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    SNTB2 syntrophin beta 2 [ Homo sapiens (human) ]

    Gene ID: 6645, updated on 7-Apr-2024

    Summary

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    Official Symbol
    SNTB2provided by HGNC
    Official Full Name
    syntrophin beta 2provided by HGNC
    Primary source
    HGNC:HGNC:11169
    See related
    Ensembl:ENSG00000168807 MIM:600027; AllianceGenome:HGNC:11169
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SNT3; SNTL; SNT2B2; EST25263; D16S2531E
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 7.0), thyroid (RPKM 6.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16q22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (69187164..69309052)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (74983814..75110821)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (69221067..69342955)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7653 Neighboring gene UTP4 small subunit processome component Neighboring gene Sharpr-MPRA regulatory region 12307 Neighboring gene RNA, U6 small nuclear 22, pseudogene Neighboring gene zinc finger CCHC-type and RNA binding motif containing 1 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:69344125-69345075 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:69345076-69346025 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:69349279-69350478 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:69363857-69364504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7657 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:69365153-69365800 Neighboring gene vacuolar protein sorting 4 homolog A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7659 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7658 Neighboring gene component of oligomeric golgi complex 8 Neighboring gene peptide deformylase, mitochondrial Neighboring gene nucleolar pre-rRNA processing protein NIP7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Reduced Na(+) Current in Native Cardiomyocytes of a Brugada Syndrome Patient Associated With β-2-Syntrophin Mutation. Schmidt C, et al. Circ Genom Precis Med, 2018 Nov. PMID 30571189
    2. Equilibrium unfolding of the PDZ domain of β2-syntrophin. Torchio GM, et al. Biophys J, 2012 Jun 20. PMID 22735534, Free PMC Article
    3. Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. Jones KJ, et al. Neuromuscul Disord, 2003 Aug. PMID 12899872
    4. Adipocyte Hypertrophy and Improved Postprandial Lipid Response in Beta 2 Syntrophin Deficient Mice. Krautbauer S, et al. Cell Physiol Biochem, 2019. PMID 30990585
    5. Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy? Blake DJ. Neuromuscul Disord, 2002 Oct. PMID 12206805

    See all (95) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reduced Na(+) Current in Native Cardiomyocytes of a Brugada Syndrome Patient Associated With beta-2-Syntrophin Mutation.
      Title: Reduced Na(+) Current in Native Cardiomyocytes of a Brugada Syndrome Patient Associated With β-2-Syntrophin Mutation.
    2. Current study shows that high SNTB2 in obese adipose tissues restricts adipocyte growth and thereby may contribute to metabolic diseases.
      Title: Adipocyte Hypertrophy and Improved Postprandial Lipid Response in Beta 2 Syntrophin Deficient Mice.
    3. conformational plasticity of the native ensemble of this PDZ domain and the regulation of insulin secretion
      Title: Equilibrium unfolding of the PDZ domain of β2-syntrophin.
    4. patients with deficiency of beta2-syntrophin and alpha-dystrobrevin presented with severe congenital weakness and died in the first year of life
      Title: Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Yeast two hybrid assay identifies the HIV-1 Nef-interacting protein syntrophin PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of dystrophin-associated glycoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in focal adhesion HDA PubMed 
    is_active_in intracellular anatomical structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    beta-2-syntrophin
    Names
    59 kDa dystrophin-associated protein A1 basic component 2
    dystrophin-associated protein A1, 59kD, basic component 2
    syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)
    syntrophin-3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_006750.4 → NP_006741.1  beta-2-syntrophin

      See identical proteins and their annotated locations for NP_006741.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AC009131, AC026464, AC026474
      Consensus CDS
      CCDS10873.1
      UniProtKB/Swiss-Prot
      Q13425, Q9BY09
      Related
      ENSP00000338191.4, ENST00000336278.9
      Conserved Domains (3) summary
      cd00992
      Location:113 → 195
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01258
      Location:244 → 301
      PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
      pfam00169
      Location:326 → 434
      PH; PH domain

    RNA

    1. NR_172088.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009131, AC026464, AC026474

    2. NR_172089.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009131, AC026464, AC026474

    3. NR_172090.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009131, AC026464, AC026474

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      69187164..69309052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315946.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      16258..42666 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      74983814..75110821
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_130845.1: Suppressed sequence

      Description
      NM_130845.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13425.1 GenPept UniProtKB/Swiss-Prot:Q13425

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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