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

SNTB1 Gene

protein-coding   GIFtS: 54
GCID: GC08M121619

syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa,...

(Previous names: syntrophin, beta 1 (dystrophin-associated protein A1, 59kD,...)
(Previous symbol: SNT2B1)
 Explore 14 diseases affiliated with
SNTB1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SNTB1    

Aliases
for SNTB1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Syntrophin, Beta 1 (Dystrophin-Associated Protein A1, 59kDa, Basic Component
1)1 2
     59 KDa Dystrophin-Associated Protein A1 Basic Component 12 3
SNT2B11 2 3 5     DAPA1B2 3
BSYN21 2 3     Syntrophin, Beta 1 (Dystrophin-Associated Protein A1, 59kD, Basic Component 1)1
TIP-431 2 3     Beta-1-Syntrophin1
A1B1 2 5     Dystrophin-Associated Protein A1, 59kD, Basic Component 12
59-DAP1 2     Syntrophin-23
SNT21 2     Syntrophin-23
Tax Interaction Protein 432 3     

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


Summaries
for SNTB1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
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 plasmid: SNTB1 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

Proteins
for SNTB1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Phosphorylated by CaM-kinase II (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13884

    • SNTB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_066301.1  
    ENSEMBL proteins: 
     ENSP00000378965   ENSP00000431124   ENSP00000429610   ENSP00000429292  

    Human Recombinant Protein Products: 
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    Novus Biologicals SNTB1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    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



    SNTB1 Antibody Products: 
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    Search for Antibodies for SNTB1 at Abcam  
    Browse Antibodies at Uscn
    Search ThermoFisher Antibodies for SNTB1

    Assay Products for SNTB1: 
    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for SNTB1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SNTB1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q13884

    ProtoNet protein and cluster: Q13884

    2 Blocks protein families:
    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


    Function
    for SNTB1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: SNTB1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SNTB1
    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 plasmid: SNTB1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SNTB1 (see all 7)
    OriGene shRNA RFP: SNTB1
    OriGene siRNA: SNTB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SNTB1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SNTB1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SNTB1 (see all 4)
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    Cell Line
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    Search LifeMap BioReagents cell lines for SNTB1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNTB1

    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 IPI16192269
    GO:0005516calmodulin binding IEA--
    GO:0005543phospholipid binding IEA--
    GO:0030165PDZ domain binding IEA--


    SNTB1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SNTB1:
     Decreased cilium length after  


    Pathways & Interactions
    for SNTB1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    		Muscular Dystrophies and Dystrophin-Glycoprotein Complex1.00
    2DREAM Repression and Dynorphin Expression
    		nNOS Signaling in Skeletal Muscle0.37

    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



    Drugs & Compounds
    for SNTB1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for SNTB1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SNTB1
    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 plasmid: SNTB1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SNTB1 (see all 7)
    OriGene shRNA RFP: SNTB1
    OriGene siRNA: SNTB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SNTB1
    Clone
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    GenScript: all cDNA clones in your preferred vector: SNTB1 (NM_021021)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNTB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNTB1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SNTB1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SNTB1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SNTB1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNTB1

    Additional cDNA 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):

    AA605197 BC023571 NM_021021 AW090150 BQ006634 AI033199 BX328384 BX479290 
    BM680540 BM663567 AA629096 AF028828 BF197633 W81079 W94214 BM718090 
    BQ009547 T29784 AI168782 AI299589 BG566477 BG564593 CB044810 AI699821 

    GeneLoc Exon Structure


    Expression
    for SNTB1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SNTB1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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:     
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    Orthologs
    for SNTB1 gene

    (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 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    SNTB26
    (see all 3)    		 --
    		 64(a)
    50(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 GL343269.1(1468153-1510773)
    GL343643.1(2143-15732)
    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
    for SNTB1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNTB1 gene
    SNTG12  SNTA12  SNTB22  SNTG22  
    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


    Genomic Variants
    for SNTB1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/4636 NCBI SNPs in SNTB1 are shown (see all 4636)     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
    		F,--121547998(+) AAATCA/GGAGGT 1 -- ut311Minor allele frequency- G:0.05EA 120
    rs625266611,2
    		--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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 11 variations for SNTB1
         4 CNVs: 70428 95663 100488 2770
         7 Indels: 13112 82749 62848 47450 82750 95664 95662

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    Disorders / Diseases
    for SNTB1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SNTB1 for disorders           About GeneDecksing

    OMIM gene information: 600026    OMIM disorders: --

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

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

    1 Novoseek 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

    Publications
    for SNTB1 gene

    (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 37):
    (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. 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)
    5. 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)
    6. 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)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. A genome-wide meta-analysis identifies novel loci ass ociated with schizophrenia and bipolar disorder. (PubMed id 20889312)1 Wang K.S....Aragam N. (2010)

    External Searches for SNTB1 gene

    (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)

    Genome Databases showing SNTB1 gene

    (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

    Other Databases showing SNTB1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SNTB1 gene

    (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

    Intellectual Property
    for SNTB1 gene

    (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



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