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SH3BGRL2 Gene

protein-coding   GIFtS: 51
GCID: GC06P080397

SH3 Domain Binding Glutamate-Rich Protein Like 2

(Previous name: SH3 domain binding glutamic acid-rich protein like 2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SH3 Domain Binding Glutamate-Rich Protein Like 21 2
SH3 Domain Binding Glutamic Acid-Rich Protein Like 21 2
Fovea-Associated SH3 Domain-Binding Protein2 3
SH3 Domain-Binding Glutamic Acid-Rich-Like Protein 22
FASH33

External Ids:    HGNC: 155671   Entrez Gene: 836992   Ensembl: ENSG000001984787   OMIM: 6156785   UniProtKB: Q9UJC53   

Export aliases for SH3BGRL2 gene to outside databases

Previous GC identifers: GC06P080283 GC06P080336 GC06P077561


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SH3BGRL2 Gene:
SH3BGRL2 (SH3 domain binding glutamate-rich protein like 2) is a protein-coding gene. Diseases associated with SH3BGRL2 include gout, and cystic fibrosis. GO annotations related to this gene include SH3 domain binding. An important paralog of this gene is 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH3BGRL2 gene promoter:
         HFH-3   HOXA9   HOXA9B   MAZR   Meis-1b   FOXI1   Meis-1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH3BGRL2 promoter sequence
   Search Chromatin IP Primers for SH3BGRL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH3BGRL2


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

Entrez Gene cytogenetic band: 6q14.1   Ensembl cytogenetic band:  6q14.1   HGNC cytogenetic band: 6q14.1

SH3BGRL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3BGRL2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P080397:  view genomic region     (about GC identifiers)

Start:
80,341,000 bp from pter      End:
80,413,372 bp from pter
Size:
72,373 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SH3L2_HUMAN, Q9UJC5 (See protein sequence)
Recommended Name: SH3 domain-binding glutamic acid-rich-like protein 2  
Size: 107 amino acids; 12326 Da
1 PDB 3D structure from and Proteopedia for SH3BGRL2:
2CT6 (3D)    
Secondary accessions: A8MQU2 Q2VPC2 Q5VV96 Q6NSK8 Q6P9E8 Q7Z734 Q8IWD3 Q9BPY5

Explore the universe of human proteins at neXtProt for SH3BGRL2: NX_Q9UJC5

Explore proteomics data for SH3BGRL2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys98
  • Modification sites at PhosphoSitePlus

  • See SH3BGRL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_113657.1  
    ENSEMBL proteins: 
     ENSP00000358853  

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

    Graphical View of Domain Structure for InterPro Entry Q9UJC5

    ProtoNet protein and cluster: Q9UJC5

    1 Blocks protein domain: IPB006993 SH3-binding

    UniProtKB/Swiss-Prot: SH3L2_HUMAN, Q9UJC5
    Similarity: Belongs to the SH3BGR family


    SH3BGRL2 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009055electron carrier activity ----
    GO:0015035protein disulfide oxidoreductase activity ----
    GO:0017124SH3 domain binding IEA--
         
    SH3BGRL2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SH3BGRL2:
     Increased S DNA content  Increased number of mitotic ce 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SH3BGRL2
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    miRNA
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    miRTarBase miRNAs that target SH3BGRL2:
    hsa-mir-195-5p (MIRT044871)

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    Selected qRT-PCR Assays for microRNAs that regulate SH3BGRL2 (see all 78):
    hsa-miR-361-5p hsa-miR-631 hsa-miR-15a hsa-miR-128 hsa-miR-371-5p hsa-miR-3613-3p hsa-miR-29a* hsa-miR-510
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3BGRL2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SH3L2_HUMAN, Q9UJC5: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    SH3BGRL2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SH3BGRL2
    Interactions:

        Search GeneGlobe Interaction Network for SH3BGRL2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for SH3BGRL2 (Q9UJC53 ENSP000003588534) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135693I2D: score=1 
    IQCB1ENSP000003115054STRING: ENSP00000311505
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045454cell redox homeostasis ----

    SH3BGRL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SH3BGRL2 (SH3L2)

    1 Novoseek inferred chemical compound relationship for SH3BGRL2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 37 4 9571151 (1), 10702676 (1), 9872323 (1)



    SH3BGRL2 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SH3BGRL2 gene: 
    NM_031469.2  

    Unigene Cluster for SH3BGRL2:

    SH3 domain binding glutamic acid-rich protein like 2
    Hs.302772  [show with all ESTs]
    Unigene Representative Sequence: AF340151
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000369838(uc003piz.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat SH3BGRL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SH3BGRL2 (see all 78):
    hsa-miR-361-5p hsa-miR-631 hsa-miR-15a hsa-miR-128 hsa-miR-371-5p hsa-miR-3613-3p hsa-miR-29a* hsa-miR-510
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SH3BGRL2
      QuantiTect SYBR Green Assays in human, mouse, rat SH3BGRL2
      QuantiFast Probe-based Assays in human, mouse, rat SH3BGRL2

    Additional mRNA sequence: 

    AF131754.1 AF340151.1 AJ297972.1 AK074506.1 AK307145.1 AK311757.1 BC040489.1 BC052987.1 
    BC060799.1 BC070059.1 BC109043.2 BC109044.2 

    7 DOTS entries:

    DT.91997496  DT.100820211  DT.91702006  DT.95169615  DT.121329356  DT.91817680  DT.40130256 

    Selected AceView cDNA sequences (see all 200):

    BM684721 AI090954 BM796044 AJ297972 AI805175 BX487672 AW055145 AI188610 
    CB243442 BU151133 AI554117 BE219120 BC060799 BC052987 AA344270 AI094172 
    BU685270 BC070059 AA384740 BM068734 Z38912 AI262420 BM054709 AI916207 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SH3BGRL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGTATCCT
    SH3BGRL2 Expression
    About this image


    SH3BGRL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Podocytes Podocyte Layer
     
     Kidney (Urinary System)
             Podocytes Podocyte Layer
    SH3BGRL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH3BGRL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.302772

    UniProtKB/Swiss-Prot: SH3L2_HUMAN, Q9UJC5
    Tissue specificity: Highly expressed in brain, placenta, liver and kidney. Expressed in retina

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SH3BGRL2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3bgrl21 , 5 SH3 domain binding glutamic acid-rich protein like more1, 5 88.47(n)1
    93.46(a)1
      9 (45.49 cM)5
    2125311  NM_172507.51  NP_766095.11 
     835483385 
    chicken
    (Gallus gallus)
    Aves SH3BGRL21 SH3 domain binding glutamic acid-rich protein like more 80.77(n)
    85.58(a)
      421851  XM_419869.4  XP_419869.4 
    lizard
    (Anolis carolinensis)
    Reptilia SH3BGRL26
    SH3 domain binding glutamic acid-rich protein like...
    81(a)
    1 ↔ 1
    1(199480286-199510749)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC056126.12   -- 77.71(n)    BC056126.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sh3bgrl21 SH3 domain binding glutamic acid-rich protein like more 68.73(n)
    73.2(a)
      431744  NM_001002197.1  NP_001002197.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sh3beta6
    Sh3beta
    8(a)
    1 → many
    3L(7357684-7362360)
    worm
    (Caenorhabditis elegans)
    Secernentea Y105E8A.16
    Protein Y105E8A.1, isoform b
    18(a)
    1 → many
    I(14341520-14343805) WBGene00013666


    ENSEMBL Gene Tree for SH3BGRL2 (if available)
    TreeFam Gene Tree for SH3BGRL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SH3BGRL2 gene
    SH3BGRL2  SH3BGR2  SH3BGRL32  
    4 SIMAP similar genes for SH3BGRL2 using alignment to 1 protein entry:     SH3L2_HUMAN:
    SH3BGRL    SH3BGR    HEL-S-297    SH3BGRL3

    SH3BGRL2 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SH3BGRL2 (see all 1402)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs786151201,2
    C,F--80339028(+) CTCTTG/CTTTTC 1 -- us2k11Minor allele frequency- C:0.08WA 118
    rs1883287571,2
    --80339058(+) TTTAGA/GGTAGA 1 -- us2k10--------
    rs784351731,2
    C,F--80339060(+) TAGGGT/CAGAAA 1 -- us2k11Minor allele frequency- C:0.07WA 118
    rs26556841,2
    C,F,A,H--80339088(+) TGGCTC/TAGGTG 1 -- us2k127Minor allele frequency- T:0.21NS EA NA WA CSA 2770
    rs776120631,2
    C,F--80339101(+) CACTCC/TTAGAT 1 -- us2k11Minor allele frequency- T:0.05NA 120
    rs2020544941,2
    --80339154(+) GGCTT-/GGGGGG 1 -- us2k10--------
    rs1383072591,2
    C--80339166(+) CCCTT-/ACAACC 1 -- us2k10--------
    rs1492524061,2
    --80339361(+) CCCTGC/TATCCT 1 -- us2k10--------
    rs790088321,2
    F--80339465(+) GTGTCT/CTGTTC 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs94487531,2
    C,F--80339503(+) CTTTCC/GTAGAC 1 -- us2k1 trp32Minor allele frequency- G:0.12CSA WA 120

    HapMap Linkage Disequilibrium report for SH3BGRL2 (80341000 - 80413372 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SH3BGRL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1139e199CNV Deletion23128226
    nsv5368CNV Insertion18451855
    dgv6930n71CNV Gain21882294
    nsv886304CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SH3BGRL2
    DNA2.0 Custom Variant and Variant Library Synthesis for SH3BGRL2

    (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.)
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    OMIM gene information: 615678    OMIM disorders: --

    2 diseases for SH3BGRL2:    
    About MalaCards
    gout    cystic fibrosis


    SH3BGRL2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SH3BGRL2
    Human Genome Epidemiology (HuGE) Navigator: SH3BGRL2 (2 documents)

    Export disorders for SH3BGRL2 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 SH3BGRL2 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with SH3BGRL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The identification of a novel human homologue of the SH3 binding glutamic acid-rich (SH3BGR) gene establishes a new family of highly conserved small proteins related to Thioredoxin Superfamily. (PubMed id 12095696)1, 2, 3 Mazzocco M.... Scartezzini P. (Gene 2002)
    2. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. (PubMed id 20522523)1, 4 KasperaviciAte D....Sisodiya S.M. (Brain 2010)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    4. Linkage and association of successful aging to the 6q25 region in large Amish kindreds. (PubMed id 22773346)1 Edwards D.R....Scott W.K. (Age (Dordr) 2013)
    5. The P-body component USP52/PAN2 is a novel regulator of HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (Biochem. J. 2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PubMed id 21565611)1 Sang L.... Jackson P.K. (Cell 2011)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)

    (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: 83699 HGNC: 15567 AceView: SH3BGRL2 Ensembl:ENSG00000198478 euGenes: HUgn83699
    ECgene: SH3BGRL2 H-InvDB: SH3BGRL2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SH3BGRL2 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 SH3BGRL2 gene:
    Search GeneIP for patents involving SH3BGRL2

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



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