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SNTB2 syntrophin beta 2 [ Homo sapiens (human) ]

Gene ID: 6645, updated on 21-Dec-2019

Summary

Official Symbol
SNTB2provided by HGNC
Official Full Name
syntrophin beta 2provided by HGNC
Primary source
HGNC:HGNC:11169
See related
Ensembl:ENSG00000168807 MIM:600027
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

Genomic context

See SNTB2 in Genome Data Viewer
Location:
16q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (69187147..69309052)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (69221050..69342955)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes 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 vacuolar protein sorting 4 homolog A 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_006750.3NP_006741.1  beta-2-syntrophin

    See identical proteins and their annotated locations for NP_006741.1

    Status: REVIEWED

    Source sequence(s)
    AC026464, U40572
    Consensus CDS
    CCDS10873.1
    UniProtKB/Swiss-Prot
    Q13425
    UniProtKB/TrEMBL
    A0A024R732
    Related
    ENSP00000338191.4, ENST00000336278.8
    Conserved Domains (4) summary
    smart00233
    Location:337437
    PH; Pleckstrin homology domain
    cd00992
    Location:113195
    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:244301
    PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
    pfam00169
    Location:326437
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    69187147..69309052
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315946.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    16258..42683 complement
    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.
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