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SNTB2 Gene

protein-coding   GIFtS: 55
GCID: GC16P069221

Syntrophin, Beta 2 (Dystrophin-Associated Protein A1, 59kDa,...

(Previous names: syntrophin, beta 2 (dystrophin-associated protein A1, 59kD,...)
(Previous symbols: SNT2B2, SNTL, D16S2531E)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Syntrophin, Beta 2 (Dystrophin-Associated Protein A1, 59kDa, Basic
Component 2)1 2
     EST252632
SNT2B21 2 3 5     beta-2-syntrophin2
SNTL1 2 3 5     Dystrophin-Associated Protein A1, 59kD, Basic Component 22
D16S2531E1 2 3     syntrophin-32
59 KDa Dystrophin-Associated Protein A1 Basic Component 22 3     Syntrophin-33
SNT32 3     Syntrophin-like3
Syntrophin, Beta 2 (Dystrophin-Associated Protein A1, 59kD, Basic
Component 2)1
     

External Ids:    HGNC: 111691   Entrez Gene: 66452   Ensembl: ENSG000001688077   OMIM: 6000275   UniProtKB: Q134253   

Export aliases for SNTB2 gene to outside databases

Previous GC identifers: GC16P059906 GC16P069598 GC16P068956 GC16P068997 GC16P067778 GC16P055093


(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 SNTB2 Gene:
Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is
missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy
patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and
dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two
other structurally-related genes. (provided by RefSeq, Jul 2008)

GeneCards Summary for SNTB2 Gene:
SNTB2 (syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)) is a protein-coding gene. Diseases associated with SNTB2 include duchenne muscular dystrophy, and becker muscular dystrophy. GO annotations related to this gene include phospholipid binding and calmodulin binding. An important paralog of this gene is SNTA1.

UniProtKB/Swiss-Prot: SNTB2_HUMAN, Q13425
Function: Adapter protein that binds to and probably organizes the subcellular localization of a variety of
membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex.
May play a role in the regulation of secretory granules via its interaction with PTPRN

Gene Wiki entry for SNTB2 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_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNTB2 gene promoter:
         p53   SREBP-1c   POU6F1 (c2)   CUTL1   POU3F2   SREBP-1b   FOXL1   POU2F1   SREBP-1a   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNTB2 promoter sequence
   Search Chromatin IP Primers for SNTB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNTB2


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

SNTB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNTB2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P069221:  view genomic region     (about GC identifiers)

Start:
69,221,032 bp from pter      End:
69,342,955 bp from pter
Size:
121,924 bases      Orientation:
plus strand

1 alternative location:
Chr16-,NW_003315946 16,258-42,683     

(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: SNTB2_HUMAN, Q13425 (See protein sequence)
Recommended Name: Beta-2-syntrophin  
Size: 540 amino acids; 57950 Da
Subunit: Monomer and homodimer (Probable). Interacts with the other members of the syntrophin family: SNTA1 and
SNTB1; and with the sodium channel proteins SCN4A and SCN5A. Interacts with SAST, MAST205, microtubules and
microtubule-associated proteins (By similarity). Interacts with the dystrophin protein DMD and related proteins
DTNA and UTRN, and with the neuroregulin receptor ERBB4. Interacts with PTPRN when phosphorylated, protecting
PTPRN from protein cleavage by CAPN1. Dephosphorylation upon insulin stimulation disrupts the interaction with
PTPRN and results in the cleavage of PTPRN
1 PDB 3D structure from and Proteopedia for SNTB2:
2VRF (3D)    
Secondary accessions: Q9BY09
Alternative splicing: 2 isoforms:  Q13425-1   Q13425-2   (Lacks domains required for interaction with dystrophin related proteins. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for SNTB2: NX_Q13425

Explore proteomics data for SNTB2 at MOPED

Post-translational modifications: 

  • Phosphorylated. Partially dephosphorylated upon insulin stimulation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SNTB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006741.1  
    ENSEMBL proteins: 
     ENSP00000338191   ENSP00000436443   ENSP00000462765   ENSP00000432201   ENSP00000353686  

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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:
     IPR015482 Syntrophin
     IPR001478 PDZ
     IPR028550 SNTB2
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry Q13425

    ProtoNet protein and cluster: Q13425

    2 Blocks protein domains:
    IPB001478 PDZ/DHR/GLGF domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: SNTB2_HUMAN, Q13425
    Domain: The PH 1 domain mediates the oligomerization in a calcium dependent manner (By similarity)
    Domain: The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The
    association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to
    the membrane (By similarity)
    Domain: The SU domain binds calmodulin in a calcium-dependent manner (By similarity)
    Similarity: Belongs to the syntrophin family
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 2 PH domains
    Similarity: Contains 1 SU (syntrophin unique) domain


    SNTB2 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: SNTB2_HUMAN, Q13425
    Function: Adapter protein that binds to and probably organizes the subcellular localization of a variety of
    membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex.
    May play a role in the regulation of secretory granules via its interaction with PTPRN

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI12763866
    GO:0005516calmodulin binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    SNTB2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SNTB2:
     Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sntb2):
     behavior/neurological  nervous system  normal 

    SNTB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sntb2tm1Maad for SNTB2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SNTB2
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    miRNA
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    miRTarBase miRNAs that target SNTB2:
    hsa-mir-155-5p (MIRT020905), hsa-mir-34a-5p (MIRT047392), hsa-mir-10a-5p (MIRT047587), hsa-mir-30b-5p (MIRT023438), hsa-mir-25-3p (MIRT050332)

    Block miRNA regulation of human, mouse, rat SNTB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SNTB2 (see all 142):
    hsa-miR-140-5p hsa-miR-520f hsa-miR-361-5p hsa-miR-106a hsa-miR-605 hsa-miR-519a hsa-miR-3622b-3p hsa-miR-149
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    (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
    SNTB2_HUMAN, Q13425: Membrane. Cytoplasmic vesicle, secretory vesicle membrane; Peripheral membrane protein. Cell
    junction (By similarity). Cytoplasm, cytoskeleton. Note=Membrane-associated. In muscle, it is exclusively
    localized at the neuromuscular junction (By similarity). In insulinoma cell line, it is enriched in secretory
    granules
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane4
    mitochondrion2
    nucleus2
    cytosol1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA19786618
    GO:0005874microtubule IEA--
    GO:0016010dystrophin-associated glycoprotein complex TAS8576247
    GO:0016020membrane TAS8576247
    GO:0030054cell junction IEA--

    SNTB2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SNTB2
    Interactions:

        Search GeneGlobe Interaction Network for SNTB2

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

    Selected Interacting proteins for SNTB2 (Q134252, 3 ENSP000003381914) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCA1O954772, 3, ENSP000003638684MINT-59502 MINT-59503 MINT-59501 I2D: score=4 STRING: ENSP00000363868
    PTPRNQ168493, ENSP000002957184I2D: score=4 STRING: ENSP00000295718
    MAST1Q9Y2H93, ENSP000002514724I2D: score=3 STRING: ENSP00000251472
    UTRNP469393, ENSP000003565154I2D: score=3 STRING: ENSP00000356515
    DGKZQ135743, ENSP000003203404I2D: score=2 STRING: ENSP00000320340
    About this table

    (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
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    Browse Tocris compounds for SNTB2

    2 HMDB Compounds for SNTB2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    SodiumSodium (see all 2)7440-23-5--



    (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 SNTB2 gene (2 alternative transcripts): 
    NM_006750.3  NM_130845.1  

    Unigene Cluster for SNTB2:

    Syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)
    Hs.461117  [show with all ESTs]
    Unigene Representative Sequence: NM_006750
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000336278(uc002ewu.3 uc021tkg.1) ENST00000467311 ENST00000524887
    ENST00000525632 ENST00000360496 ENST00000528525
    miRNA
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    hsa-miR-140-5p hsa-miR-520f hsa-miR-361-5p hsa-miR-106a hsa-miR-605 hsa-miR-519a hsa-miR-3622b-3p hsa-miR-149
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    Additional mRNA sequence: 

    BC031058.1 BC035134.1 BC036429.1 BC048215.1 U40572.1 

    9 DOTS entries:

    DT.317014  DT.97801389  DT.92423026  DT.443412  DT.100033800  DT.95159768  DT.120681056  DT.204175 
    DT.92063784 

    Selected AceView cDNA sequences (see all 648):

    BM554319 CA447535 AI337911 AA989448 NM_130845 BF528086 AA176853 AF255952 
    AI084075 BU849977 BU507064 BQ058196 AI217642 AA035252 BQ953612 AL555949 
    AA732555 CN483877 BM549972 BX474222 BM704904 AA366026 F26818 BQ278672 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SNTB2 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for SNTB2

    (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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    SNTB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCTGCACT
    SNTB2 Expression
    About this image

    SNTB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNTB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.461117

    UniProtKB/Swiss-Prot: SNTB2_HUMAN, Q13425
    Tissue specificity: Ubiquitous. Isoform 1 is the predominant isoform. Weak level of isoform 2 is present in all
    tested tissues, except in liver and heart where it is highly expressed

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SNTB2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sntb21 , 5 syntrophin, basic 21, 5 91.18(n)1
    96.53(a)1
      8 (53.38 cM)5
    206501  NM_009229.41  NP_033255.11 
     1069357505 
    chicken
    (Gallus gallus)
    Aves SNTB21 syntrophin, beta 2 (dystrophin-associated protein A1, more 76.41(n)
    83.64(a)
      769654  XM_001232941.3  XP_001232942.2 
    lizard
    (Anolis carolinensis)
    Reptilia SNTB26
    syntrophin, beta 2 (dystrophin-associated protein ...
    82(a)
    1 ↔ 1
    GL343643.1(1174-17884)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sntb21 syntrophin, beta 2 (dystrophin-associated protein A1, more 64.33(n)
    62.32(a)
      100145613  NM_001127021.1  NP_001120493.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003313231 beta-2-syntrophin-like 62.54(n)
    62.28(a)
      100331323  XM_002666912.3  XP_002666958.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Syn13 cytoskeletal protein binding 38(a)   78F1   --
    worm
    (Caenorhabditis elegans)
    Secernentea stn-13 beta1-syntrophin 39(a)   I(9509379-9512877)   --


    ENSEMBL Gene Tree for SNTB2 (if available)
    TreeFam Gene Tree for SNTB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNTB2 gene
    SNTA12  SNTB12  SNTG12  SNTG22  GOPC2  
    13 SIMAP similar genes for SNTB2 using alignment to 5 protein entries:     SNTB2_HUMAN (see all proteins):
    C8orf44    A4GALT    ZNF506    CIR1    PSMD8    C8orf17
    DLG4    STARD10    SNTB1    VPS53    LOC100287164    SNTA1
    LZLP

    SNTB2 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 SNTB2 (see all 2190)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1865639071,2
    C--69219285(+) AGCTGC/GAATTA 1 -- us2k10--------
    rs1897207001,2
    --69219691(+) ACCCCA/GGGTGA 1 -- us2k10--------
    rs104009271,2
    C--69219786(+) tctttC/Tttttt 1 -- us2k1 trp31Minor allele frequency- T:0.00NA 2
    rs713847391,2
    C--69219790(+) TCTTTC/TTTTTT 1 -- us2k12Minor allele frequency- T:0.00NA 4
    rs1120051811,2
    C,F--69219893(+) AAGCAG/ATTCTC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1830896591,2
    --69220045(+) TCAGCA/CTCTCA 1 -- us2k10--------
    rs1119648921,2
    C,F--69220080(+) CCACCG/ACGCCC 1 -- us2k13Minor allele frequency- A:0.05NA EA 242
    rs1141223441,2
    F--69220237(+) CCAGTC/TCCTTG 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1413139721,2
    --69220241(+) TCCCTG/TGTAAT 1 -- us2k10--------
    rs285697941,2
    C,F--69220451(+) TTTGCT/CTGAGC 1 -- us2k110Minor allele frequency- C:0.16NA EA WA 520

    HapMap Linkage Disequilibrium report for SNTB2 (69221032 - 69342955 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for SNTB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714661CNV Deletion23290073
    esv2180832CNV Deletion18987734
    esv2714663CNV Deletion23290073
    esv993295CNV Insertion20482838
    esv1482035CNV Insertion17803354
    nsv1851CNV Insertion18451855
    nsv509628CNV Insertion20534489
    nsv103191CNV Loss16902084
    nsv906820CNV Loss21882294
    nsv819598CNV Loss19587683

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SNTB2
    DNA2.0 Custom Variant and Variant Library Synthesis for SNTB2

    (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: 600027    OMIM disorders: --

    10 diseases for SNTB2:    
    About MalaCards
    duchenne muscular dystrophy    becker muscular dystrophy    north american indian childhood cirrhosis    muscular dystrophy
    insulinoma    myopathy    t-cell leukemia    pancreatitis
    leukemia    neuronitis


    SNTB2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SNTB2

    Export disorders for SNTB2 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 SNTB2 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with SNTB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. (PubMed id 8576247)1, 2, 3, 9 Ahn A.H.... Kunkel L.M. (J. Biol. Chem. 1996)
    2. Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. (PubMed id 8183929)1, 3, 9 Ahn A.H.... Kunkel L.M. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    4. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    5. 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)
    6. Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. (PubMed id 12899872)1, 4 Jones K.J....North K.N. (Neuromuscul. Disord. 2003)
    7. Dephosphorylation of beta2-syntrophin and Ca2+/mu-calpain-mediated cleavage of ICA512 upon stimulation of insulin secretion. (PubMed id 11483505)1, 2 Ort T....Solimena M. (EMBO J. 2001)
    8. The neuregulin receptor ErbB-4 interacts with PDZ-containing proteins at neuronal synapses. (PubMed id 10725395)1, 2 Garcia R.A.... Buonanno A. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    9. The receptor tyrosine phosphatase-like protein ICA512 binds the PDZ domains of beta2-syntrophin and nNOS in pancreatic beta-cells. (PubMed id 11043403)1, 2 Ort T.... Solimena M. (Eur. J. Cell Biol. 2000)
    10. Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases. (PubMed id 10404183)1, 9 Lumeng C....Chamberlain J.S. (Nat. Neurosci. 1999)

    (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: 6645 HGNC: 11169 AceView: SNTB2andVPS4A Ensembl:ENSG00000168807 euGenes: HUgn6645
    ECgene: SNTB2 H-InvDB: SNTB2

    (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 SNTB2 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 SNTB2 gene:
    Search GeneIP for patents involving SNTB2

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



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