data to mine the ' Gray Zone' of GWA studies leads to novel candidate obesity genes. (PubMed id 20532202)1 Naukkarinen J....Peltonen L. (2010)
    10. The suppression of SH3BGRL is important for v-Rel-mediated transformation. (PubMed id 16186799)1 Majid S.M....Bose H.R. (2006)

    (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)
    About This Section
    Entrez Gene: 6451 HGNC: 10823 AceView: SH3BGRL Ensembl:ENSG00000131171 euGenes: HUgn6451
    ECgene: SH3BGRL H-InvDB: SH3BGRL

    (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 SH3BGRL 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 SH3BGRL gene:
    Search GeneIP for patents involving SH3BGRL

    GeneCards and IP:
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