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

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)
About This Section

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

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, and among its related super-pathways are Axon guidance and Signaling by FGFR. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SH3GL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Note=Concentrated in presynaptic nerve
terminals in neurons
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99962

  • SH3GL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SH3GL2 Protein Expression
    REFSEQ proteins: NP_003017.1  
    ENSEMBL proteins: 
     ENSP00000369981   ENSP00000443365  
    Reactome Protein details: Q99962
    Human Recombinant Protein Products for SH3GL2: 
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    Cloud-Clone Corp. Proteins for SH3GL2 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    SH3GL2 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
    5 InterPro protein domains:
     IPR013315 Spectrin_alpha_SH3
     IPR011511 SH3_2
     IPR027267 AH/BAR-dom
     IPR001452 SH3_domain
     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,
    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:

         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 (GO ID links to tree view):    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 1 allele(MGI details for Sh3gl2):
     behavior/neurological  growth/size  mortality/aging  nervous system  normal 
     respiratory system 

    SH3GL2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sh3gl2tm1Pdc for SH3GL2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SH3GL2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SH3GL2 
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    Inhib. RNA
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    (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

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

    SuperPathContained pathways About
    1Axon guidance
    Axon guidance0.69
    Recycling pathway of L10.38
    Developmental Biology0.69
    Signal transduction by L10.32
    L1CAM interactions0.39
    2Signaling by FGFR
    Signaling by EGFR0.84
    NGF signalling via TRKA from the plasma membrane0.71
    Signaling by EGFR in Cancer0.83
    Signalling by NGF0.71
    3Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Lysosome Vesicle Biogenesis0.39
    4Immune System
    Immune System0.56
    Adaptive Immune System0.56
    5Endocytic Trafficking of EGFR
    Retrograde neurotrophin signalling0.36
    EGFR downregulation0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    5/21        Reactome Pathways for SH3GL2 (see all 21)
        L1CAM interactions
    Developmental Biology
    Membrane Trafficking
    Clathrin derived vesicle budding
    Signaling by EGFR in Cancer


    1         Kegg Pathway  (Kegg details for SH3GL2):
        Endocytosis


    SH3GL2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SH3GL2

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

    5/147 Interacting proteins for SH3GL2 (Q999621, 2, 3 ENSP000003699814) via UniProtKB, MINT, STRING, and/or I2D (see all 147)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN2Q997001, 2, 3, ENSP000003668434EBI-77938,EBI-697691 MINT-7310170 MINT-7310032 MINT-7309999 MINT-7310105 MINT-7310152 I2D: score=4 STRING: ENSP00000366843
    SH3KBP1Q96B972, 3, ENSP000003809214MINT-6170185 MINT-6170213 MINT-6170139 MINT-8270583 MINT-6170229 MINT-6170513 I2D: score=4 STRING: ENSP00000380921
    ITCHQ96J022, 3, ENSP000003639984MINT-19901 MINT-19904 MINT-19902 I2D: score=4 STRING: ENSP00000363998
    SYNJ1O434262, 3, ENSP000003222344MINT-16185 MINT-16186 I2D: score=5 STRING: ENSP00000322234
    SH3GL1Q999612, 3, ENSP000002698864MINT-8270561 I2D: score=3 STRING: ENSP00000269886
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    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 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 SH3GL2 (SH3G2)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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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    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 

    24/72 AceView cDNA sequences (see all 72):

    BM450966 CR601861 BQ268249 BP349111 CR542102 CD108610 CR542086 BI755396 
    CD242702 BI919260 AA429114 AL538081 CA774631 AF036268 BF434859 AL539288 
    AW149386 CK905999 CK003551 AI813981 BM991648 AV725919 BX538074 BQ267984 

    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™, 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

    SH3GL2 expression in normal human tissues (normalized intensities)      SH3GL2 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Human Hippocampal Astrocytes   
             Globus Pallidus   
     
     Neuron (Nervous System)    fully expand to see all 2 entries
             Human Neuron (HN)   
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Inner Cell Mass (Early Embryonic Tissues)
             Sox17-GFP genetically modified stem cells
     
     Kidney (Urinary System)
             Renal Collecting Duct System

    See SH3GL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SH3GL2

    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
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SH3GL2 gene from 7/17 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 --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    89(a)
    81(a)
    (see all 3)
    1 ↔ many
    possible ortholog
    (see all 3)
    2(36373756-36523572)
    AAWZ02039932(604-807)
    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)
    About This Section
    Paralogs for SH3GL2 gene
    SH3GL32  SH3GL12  SH3GLB12  SH3GLB22  
    18/82 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    ITSN1    CD2AP
    SH3RF3    SORBS2    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) 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

    10/6295 SNPs in SH3GL2 are shown (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) 10/21 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

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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: 604465    OMIM disorders: --

    10 diseases for SH3GL2:    About MalaCards
    juvenile astrocytoma    pandas    laryngeal carcinoma    laryngitis
    astrocytoma    schizophrenia    parkinson's disease    alzheimer's disease
    neuronitis    leukemia


    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)
    About This Section

    PubMed articles for SH3GL2 gene, integrated from 9 sources (see all 85):
    (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. (1997)
    2. Meta-analysis of Parkinson's disease: identification o f a novel locus, RIT2. (PubMed id 22451204)1, 4 Pankratz N....Foroud T. (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. (2010)
    4. Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospecti ve meta-analysis from the cohorts for heart and aging research in genomic epide miology (CHARGE) consortium. (PubMed id 20445134)1, 4 Smith N.L....Vasan R.S. (2010)
    5. Multi-ethnic genetic association study of carotid int ima-media thickness using a targeted cardiovascular SNP microarray. (PubMed id 19679847)1, 4 Lanktree M.B....Anand S.S. (2009)
    6. A genome-wide study of common SNPs and CNVs in cognit ive performance in the CANTAB. (PubMed id 19734545)1, 4 Need A.C....Goldstein D.B. (2009)
    7. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (2008)
    8. Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. (PubMed id 18602463)1, 2 Nonis D....Auburger G. (2008)
    9. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (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. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6456 HGNC: 10831 AceView: SH3GL2 Ensembl:ENSG00000107295 euGenes: HUgn6456
    ECgene: SH3GL2 Kegg: 6456 H-InvDB: SH3GL2

    (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 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.)
    About This Section
    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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