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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
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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

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