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SORBS3 Gene

protein-coding   GIFtS: 58
GCID: GC08P022409

Sorbin And SH3 Domain Containing 3

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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
Sorbin And SH3 Domain Containing 31 2     SH3D42 5
SCAM12 3 5     vinexin2
Sorbin And SH3 Domain-Containing Protein 32 3     Vinexin Beta (SH3-Containing Adaptor Molecule-1)2
SCAM-12 3     SH3-Containing Adapter Molecule 13

External Ids:    HGNC: 309071   Entrez Gene: 101742   Ensembl: ENSG000001208967   OMIM: 6107955   UniProtKB: O605043   

Export aliases for SORBS3 gene to outside databases

Previous GC identifers: GC08P022466 GC08P020951


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SORBS3 Gene:
This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this
protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion
and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Nov 2011)

GeneCards Summary for SORBS3 Gene:
SORBS3 (sorbin and SH3 domain containing 3) is a protein-coding gene. GO annotations related to this gene include vinculin binding and transcription factor binding. An important paralog of this gene is SH3RF3.

UniProtKB/Swiss-Prot: VINEX_HUMAN, O60504
Function: Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays
a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its
third SH3 domain

Gene Wiki entry for SORBS3 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 at NCBI GenBank:
NC_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SORBS3 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-1   E2F   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSORBS3 promoter sequence
   Search Chromatin IP Primers for SORBS3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SORBS3


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

Entrez Gene cytogenetic band: 8p21.3   Ensembl cytogenetic band:  8p21.3   HGNC cytogenetic band: 8p21.3

SORBS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SORBS3 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P022409:  view genomic region     (about GC identifiers)

Start:
22,402,499 bp from pter      End:
22,433,301 bp from pter
Size:
30,803 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: VINEX_HUMAN, O60504 (See protein sequence)
Recommended Name: Vinexin  
Size: 671 amino acids; 75341 Da
Subunit: Interacts with DLG5 through its third SH3 domain (By similarity). Interacts with vinculin by the first
two SH3 domains and the proline rich region of vinculin. Binds to SOS (guanine nucleotide exchange factor of RAS
and RAC), through its third SH3 domain. The formation of this complex is down-regulated by phosphorylation of
SOS. Interacts with INPPL1/SHIP2, SAFB2, SOCS7 and SRCIN1. Interacts with FASLG. Interacts with MAPK1/ERK2 (By
similarity)
4 PDB 3D structures from and Proteopedia for SORBS3:
2CT3 (3D)        2DLM (3D)        2NWM (3D)        2YUP (3D)    
Secondary accessions: Q5BJE4 Q6NX54 Q96FY4 Q9UQE4
Alternative splicing: 2 isoforms:  O60504-1   O60504-2   

Explore the universe of human proteins at neXtProt for SORBS3: NX_O60504

Explore proteomics data for SORBS3 at MOPED

Post-translational modifications: 

  • Phosphorylated at Ser-530 by MAPK1/ERK2 during cell spreading (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SORBS3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001018003.1  NP_005766.3  

    ENSEMBL proteins: 
     ENSP00000240123   ENSP00000429723   ENSP00000429685   ENSP00000428102   ENSP00000428051  
     ENSP00000431128   ENSP00000429887   ENSP00000429764   ENSP00000429058   ENSP00000429479  
     ENSP00000428678   ENSP00000428327   ENSP00000429747   ENSP00000428930   ENSP00000408476  
    Reactome Protein details: O60504

    SORBS3 Human Recombinant Protein Products:

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    Novus Biologicals SORBS3 Protein
    Novus Biologicals SORBS3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SORBS3

     
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    Cloud-Clone Corp. ELISAs for SORBS3
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    Search eBioscience for ELISAs for SORBS3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001452 SH3_domain
     IPR003127 Sorb
     IPR028510 Vinexin

    Graphical View of Domain Structure for InterPro Entry O60504

    ProtoNet protein and cluster: O60504

    1 Blocks protein domain: IPB003127 Sorbin-like

    UniProtKB/Swiss-Prot: VINEX_HUMAN, O60504
    Similarity: Contains 3 SH3 domains
    Similarity: Contains 1 SoHo domain


    Find genes that share domains with SORBS3           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VINEX_HUMAN, O60504
    Function: Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays
    a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its
    third SH3 domain

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS9885244
    GO:0005515protein binding IPI12660241
    GO:0008134transcription factor binding IEA--
    GO:0017166vinculin binding IPI9885244
         
    Find genes that share ontologies with SORBS3           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for SORBS3:
     Decreased cilium length  Decreased cilium length after   Decreased nuclei size in G2M 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sorbs3):
     cellular  homeostasis/metabolism  reproductive system 

    Find genes that share phenotypes with SORBS3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SORBS3: Sorbs3tm1Kmor Sorbs3tm1Kiok

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SORBS3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SORBS3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SORBS3

    miRNA
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    miRTarBase miRNAs that target SORBS3:
    hsa-mir-1229-3p (MIRT036259), hsa-mir-744-5p (MIRT037629), hsa-mir-877-5p (MIRT037354)

    Block miRNA regulation of human, mouse, rat SORBS3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SORBS3 (see all 12):
    hsa-miR-1236 hsa-miR-133b hsa-miR-520a-5p hsa-miR-3125 hsa-miR-3916 hsa-miR-455-3p hsa-miR-9 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidSORBS3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SORBS3

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): SORBS3 (NM_005775)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SORBS3


    (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
    VINEX_HUMAN, O60504: Isoform Alpha: Cell junction (By similarity). Cytoplasm, cytoskeleton (By similarity).
    Note=Localized at cell-extracellular matrix junctions (By similarity). Both isoforms were localized at focal
    adhesion and cell-cell adhesion sites
    VINEX_HUMAN, O60504: Isoform Beta: Cell junction (By similarity). Nucleus. Cytoplasm, cytoskeleton (By
    similarity). Note=Localized at cell-extracellular matrix junctions (By similarity). Both isoforms were localized
    at focal adhesion and cell-cell adhesion sites, vinexin beta was also found in the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0005925colocalizes with focal adhesion IDA9885244

    Find genes that share ontologies with SORBS3           About GenesLikeMe


    (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 SORBS3 About    
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Muscle contraction0.61
    Smooth Muscle Contraction0.47


    Find genes that share SuperPaths with SORBS3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SORBS3
        Smooth Muscle Contraction


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SORBS3
    Interactions:

        GeneGlobe Interaction Network for SORBS3

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

    Selected Interacting proteins for SORBS3 (O605041, 2, 3 ENSP000002401234) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005191, 2, 3, ENSP000003614234EBI-1222956,EBI-375543 MINT-2833733 MINT-2833716 MINT-2833332 MINT-2833234 MINT-2833514 MINT-2833758 I2D: score=1 STRING: ENSP00000361423
    SOCS7O145122, 3, ENSP000003306594MINT-56622 MINT-56620 MINT-56615 I2D: score=2 STRING: ENSP00000330659
    RARGP136311, 2, ENSP000003326954EBI-1222956,EBI-2568901 MINT-7302655 MINT-7302678 STRING: ENSP00000332695
    RTKNQ9BST91, 2, 3, ENSP000002724304EBI-741237,EBI-446694 MINT-7215715 MINT-7215651 MINT-7215594 MINT-7215608 MINT-7215695 MINT-7215670 I2D: score=1 STRING: ENSP00000272430
    ENSG00000206379O759553, ENSP000003728734I2D: score=1 STRING: ENSP00000372873
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006936muscle contraction TAS--
    GO:0007015actin filament organization ----
    GO:0007155cell adhesion TAS9885244
    GO:0031589cell-substrate adhesion IEA--

    Find genes that share ontologies with SORBS3           About GenesLikeMe



    (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 SORBS3 (VINEX)

    3 HMDB Compounds for SORBS3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SORBS3 gene (2 alternative transcripts): 
    NM_001018003.2  NM_005775.4  

    Unigene Cluster for SORBS3:

    Sorbin and SH3 domain containing 3
    Hs.528572  [show with all ESTs]
    Unigene Representative Sequence: BC091514
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000522037 ENST00000523941 ENST00000240123(uc011kzk.1 uc003xbv.3)
    ENST00000517500 ENST00000517535 ENST00000523402 ENST00000520563 ENST00000524057
    ENST00000518512 ENST00000520574 ENST00000521787 ENST00000523740 ENST00000522315
    ENST00000519453 ENST00000523900 ENST00000518912 ENST00000523965 ENST00000521554

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SORBS3 (see all 12):
    hsa-miR-1236 hsa-miR-133b hsa-miR-520a-5p hsa-miR-3125 hsa-miR-3916 hsa-miR-455-3p hsa-miR-9 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidSORBS3 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat SORBS3
      QuantiFast Probe-based Assays in human, mouse, rat SORBS3

    Additional mRNA sequence: 

    AF037261.1 AF064807.1 AK303950.1 BC004314.1 BC010146.2 BC067260.1 BC091514.1 

    Selected DOTS entries (see all 30):

    DT.92433783  DT.100038429  DT.100828958  DT.120628482  DT.91926199  DT.92433786  DT.100729185  DT.120628411 
    DT.120628518  DT.75103734  DT.100828971  DT.100828978  DT.120628451  DT.120628525  DT.92433787  DT.95140503 
    DT.100772845  DT.100828959  DT.100828964  DT.100828965  DT.100828973  DT.120628449  DT.40202046  DT.40222123 

    Selected AceView cDNA sequences (see all 306):

    AL041026 CR598111 BE707490 BU509242 BQ941725 CR622445 AW327405 BQ270881 
    BQ933093 BC067260 BG419471 BF221857 BU730926 AA294821 BG763775 BU071310 
    AI126966 CR610210 AL041419 BF438188 CR605936 CB321682 BF515469 BM665038 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SORBS3 (see all 24)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b ·
    SP1:                          -                       -           -     -                                   -     -     -     -                 -     -     -   
    SP2:                                                                                                                                                            
    SP3:                                                                    -                                   -     -     -     -                 -     -     -   
    SP4:                                                                                                                                            -     -     -   
    SP5:                                                                                                                                                            

    ExUns: 15c · 15d · 15e · 15f ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c ^ 21a · 21b · 21c ^ 22a · 22b · 22c · 22d · 22e · 22f · 22g ^
    SP1:  -     -     -           -     -     -     -                                                                                                               
    SP2:                          -     -     -     -                                                                                                               
    SP3:  -     -     -                                                                                                                                             
    SP4:  -     -     -           -     -     -     -                       -     -                                                                                 
    SP5:                          -     -     -     -     -     -                                                                                                   

    ExUns: 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b
    SP1:  -                                             
    SP2:  -                                             
    SP3:                                                
    SP4:                                                
    SP5:  -                                             


    ECgene alternative splicing isoforms for SORBS3

    (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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    SORBS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAACTTGGA
    SORBS3 Expression
    About this image


    SORBS3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
     
     Lung (Respiratory System)
     
     Ovary (Reproductive System)
    SORBS3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SORBS3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.528572

    UniProtKB/Swiss-Prot: VINEX_HUMAN, O60504
    Tissue specificity: Both isoforms are expressed in different tissues like heart, placenta, brain, skeletal muscle
    and pancreas. Isoform beta is especially found in liver

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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 SORBS3 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sorbs31 , 5 sorbin and SH3 domain containing 31, 5 83.66(n)1
    82.81(a)1
      14 (36.27 cM)5
    204101  NM_011366.31  NP_035496.11 
     701804685 
    lizard
    (Anolis carolinensis)
    Reptilia SORBS36
    sorbin and SH3 domain containing 3
    67(a)
    1 ↔ 1
    GL343443.1(394065-411678)
    zebrafish
    (Danio rerio)
    Actinopterygii sorbs31 sorbin and SH3 domain containing 3 52.02(n)
    48.79(a)
      541478  NM_001014290.1  NP_001014312.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CAP6
    CAP
    7(a)
    1 → many
    2R(6156528-6194529)


    ENSEMBL Gene Tree for SORBS3 (if available)
    TreeFam Gene Tree for SORBS3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SORBS3 gene
    SH3RF32  SH3RF22  SORBS12  SH3RF12  SORBS22  SH3D192  
    17 SIMAP similar genes for SORBS3 using alignment to 15 protein entries:     VINEX_HUMAN (see all proteins):
    ARHGAP4    GRB2    VAV3    VAV1    SH3GL2    DOCK2
    SH3RF3    ARHGEF7    SORBS2    SORBS1    ITSN1    GRAP2
    ITSN2    DKFZp686N08224    STAM    ABI1    SH3GL1

    Find genes that share paralogs with SORBS3           About GenesLikeMe



    (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 SORBS3 (see all 703)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2074689981,2
    Cuntested122666227(+) GTGCCC/TGTGAT 2 P syn10--------
    rs353003411,2
    C--22416076(+) ACCCTG/-GGGGT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs359639221,2
    C--22417569(+) AAAAAA/-GAAGA 1 -- int11Minor allele frequency- -:0.00NA 2
    rs38343731,2
    C--22420959(+) CAGGGG/-AGCAG 1 -- int11Minor allele frequency- -:0.50NA 2
    rs715468191,2
    C--22425361(+) CTTTC-/T/TT  
            
    TTTTT
    2 -- int11NA 2
    rs356687041,2
    C--22425375(+) TTTTT-/T/TT  
            
    GGAGA
    2 -- int11NA 2
    rs38306951,2
    C--22426651(-) ATGAA-/GAAAGG 2 -- int11Minor allele frequency- G:0.00NA 2
    rs574255511,2
    C--22430651(+) AGCCC-/AACCCT 2 -- int10--------
    rs106267901,2
    C--22431923(+) GACTCTG/-TGCTG 2 -- int13Minor allele frequency- -:0.00NA CSA 6
    rs3723787281,2
    C--22431924(+) ACTCT-/TGGCTGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for SORBS3 (22402499 - 22433301 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SORBS3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv890675CNV Loss21882294
    dgv7762n71CNV Loss21882294
    nsv890673CNV Loss21882294
    dgv451n21CNV Loss19592680
    essv21913CNV CNV17122850
    essv19243CNV CNV17122850

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SORBS3

    (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: 610795    OMIM disorders: --


    Find genes that share disorders with SORBS3           About GenesLikeMe

    Genetic Association Database (GAD): SORBS3

    Export disorders for SORBS3 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 SORBS3 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with SORBS3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Vinexin: a novel vinculin-binding protein with multiple SH3 domains enhances actin cytoskeletal organization. (PubMed id 9885244)1, 2, 3 Kioka N.... Aota S. (J. Cell Biol. 1999)
    2. Vinexin forms a signaling complex with Sos and modulates epidermal growth factor-induced c-Jun N-terminal kinase/stress-activated protein kinase activities. (PubMed id 10585480)1, 2, 9 Akamatsu M.... Kioka N. (J. Biol. Chem. 1999)
    3. The suppressor of cytokine signaling (SOCS)-7 interacts with the actin cytoskeleton through vinexin. (PubMed id 15242778)1, 2, 9 Martens N.... Hooghe-Peters E.L. (Exp. Cell Res. 2004)
    4. SAFB2, a new scaffold attachment factor homolog and estrogen receptor corepressor. (PubMed id 12660241)1, 2, 9 Townson S.M.... Oesterreich S. (J. Biol. Chem. 2003)
    5. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M.... Janssen O. (BMC Immunol. 2009)
    6. Characterization of a multidomain adaptor protein, p140Cap, as part of a pre-synaptic complex. (PubMed id 18662323)1, 2 Ito H.... Nagata K. (J. Neurochem. 2008)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. SHIP2 interaction with the cytoskeletal protein Vinexin. (PubMed id 16302969)1, 2 Paternotte N.... Erneux C. (FEBS J. 2005)
    10. 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. (Genome Res. 2004)

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

      Query String
    PubMed
    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: 10174 HGNC: 30907 AceView: SCAM-1 Ensembl:ENSG00000120896 euGenes: HUgn10174
    ECgene: SORBS3 H-InvDB: SORBS3

    (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 SORBS3 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 SORBS3 gene:
    Search GeneIP for patents involving SORBS3

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



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