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SH3GL2 Gene

protein-coding   GIFtS: 62
GCID: GC09P017569

SH3-Domain GRB2-Like 2

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(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 GRB2-Like 21 2     SH3P42 5
CNSA22 3     BA335L15.1 (SH3-Domain GRB2-Like 2)2
EEN-B12 3     Endophilin A1 BAR Domain2
SH3D2A2 3     endophilin-12
SH3 Domain Protein 2A2 3     endophilin-A12
SH3 Domain-Containing GRB2-Like Protein 22 3     Endophilin-13

External Ids:    HGNC: 108311   Entrez Gene: 64562   Ensembl: ENSG000001072957   OMIM: 6044655   UniProtKB: Q999623   

Export aliases for SH3GL2 gene to outside databases

Previous GC identifer: GC09P017744


(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 SH3GL2 Gene:
SH3GL2 (SH3-domain GRB2-like 2) is a protein-coding gene. Diseases associated with SH3GL2 include juvenile astrocytoma, and pandas. GO annotations related to this gene include lipid binding and identical protein binding. An important paralog of this gene is SH3GL3.

UniProtKB/Swiss-Prot: SH3G2_HUMAN, Q99962
Function: Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature

Gene Wiki entry for SH3GL2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH3GL2 gene promoter:
         Nkx3-1   Nkx3-1 v4   Nkx3-1 v1   NF-kappaB   AREB6   Nkx3-1 v2   RORalpha1   NF-kappaB2   Nkx3-1 v3   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SH3GL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH3GL2


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

Entrez Gene cytogenetic band: 9p22   Ensembl cytogenetic band:  9p22.2   HGNC cytogenetic band: 9p22

SH3GL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3GL2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P017569:  view genomic region     (about GC identifiers)

Start:
17,578,953 bp from pter      End:
17,797,127 bp from pter
Size:
218,175 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SH3G2_HUMAN, Q99962 (See protein sequence)
Recommended Name: Endophilin-A1  
Size: 352 amino acids; 39962 Da
Subunit: Monomer; in cytoplasm. Homodimer; when associated with membranes (By similarity). Interacts with OPHN1
(By similarity). Interacts with SYNJ1 and DNM1. Interacts with MAP4K3; the interaction appears to regulate
MAP4K3-mediated JNK activation. Interacts with PDCD6IP. Interacts with ATX2. Interacts with ADAM9 and ADAM15
cytoplasmic tails. Interacts with BIN2
Miscellaneous: HeLa cells expressing the N-BAR domain of SH3GL2 show tubulation of the plasma membrane. The N-BAR
domain binds liposomes and induces formation of tubules from liposomes. The N-terminal amphipathic helix is
required for liposome binding. The second amphipathic helix enhances liposome tubulation
4 PDB 3D structures from and Proteopedia for SH3GL2:
1X03 (3D)        1X04 (3D)        2D4C (3D)        2DBM (3D)    
Secondary accessions: B2R618 Q9NQK5

Explore the universe of human proteins at neXtProt for SH3GL2: NX_Q99962

Explore proteomics data for SH3GL2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SH3GL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003017.1  
    ENSEMBL proteins: 
     ENSP00000369981   ENSP00000443365  
    Reactome Protein details: Q99962

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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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    4 InterPro protein domains:
     IPR027267 AH/BAR-dom
     IPR001452 SH3_domain
     IPR013315 Spectrin_alpha_SH3
     IPR004148 BAR_dom

    Graphical View of Domain Structure for InterPro Entry Q99962

    ProtoNet protein and cluster: Q99962

    1 Blocks protein domain: IPB001452 SH3 domain signature

    UniProtKB/Swiss-Prot: SH3G2_HUMAN, Q99962
    Domain: An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of
    the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes. The BAR domain dimer forms a
    rigid crescent shaped bundle of helices with the pair of second amphipathic helices protruding towards the
    membrane-binding surface
    Similarity: Belongs to the endophilin family
    Similarity: Contains 1 BAR domain
    Similarity: Contains 1 SH3 domain


    SH3GL2 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SH3G2_HUMAN, Q99962
    Function: Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature

         Genatlas biochemistry entry for SH3GL2:
    Src-homology 3 domain GRB2-like gene 2,expressed in the brain

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10531379
    GO:0008289lipid binding IEA--
    GO:0042802identical protein binding IPI16115810
         
    SH3GL2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SH3GL2:
     Decreased circadian period len 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sh3gl2):
     behavior/neurological  growth/size/body  mortality/aging  nervous system  normal 
     respiratory system 

    SH3GL2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sh3gl2tm1Pdc for SH3GL2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SH3GL2
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    miRNA
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    miRTarBase miRNAs that target SH3GL2:
    hsa-mir-330-3p (MIRT006922), hsa-mir-26b-5p (MIRT029583)

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    Selected qRT-PCR Assays for microRNAs that regulate SH3GL2 (see all 23):
    hsa-miR-362-3p hsa-miR-448 hsa-miR-146a hsa-miR-15a hsa-miR-4299 hsa-miR-103a hsa-miR-424 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidSH3GL2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3GL2


    (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
    SH3G2_HUMAN, Q99962: Cytoplasm. Membrane; Peripheral membrane protein. Note=Concentrated in presynaptic nerve
    terminals in neurons
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    golgi apparatus4
    plasma membrane4
    nucleus2
    endosome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0030669clathrin-coated endocytic vesicle membrane TAS--

    SH3GL2 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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    SuperPaths for SH3GL2 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    Lysosome Vesicle Biogenesis0.41
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    trans-Golgi Network Vesicle Budding0.89
    2Signaling by FGFR
    Signaling by EGFR0.83
    NGF signalling via TRKA from the plasma membrane0.71
    Signaling by EGFR in Cancer0.82
    Signalling by NGF0.71
    3L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    4Endocytic Trafficking of EGFR
    Retrograde neurotrophin signalling0.36
    Recycling pathway of L10.33
    5Signaling by GPCR
    Signal Transduction0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for SH3GL2
        EGFR1 Signaling Pathway
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    Internalization of ErbB1
    RhoA signaling pathway

    Selected Reactome Pathways for SH3GL2 (see all 6)
        Recycling pathway of L1
    Golgi Associated Vesicle Biogenesis
    Lysosome Vesicle Biogenesis
    Retrograde neurotrophin signalling
    MHC class II antigen presentation


    1 Kegg Pathway  (Kegg details for SH3GL2):
        Endocytosis


    SH3GL2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SH3GL2
    Interactions:

        GeneGlobe Interaction Network for SH3GL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SH3GL2 (Q999621, 2, 3 ENSP000003699814) via UniProtKB, MINT, STRING, and/or I2D (see all 155)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3KBP1Q96B971, 2, 3, ENSP000003809214EBI-77938,EBI-346595 MINT-6170185 MINT-6170213 MINT-6170139 MINT-8270583 MINT-6170229 MINT-6170513 I2D: score=4 STRING: ENSP00000380921
    ATXN2Q997001, 2, 3, ENSP000003668434EBI-77938,EBI-697691 MINT-7310170 MINT-7310032 MINT-7309999 MINT-7310105 MINT-7310152 I2D: score=4 STRING: ENSP00000366843
    SH3GL1Q999611, 2, 3, ENSP000002698864EBI-77938,EBI-697911 MINT-8270561 I2D: score=3 STRING: ENSP00000269886
    ITCHQ96J022, 3, ENSP000003639984MINT-19901 MINT-19904 MINT-19902 I2D: score=4 STRING: ENSP00000363998
    SYNJ1O434262, 3, ENSP000003222344MINT-16185 MINT-16186 I2D: score=5 STRING: ENSP00000322234
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    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002090regulation of receptor internalization IEA--
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0007165signal transduction TAS9169142
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007411axon guidance TAS--

    SH3GL2 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 SH3GL2 (SH3G2)



    (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,
    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 SH3GL2 gene: 
    NM_003026.2  

    Unigene Cluster for SH3GL2:

    SH3-domain GRB2-like 2
    Hs.75149  [show with all ESTs]
    Unigene Representative Sequence: NM_003026
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000467085 ENST00000380607(uc003zna.3 uc011lmy.2) ENST00000537391(uc011lmx.1)


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    hsa-miR-362-3p hsa-miR-448 hsa-miR-146a hsa-miR-15a hsa-miR-4299 hsa-miR-103a hsa-miR-424 hsa-miR-133a
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    Additional mRNA sequence: 

    AB206840.1 AF036268.1 AK057744.1 AK293546.1 AK293592.1 AK302273.1 AK302572.1 AK312400.1 
    BC032825.2 BT019682.1 BX538074.1 CR542086.1 CR542102.1 X99657.1 

    10 DOTS entries:

    DT.112496  DT.101981118  DT.91684589  DT.121147108  DT.100774774  DT.121147110  DT.95371106  DT.100774775 
    DT.121147109  DT.95212463 

    Selected AceView cDNA sequences (see all 72):

    BI755396 BM450966 BP349111 BI919260 CR542102 CD242702 BQ268249 CD108610 
    CR601861 CR542086 AI916857 BM991648 BM925595 BX282149 AL134218 BP349046 
    AK057744 AL539288 BF434859 AI813981 AL567131 AV725919 AF036268 BP361958 

    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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    SH3GL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAGTGAAA
    SH3GL2 Expression
    About this image


    SH3GL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Cerebral Cortex
             Human Hippocampal Astrocytes   
             Globus Pallidus   
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Kidney (Urinary System)
             Renal Collecting Duct System
    SH3GL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH3GL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75149

    UniProtKB/Swiss-Prot: SH3G2_HUMAN, Q99962
    Tissue specificity: Brain, mostly in frontal cortex. Expressed at high level in fetal cerebellum

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3GL2

    (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 SH3GL2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3gl21 , 5 SH3-domain GRB2-like 21, 5 90.53(n)1
    98.86(a)1
      4 (40.23 cM)5
    204041  NM_019535.21  NP_062408.21 
     852051265 
    chicken
    (Gallus gallus)
    Aves SH3GL21 SH3-domain GRB2-like 2 84.75(n)
    90.62(a)
      395203  NM_204530.1  NP_989861.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    89(a)
    80(a)
    1 ↔ many
    1 ↔ many
    2(36373756-36523572)
    GL344668.1(644-22183)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.57962 Xenopus laevis transcribed sequence with moderate similarity more 79.32(n)    BX847052.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc556162 similar to SH3-domain GRB2-like 2 75.93(n)   394091  BC044199.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta endoA3 synaptic vesicle endocytosis
    lysophosphatidic more
    48(a)   91D4   --
    worm
    (Caenorhabditis elegans)
    Secernentea T04D1.33   -- 47(a)   I(4675134-4676809)   --


    ENSEMBL Gene Tree for SH3GL2 (if available)
    TreeFam Gene Tree for SH3GL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SH3GL2 gene
    SH3GL32  SH3GL12  SH3GLB12  SH3GLB22  
    Selected SIMAP similar genes for SH3GL2 using alignment to 7 protein entries:     SH3G2_HUMAN (see all proteins) (see all similar genes):
    DKFZp686B23205    SH3GL1    SH3GL3    RUTBC3    SGSM3    ABI-2
    ABI2    VAV1    argBPIB    SH3KBP1    CD2AP    SH3RF3
    SORBS2    ITSN1    SH3RF1    NEBL    OSTF1    GRB2

    SH3GL2 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 SH3GL2 (see all 6295)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1393837221,2
    Cuntested117790290(+) TGTACA/C/GACTTT 2 N D mis10--------
    rs70345881,2
    C,H--17571721(+) catatC/AaGATG 1 -- us2k110Minor allele frequency- A:0.00NA WA CSA 138
    rs1822930931,2
    --17571871(+) AGGGAA/CAGATA 1 -- us2k10--------
    rs1405207951,2
    --17571973(+) GAGAGC/TAGAGC 1 -- us2k10--------
    rs70348501,2
    C,F,A,H--17571974(+) AGAGCG/AGAGCT 1 -- us2k113Minor allele frequency- A:0.16NA WA CSA EA 376
    rs1159797201,2
    C,F--17571987(+) TATCCA/TTCCCA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs734126681,2
    C--17571994(+) CCCAGG/TCCCTT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1874058891,2
    --17572013(+) TAGATC/TAATTG 1 -- us2k10--------
    rs1144024071,2
    F--17572111(+) TAAAAT/CACTTT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs750733991,2
    --17572149(+) CTTTTA/TAAAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SH3GL2 (17578953 - 17797127 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SH3GL2 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1329e199CNV Deletion23128226
    esv2738245CNV Deletion23290073
    esv2422265CNV Duplication17116639
    esv269109CNV Insertion20981092
    esv272367CNV Insertion20981092
    esv1357911CNV Insertion17803354
    esv272492CNV Insertion20981092
    nsv466279CNV Loss19166990
    nsv510185CNV Loss20534489
    nsv892674CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SH3GL2
    DNA2.0 Custom Variant and Variant Library Synthesis for SH3GL2

    (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.)
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    OMIM gene information: 604465    OMIM disorders: --

    19 diseases for SH3GL2:    
    About MalaCards
    juvenile astrocytoma    pandas    laryngeal carcinoma    laryngitis
    astrocytoma    pulmonary function    parkinson's disease    multiple sclerosis
    ataxia    schizophrenia    obesity    alzheimer's disease
    lung cancer    prostate cancer    leukemia    cerebritis
    prostatitis    neuronitis    endotheliitis


    SH3GL2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SH3GL2
    Human Genome Epidemiology (HuGE) Navigator: SH3GL2 (3 documents)

    Export disorders for SH3GL2 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 SH3GL2 gene, integrated from 10 sources (see all 89):
    (articles sorted by number of sources associating them with SH3GL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel SH3-containing human gene family preferentially expressed in the central nervous system. (PubMed id 9169142)1, 2, 3 Giachino C....Migone N. (Genomics 1997)
    2. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. (PubMed id 22451204)1, 4 Pankratz N....Foroud T. (Ann. Neurol. 2012)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. (PubMed id 20445134)1, 4 Smith N.L....Vasan R.S. (Circ Cardiovasc Genet 2010)
    5. Multi-ethnic genetic association study of carotid intima-media thickness using a targeted cardiovascular SNP microarray. (PubMed id 19679847)1, 4 Lanktree M.B....Anand S.S. ( a journal of cerebral circulation 2009)
    6. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (Hum. Mol. Genet. 2009)
    7. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PubMed id 19734545)1, 4 Need A.C....Goldstein D.B. (Hum. Mol. Genet. 2009)
    8. Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. (PubMed id 18602463)1, 2 Nonis D....Auburger G. (Cell. Signal. 2008)
    9. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    10. The SH3 domains of endophilin and amphiphysin bind to the proline- rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity. (PubMed id 10542231)1, 2 Cestra G.... Cesareni G. (J. Biol. Chem. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6456 HGNC: 10831 AceView: SH3GL2 Ensembl:ENSG00000107295 euGenes: HUgn6456
    ECgene: SH3GL2 Kegg: 6456 H-InvDB: SH3GL2

    (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 SH3GL2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SH3GL2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SH3GL2 gene:
    Search GeneIP for patents involving SH3GL2

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



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