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

SNTB1 Gene

protein-coding   GIFtS: 55
GCID: GC08M121619

Syntrophin, Beta 1 (Dystrophin-Associated Protein A1, 59kDa,...

(Previous names: syntrophin, beta 1 (dystrophin-associated protein A1, 59kD,...)
(Previous symbol: SNT2B1)
Microbiology & Infectious Diseases Congress
  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
Syntrophin, Beta 1 (Dystrophin-Associated Protein A1, 59kDa, Basic
Component 1)1 2
     Syntrophin, Beta 1 (Dystrophin-Associated Protein A1, 59kD, Basic
Component 1)1
SNT2B11 2 3 5     59-DAP2
Tax Interaction Protein 431 2 3     SNT22
59 KDa Dystrophin-Associated Protein A1 Basic Component 12 3     beta-1-syntrophin2
BSYN22 3     Dystrophin-Associated Protein A1, 59kD, Basic Component 12
DAPA1B2 3     syntrophin-22
TIP-432 3     Syntrophin-23
A1B2 5     

External Ids:    HGNC: 111681   Entrez Gene: 66412   Ensembl: ENSG000001721647   OMIM: 6000265   UniProtKB: Q138843   

Export aliases for SNTB1 gene to outside databases

Previous GC identifers: GC08M120518 GC08M121607 GC08M121218 GC08M121506 GC08M116868


(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 SNTB1 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 SNTB1 Gene: 
SNTB1 (syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)) is a protein-coding gene. Diseases associated with SNTB1 include hemometra, and duchenne muscular dystrophy, and among its related super-pathways are DREAM Repression and Dynorphin Expression. GO annotations related to this gene include phospholipid binding and calmodulin binding. An important paralog of this gene is SNTA1.

UniProtKB/Swiss-Prot: SNTB1_HUMAN, Q13884
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

Gene Wiki entry for SNTB1 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_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNTB1 gene promoter:
         AP-1   Pax-6   CUTL1   E4BP4   Gfi-1   E47   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNTB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SNTB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNTB1


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

Entrez Gene cytogenetic band: 8q23-q24   Ensembl cytogenetic band:  8q24.12   HGNC cytogenetic band: 8q23-q24

SNTB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNTB1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M121619:  view genomic region     (about GC identifiers)

Start:
121,547,985 bp from pter      End:
121,825,513 bp from pter
Size:
277,529 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: SNTB1_HUMAN, Q13884 (See protein sequence)
Recommended Name: Beta-1-syntrophin  
Size: 538 amino acids; 58061 Da
Subunit: Monomer and homodimer (Probable). Interacts with the other members of the syntrophin family SNTA1 and
SNTB2; with the sodium channel proteins SCN4A and SCN5A (By similarity). Interacts with the viral HTLV-1 TAX
protein and with dystrophin protein DMD and related proteins DTNA and UTRN
Subcellular location: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side (By similarity).
Cell junction (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=In skeletal muscle, it localizes at
the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions (By similarity)
Secondary accessions: A8K9E0 O14912 Q4KMG8
Alternative splicing: 2 isoforms:  Q13884-1   Q13884-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SNTB1: NX_Q13884

Explore proteomics data for SNTB1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by CaM-kinase II (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13884

  • SNTB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SNTB1 Protein Expression
    REFSEQ proteins: NP_066301.1  
    ENSEMBL proteins: 
     ENSP00000378965   ENSP00000431124   ENSP00000429292  

    Human Recombinant Protein Products for SNTB1: 
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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0016010dystrophin-associated glycoprotein complex TAS8119949
    GO:0030054cell junction IEA--
    GO:0042383sarcolemma IEA--

    SNTB1 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
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing

    4 InterPro protein domains:
     IPR015482 Syntrophin
     IPR011993 PH_like_dom
     IPR001478 PDZ
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry Q13884

    ProtoNet protein and cluster: Q13884

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


    UniProtKB/Swiss-Prot: SNTB1_HUMAN, Q13884
    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


    SNTB1 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: SNTB1_HUMAN, Q13884
    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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI12477932
    GO:0005516calmodulin binding IEA--
    GO:0005543phospholipid binding IEA--
    GO:0030165PDZ domain binding IEA--
         
    SNTB1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SNTB1:
     Decreased cilium length after  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SNTB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SNTB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNTB1 
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    miRNA
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    hsa-miR-607 hsa-miR-4272 hsa-miR-578 hsa-miR-374a hsa-miR-3074-3p hsa-miR-138-2* hsa-miR-105 hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidSNTB1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNTB1


    (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 SNTB1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1DREAM Repression and Dynorphin Expression
    nNOS Signaling in Skeletal Muscle0.37
    2Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    Muscular Dystrophies and Dystrophin-Glycoprotein Complex

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SNTB1
        Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    nNOS Signaling in Skeletal Muscle


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SNTB1

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

    5/34 Interacting proteins for SNTB1 (Q138841, 3 ENSP000003789654) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DMDP115321, 3, ENSP000003549234EBI-295843,EBI-295827 I2D: score=5 STRING: ENSP00000354923
    ABCA1O954771, 3, ENSP000003638684EBI-295843,EBI-784112 I2D: score=2 STRING: ENSP00000363868
    DTNBO609413, ENSP000003840844I2D: score=2 STRING: ENSP00000384084
    UTRNP469393, ENSP000003565154I2D: score=2 STRING: ENSP00000356515
    MAPK12P537783, ENSP000002156594I2D: score=1 STRING: ENSP00000215659
    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:0006936muscle contraction TAS8183929

    SNTB1 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 SNTB1

    2 HMDB Compounds for SNTB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    SodiumSodium (see all 2)7440-23-5--

    Search CenterWatch for drugs/clinical trials and news about SNTB1

    (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 SNTB1 gene: 
    NM_021021.3  

    Unigene Cluster for SNTB1:

    Syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)
    Hs.46701  [show with all ESTs]
    Unigene Representative Sequence: NM_021021
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395601(uc010mdg.3) ENST00000517992 ENST00000519177(uc003ype.3)
    ENST00000519298 ENST00000520717
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate SNTB1 (see all 37):
    hsa-miR-607 hsa-miR-4272 hsa-miR-578 hsa-miR-374a hsa-miR-3074-3p hsa-miR-138-2* hsa-miR-105 hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidSNTB1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF028828.1 AK025100.1 AK026095.1 AK292655.1 AK302130.1 BC023571.2 BC098573.1 

    8 DOTS entries:

    DT.409531  DT.91754158  DT.100674052  DT.210577  DT.95358875  DT.100684268  DT.95264138  DT.121480681 

    24/142 AceView cDNA sequences (see all 142):

    BF197633 W94214 AA629096 BM718090 BQ009547 AA605197 BQ006634 AI168782 
    BC023571 AF028828 AW090150 NM_021021 AI033199 BX328384 W81079 T29784 
    BX479290 BM680540 BM663567 BG616582 BE503298 T88734 AW511798 BG031406 

    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

    SNTB1 expression in normal human tissues (normalized intensities)      SNTB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SNTB1 Expression
    About this image


    SNTB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Mesenchymal Stem Cells
             Umbilical cord blood-derived mesenchymal stem cells
             Dental pulp Stem Cells (DPSC)   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Umbilical cord blood-derived mesenchymal stem cells
             alveolar macrophages   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Human Annulus Fibrosus Cells (HAFC)   
     
     Fibroblast (Uncategorized)    fully expand to see all 2 entries
             Human Gingival Fibroblasts (HGF)   
     
     Uncategorized (Uncategorized)
             PureStem progenitor F15

    See SNTB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNTB1

    SOURCE GeneReport for Unigene cluster: Hs.46701

    UniProtKB/Swiss-Prot: SNTB1_HUMAN, Q13884
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNTB1

    (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 SNTB1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sntb11 , 5 syntrophin, basic 11, 5 89.14(n)1
    93.48(a)1
      15 (22.14 cM)5
    206491  NM_016667.31  NP_057876.11 
     556388435 
    chicken
    (Gallus gallus)
    Aves SNTB11 syntrophin, beta 1 (dystrophin-associated protein A1, more 81.67(n)
    85.19(a)
      404774  NM_001005798.1  NP_001005798.1 
    lizard
    (Anolis carolinensis)
    Reptilia SNTB16
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343269.1(1468143-1510773)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.135832 Transcribed sequence with weak similarity to protein more 80.7(n)    BX734346.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.121272 Transcribed sequence with weak similarity to protein more 85.34(n)    CF998553.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Syn11 , 3 cytoskeletal protein binding3
    Syntrophin-like 11
    38(a)3
    53.55(n)1
    46.12(a)1
      78F13
    404241  NM_079481.21  NP_524205.21 
    worm
    (Caenorhabditis elegans)
    Secernentea stn-11 , 3 beta1-syntrophin3
    Protein STN-11
    35(a)3
    48.47(n)1
    41.97(a)1
      I(9509379-9512877)3
    2668441  NM_060120.31  NP_492521.11 


    ENSEMBL Gene Tree for SNTB1 (if available)
    TreeFam Gene Tree for SNTB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNTB1 gene
    SNTA12  SNTG12  SNTB22  SNTG22  GOPC2  
    2 SIMAP similar genes for SNTB1 using alignment to 3 protein entries:     SNTB1_HUMAN (see all proteins):
    SNTA1    SNTB2

    SNTB1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SNTB1
    PGOHUM00000257198


    (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

    10/5445 SNPs in SNTB1 are shown (see all 5445)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1874581701,2
    --121547504(+) AGATGA/GAGTCT 1 -- ds50010--------
    rs733172351,2
    C,F--121547747(+) AAGTCT/CTGGGA 1 -- ds50013Minor allele frequency- C:0.40WA CSA 5
    rs1437649381,2
    --121547770(+) GCCACC/TGTGCC 1 -- ds50010--------
    rs1932772351,2
    --121547803(+) AATGAA/GTTCAG 1 -- ds50010--------
    rs1853866261,2
    --121547825(+) TAAGTA/GAACAC 1 -- ds50010--------
    rs1879149311,2
    --121547857(+) TCTCGA/TTTATC 1 -- ds50010--------
    rs1924982541,2
    --121547898(+) ACTTGC/TCTTCA 1 -- ds50010--------
    rs1836141591,2
    --121547984(+) AACTTC/GTGCAC 1 -- ds50010--------
    rs1173463731,2
    C,F--121547998(+) AAATCA/GGAGGT 1 -- ut311Minor allele frequency- G:0.05EA 120
    rs625266611,2
    C,F--121548152(+) CGTGTT/CTGGAA 1 -- ut312Minor allele frequency- C:0.05NA 122

    HapMap Linkage Disequilibrium report for SNTB1 (121547985 - 121797985 bp, first 250kb of SNTB1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for SNTB1 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2627304CNV Deletion19546169
    esv991277CNV Deletion20482838
    esv2384067CNV Deletion18987734
    esv2737504CNV Deletion23290073
    nsv6368CNV Insertion18451855
    nsv6367CNV Insertion18451855
    esv27731CNV Loss19812545
    esv9493CNV Loss19470904
    nsv396363CNV Loss16902084
    dgv472n21CNV Loss19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600026    OMIM disorders: --

    12 diseases for SNTB1:    About MalaCards
    hemometra    duchenne muscular dystrophy    tularemia    becker muscular dystrophy
    muscular dystrophy    paraplegia    spasticity    myopathy
    rheumatoid arthritis    esophagitis    arthritis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SNTB1:
    Duchenne muscular dystrophy

    SNTB1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SNTB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophy duchenne 55.9 1 1461282 (1)

    Genetic Association Database (GAD): SNTB1

    Export disorders for SNTB1 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 SNTB1 gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with SNTB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. (PubMed id 8183929)1, 2, 3, 9 Ahn A.H.... Kunkel L.M. (1994)
    2. The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction with the PDZ domain of cellular proteins. (PubMed id 9482110)1, 2, 3 Rousset R.... Jalinot P. (1998)
    3. Syntrophin binds to an alternatively spliced exon of dystrophin. (PubMed id 7844150)1, 2, 9 Ahn A.H. and Kunkel L.M. (1995)
    4. Common variants at 5q22 associate with pediatric eosi nophilic esophagitis. (PubMed id 20208534)1, 4 Rothenberg M.E....Hakonarson H. (2010)
    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. (2004)
    6. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    7. 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, 9 Ahn A.H.... Kunkel L.M. (1996)
    8. Brain-specific angiogenesis inhibitor-1 signaling, reg ulation, and enrichment in the postsynaptic density. (PubMed id 23782696)1 Stephenson J.R....Hall R.A. (2013)
    9. A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population. (PubMed id 23406873)1 Shi Y....Yang Z. (2013)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 6641 HGNC: 11168 AceView: SNTB1 Ensembl:ENSG00000172164 euGenes: HUgn6641
    ECgene: SNTB1 H-InvDB: SNTB1

    (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 SNTB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SNTB1 gene:
    Search GeneIP for patents involving SNTB1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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