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

SORBS2 Gene

protein-coding   GIFtS: 55
GCID: GC04M186506

Sorbin And SH3 Domain Containing 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)
About This Section

Aliases
Sorbin And SH3 Domain Containing 21 2     Arg Binding Protein 22
ARGBP22 3     Sorbin And SH3 Domain-Containing Protein 22
Arg/Abl-Interacting Protein 22 3     ArgBP23
Arg/Abl Interacting Protein1     KIAA07773
PRO06182     Sorbin3

External Ids:    HGNC: 240981   Entrez Gene: 84702   Ensembl: ENSG000001545567   UniProtKB: O948753   

Export aliases for SORBS2 gene to outside databases

Previous GC identifers: GC04M186884 GC04M186743 GC04M182259


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

Entrez Gene summary for SORBS2 Gene:
Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They
interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of
proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains
and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular
localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter
protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family
kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding
different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for SORBS2 Gene: 
SORBS2 (sorbin and SH3 domain containing 2) is a protein-coding gene. Diseases associated with SORBS2 include facioscapulohumeral muscular dystrophy, and muscular dystrophy. GO annotations related to this gene include cytoskeletal adaptor activity and structural constituent of cytoskeleton. An important paralog of this gene is SH3RF3.

UniProtKB/Swiss-Prot: SRBS2_HUMAN, O94875
Function: Adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL
kinases and actin cytoskeleton. Can form complex with ABL1 and CBL, thus promoting ubiquitination and degradation
of ABL1 or with AKT1 and PAK1, thus mediating AKT1-mediated activation of PAK1. Isoform 6 increases water and
sodium absorption in the intestine and gall-bladder

Gene Wiki entry for SORBS2 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_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SORBS2 gene promoter:
         SREBP-1a   Chx10   FOXD3   IRF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SORBS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SORBS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SORBS2


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

Entrez Gene cytogenetic band: 4q35.1   Ensembl cytogenetic band:  4q35.1   HGNC cytogenetic band: 4q35.1

SORBS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SORBS2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M186506:  view genomic region     (about GC identifiers)

Start:
186,506,598 bp from pter      End:
186,877,870 bp from pter
Size:
371,273 bases      Orientation:
minus 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: SRBS2_HUMAN, O94875 (See protein sequence)
Recommended Name: Sorbin and SH3 domain-containing protein 2  
Size: 1100 amino acids; 124108 Da
Subunit: Interacts with ABL, CBL, DNM1, DNM2, FLOT1, MLLT4/afadin, PTK2B/PYK2, SAPAP, SPTAN1, SYNJ1, SYNJ2,
VCL/vinculin, and WASF (By similarity). Interacts with ABL1/c-Abl, ABL2/v-Abl/Arg, ACTN, AKT1, CBL, PALLD and
PAK1
Subcellular location: Cytoplasm, perinuclear region. Note=Found at the Z-disk sarcomeres, stress fibers, dense
bodies and focal adhesion
Sequence caution: Sequence=BAA34497.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for SORBS2:
4IGZ (3D)    
Secondary accessions: A6NEK9 B3KPQ7 B7Z1G5 B7Z3X6 C9JKV9 D3DP62 D3DP63 E9PAS5 E9PAW4 G3XAI0
H7BXR4 J3KNZ5 O60592 O60593 Q96EX0
Alternative splicing: 12 isoforms:  O94875-1   O94875-2   O94875-3   O94875-4   O94875-5   O94875-6   O94875-7   O94875-8   
O94875-9   O94875-10   O94875-11   O94875-12   (Contains a phosphoserine at position 344. Contains a phosphoserine at position 346. Contains a phosphoserine at position 14)

Explore the universe of human proteins at neXtProt for SORBS2: NX_O94875

Explore proteomics data for SORBS2 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated by CBL
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O94875

  • SORBS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SORBS2 Protein Expression
    REFSEQ proteins (9 alternative transcripts): 
    NP_001139142.1  NP_001139143.1  NP_001139144.1  NP_001139145.1  NP_001139146.1  NP_001139147.1  NP_001257700.1  NP_003594.3  
    NP_066547.1  

    ENSEMBL proteins: 
     ENSP00000284776   ENSP00000396008   ENSP00000322182   ENSP00000397262   ENSP00000347852  
     ENSP00000377162   ENSP00000321983   ENSP00000401818   ENSP00000389995   ENSP00000391940  
     ENSP00000399048   ENSP00000408909   ENSP00000410483   ENSP00000405349   ENSP00000415680  
     ENSP00000397664   ENSP00000398335   ENSP00000410967   ENSP00000415637   ENSP00000416464  
     ENSP00000405092   ENSP00000396183   ENSP00000403417   ENSP00000408504   ENSP00000377158  
     ENSP00000410233   ENSP00000405646   ENSP00000405314   ENSP00000405432   ENSP00000415166  
     ENSP00000415392   ENSP00000407006   ENSP00000404430   ENSP00000402328   ENSP00000393258  
     ENSP00000412447   ENSP00000390162   ENSP00000389829   ENSP00000409158   ENSP00000411764  
     ENSP00000397482  

    Human Recombinant Protein Products for SORBS2: 
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    Novus Biologicals SORBS2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS9211900
    GO:0005886plasma membrane IEA--
    GO:0015629actin cytoskeleton TAS9211900
    GO:0030018Z disc NAS9211900
    GO:0048471perinuclear region of cytoplasm IEA--

    SORBS2 for ontologies           About GeneDecksing



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    Abcam antibodies for SORBS2
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    LSBio Antibodies in human, mouse, rat for SORBS2 

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    Browse ELISAs at Cloud-Clone Corp. 
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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:
     IPR000108 p67phox
     IPR011511 SH3_2
     IPR001452 SH3_domain
     IPR003127 Sorb
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry O94875

    ProtoNet protein and cluster: O94875

    2 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB003127 Sorbin-like


    UniProtKB/Swiss-Prot: SRBS2_HUMAN, O94875
    Similarity: Contains 3 SH3 domains
    Similarity: Contains 1 SoHo domain


    SORBS2 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: SRBS2_HUMAN, O94875
    Function: Adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL
    kinases and actin cytoskeleton. Can form complex with ABL1 and CBL, thus promoting ubiquitination and degradation
    of ABL1 or with AKT1 and PAK1, thus mediating AKT1-mediated activation of PAK1. Isoform 6 increases water and
    sodium absorption in the intestine and gall-bladder

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS9211900
    GO:0005515protein binding IPI15161933
    GO:0008093cytoskeletal adaptor activity TAS9211900
    GO:0008270zinc ion binding ----
    GO:0008307structural constituent of muscle TAS9211900
         
    SORBS2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SORBS2:
     Increased HPV18 LCR reporter a 

         1 MGI phenotypic allele for Sorbs2 (no phenotypes)

    SORBS2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SORBS2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SORBS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SORBS2 
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    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SORBS2
    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SORBS2 (see all 21):
    hsa-miR-320a hsa-miR-26a-2* hsa-miR-200a hsa-miR-141 hsa-miR-4325 hsa-miR-891b hsa-miR-3155b hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidSORBS2 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of SORBS2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SORBS2


    (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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SORBS2

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

    5/48 Interacting proteins for SORBS2 (O948752, 3 ENSP000002847764) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAK1Q131532, 3, ENSP000002785684MINT-61471 MINT-61474 MINT-61475 MINT-61478 MINT-61470 MINT-61472 MINT-61477 MINT-61473 I2D: score=2 STRING: ENSP00000278568
    AKT1P317492, 3, ENSP000002702024MINT-61344 MINT-61469 MINT-61464 MINT-61466 MINT-61479 MINT-61468 MINT-61467 MINT-61463 MINT-61346 MINT-61345 MINT-61462 MINT-61465 I2D: score=2 STRING: ENSP00000270202
    RPL9P329692, 3, ENSP000003460224MINT-63671 I2D: score=4 STRING: ENSP00000346022
    RPL9P7P329692, 3MINT-63671 I2D: score=4 
    RPL9P8P329692, 3MINT-63671 I2D: score=4 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    SORBS2 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

    SORBS2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SORBS2 (SRBS2)

    1 HMDB Compound for SORBS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    1 Novoseek inferred chemical compound relationship for SORBS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 31.1 1 9211900 (1)

    Search CenterWatch for drugs/clinical trials and news about SORBS2 / SRBS2

    (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 SORBS2 gene (9 alternative transcripts): 
    NM_001145670.1  NM_001145671.2  NM_001145672.1  NM_001145673.1  NM_001145674.1  NM_001145675.1  NM_001270771.1  NM_003603.6  
    NM_021069.4  

    Unigene Clusters for SORBS2:

    Sorbin and SH3 domain containing 2
    Hs.619806  [show with all ESTs], Hs.655143  [show with all ESTs]
    Unigene Representative Sequences: BC069025, NM_001270771
    18/65 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 65):
    ENST00000284776(uc003iyh.3 uc011ckx.2 uc003iym.3 uc003iyl.3)
    ENST00000437304 ENST00000319471(uc003iyn.1) ENST00000449407 ENST00000355634(uc011cky.1)
    ENST00000393528 ENST00000478461 ENST00000319454 ENST00000498125(uc003iyo.1)
    ENST00000480146 ENST00000451974 ENST00000438278 ENST00000487184 ENST00000445625
    ENST00000487836 ENST00000495932 ENST00000490562 ENST00000492104
    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SORBS2 (see all 21):
    hsa-miR-320a hsa-miR-26a-2* hsa-miR-200a hsa-miR-141 hsa-miR-4325 hsa-miR-891b hsa-miR-3155b hsa-miR-3163
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    Additional mRNA sequence: 

    AB018320.1 AF049884.1 AF049885.1 AK000782.1 AK056628.1 AK056758.1 AK225327.1 AK225812.1 
    AK293400.1 AK295742.1 AK296461.1 AK304653.1 BC011883.1 BC035329.1 BC122526.1 EF139852.1 

    24/54 DOTS entries (see all 54):

    DT.95296114  DT.121264072  DT.91765661  DT.95296147  DT.121263879  DT.454495  DT.102837396  DT.97846879 
    DT.95296143  DT.95182172  DT.121263881  DT.97799403  DT.121264079  DT.307436  DT.121264030  DT.121264032 
    DT.95255892  DT.121263920  DT.121263934  DT.121264103  DT.70103389  DT.95296176  DT.97778169  DT.121264081 

    24/394 AceView cDNA sequences (see all 394):

    CB162502 CN481856 F09349 AI968161 BQ447625 BC030082 AF049885 BM908682 
    AI638073 AI343000 AL707786 BM671810 R58128 CA394999 AV703957 AU279578 
    CA389104 CD678345 BC011883 AL134290 BI226140 AW955595 AI139775 AI659181 

    GeneLoc Exon Structure

    5/26 Alternative Splicing Database (ASD) splice patterns (SP) for SORBS2 (see all 26)    About this scheme

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

    ExUns: 13b ^ 14 ^ 15 ^ 16a · 16b · 16c · 16d ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^
    SP1:        -     -                       -           -     -     -                                   -     -     -           -                             -   
    SP2:        -     -                       -           -     -     -                                   -     -     -     -                                   -   
    SP3:                                                                                -                 -     -     -           -                             -   
    SP4:                                                                                                                                                            
    SP5:        -     -                                                                                                                                             

    ExUns: 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39a · 39b
    SP1:  -                                   -           -                     
    SP2:  -                                   -                                 
    SP3:  -                                                                     
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for SORBS2

    (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

    SORBS2 expression in normal human tissues (normalized intensities)      SORBS2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTAAACACA
    SORBS2 Expression
    About this image


    SORBS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 7 entries
             Postnatal Endothelial Cells Blood Brain Barrier
             PureStem endothelial progenitor 30-SM2-1
             Endothelial-like cells ( Derivation and purification of endothelial precursor cells...
             Human Lymphatic Endothelial Cells (HLEC)   
     
     Bone (Muscoskeletal System)    fully expand to see all 7 entries
             Zeugopod Growth Plate
             HyStem+TGFbeta3+GDF5-induced SK11 cells
             Normal Human osteoblasts (NHOST)   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 6 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
             Human Annulus Fibrosus Cells (HAFC)   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Postnatal Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
             Human Brain Vascular Pericyte (HBVP)   
             brain/forebrain/telencephalon   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiomyocyte-like progenitor cells ( Derivation of cardiomyocytes from pluripotent...
             Coronary Artery Smooth Muscle Cells (CASMC)   
             heart/ventricle   

    See SORBS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SORBS2

    SOURCE GeneReport for Unigene clusters: Hs.619806 Hs.655143

    UniProtKB/Swiss-Prot: SRBS2_HUMAN, O94875
    Tissue specificity: Abundantly expressed in heart. In cardiac muscle cells, located in the Z-disks of sarcomere.
    Also found, but to a lower extent, in small and large intestine, pancreas, thymus, colon, spleen, prostate,
    testis, brain, ovary and epithelial cells

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SORBS2 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sorbs21 , 5 sorbin and SH3 domain containing 21, 5 86.15(n)1
    89.57(a)1
      8 (25.44 cM)5
    2342141  NM_001205219.11  NP_001192148.11 
     455077945 
    chicken
    (Gallus gallus)
    Aves SORBS21 sorbin and SH3 domain containing 2 77.86(n)
    80.29(a)
      422719  XM_420674.3  XP_420674.2 
    lizard
    (Anolis carolinensis)
    Reptilia SORBS26
    Uncharacterized protein
    69(a)
    1 ↔ 1
    5(112611439-112730751)
    zebrafish
    (Danio rerio)
    Actinopterygii sorbs2b1 sorbin and SH3 domain containing 2b 61.83(n)
    59.71(a)
      563408  XM_686765.4  XP_691857.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CAP6
    CAP
    9(a)
    1 → many
    2R(6156528-6194529)
    worm
    (Caenorhabditis elegans)
    Secernentea sorb-16
    Protein SORB-1, isoform a
    15(a)
    1 → many
    IV(13750336-13770607)


    ENSEMBL Gene Tree for SORBS2 (if available)
    TreeFam Gene Tree for SORBS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SORBS2 gene
    SH3RF32  SH3RF22  SORBS32  SORBS12  SH3RF12  SH3D192  
    5 SIMAP similar genes for SORBS2 using alignment to 30 protein entries:     SRBS2_HUMAN (see all proteins):
    SH3GL2    ARHGEF7    SORBS3    SH3GL1    DKFZp686N08224

    SORBS2 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

    10/8973 SNPs in SORBS2 are shown (see all 8973)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs106064851,2
    C--182276564(+) TTGGCAG/-AGTTT 9 -- int11Minor allele frequency- -:0.50CSA 2
    rs709625831,2
    C--182282310(+) AAGTAA/-AAATA 9 -- int11Minor allele frequency- -:0.00NA 2
    rs339283211,2
    C--182282314(+) TAAAA-/T/TAT 
            
    ATACT
    18 -- int1 cds10--------
    rs2012013101,2
    C--182282314(+) TAAAA-/TATACTTA 9 -- int10--------
    rs2011804531,2
    --182282316(+) AAATA-/TACT  
            
    TACTT
    9 -- int10--------
    rs339799631,2
    C--182282318(+) ATATA-/CT    
       
    /TACT
    TACTT
    9 -- int11NA 2
    rs759689521,2
    C--182282318(+) ATATAC/TTTACT 9 -- int10--------
    rs747577221,2
    C--182282319(+) TATACA/TTACTT 9 -- int10--------
    rs1480569041,2
    C--182287313(+) AGCCG-/GGTGTGGT 9 -- int10--------
    rs105976641,2
    C--182320251(+) CACAC-/ATACACA 9 -- int10--------

    HapMap Linkage Disequilibrium report for SORBS2 (186506598 - 186756598 bp, first 250kb of SORBS2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/26 variations for SORBS2 (see all 26):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2728916CNV Deletion23290073
    esv2728922CNV Deletion23290073
    esv2672215CNV Deletion23128226
    esv2728920CNV Deletion23290073
    esv2728921CNV Deletion23290073
    esv4636CNV Deletion18987735
    esv2728925CNV Deletion23290073
    esv2728923CNV Deletion23290073
    esv2728919CNV Deletion23290073
    dgv907e201CNV Deletion23290073

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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
    6 diseases for SORBS2:    About MalaCards
    facioscapulohumeral muscular dystrophy    muscular dystrophy    osteosarcoma    hepatocellular carcinoma
    pancreatitis    prostatitis


    SORBS2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SORBS2
    Human Genome Epidemiology (HuGE) Navigator: SORBS2 (2 documents)

    Export disorders for SORBS2 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 SORBS2 gene, integrated from 9 sources (see all 52):
    (articles sorted by number of sources associating them with SORBS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ArgBP2, a multiple Src homology 3 domain-containing, Arg/Abl- interacting protein, is phosphorylated in v-Abl-transformed cells and localized in stress fibers and cardiocyte Z-disks. (PubMed id 9211900)1, 2, 3, 9 Wang B.... Kruh G.D. (1997)
    2. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2, 3 Nagase T.... Ohara O. (1998)
    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. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    5. Involvement of palladin and alpha-actinin in targeting of the Abl/Arg kinase adaptor ArgBP2 to the actin cytoskeleton. (PubMed id 16125169)1, 2 Roenty M.... Carpen O. (2005)
    6. ArgBP2gamma interacts with Akt and p21-activated kinase-1 and promotes cell survival. (PubMed id 15784622)1, 2 Yuan Z.Q....Cheng J.Q. (2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Cbl-ArgBP2 complex mediates ubiquitination and degradation of c-Abl. (PubMed id 12475393)1, 2 Soubeyran P....Dikic I. (2003)
    9. Human sorbin is generated via splicing of an alternative transcript from the ArgBP2 gene locus. (PubMed id 15949647)1, 9 Hand D. and Eiden L.E. (2005)
    10. Recruitment of Pyk2 and Cbl to lipid rafts mediates signals important for actin reorganization in growing neurites. (PubMed id 15128873)1, 9 Haglund K....Dikic I. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8470 HGNC: 24098 AceView: ARGBP2 Ensembl:ENSG00000154556 euGenes: HUgn8470
    ECgene: SORBS2 H-InvDB: SORBS2

    (According to HUGE)
    About This Section
    HUGE: KIAA0777

    (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 SORBS2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SORBS2 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 SORBS2 gene:
    Search GeneIP for patents involving SORBS2

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



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