SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) [Homo sapiens] - Gene

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Summary

Official Symbol: SNTB2provided by HGNC
Official Full Name: syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)provided by HGNC
Primary source: HGNC:11169
See related: Ensembl:ENSG00000168807; HPRD:02491; MIM:600027; Vega:OTTHUMG00000137567
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]

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Genomic context

Location :: 16q22.1

Sequence :: Chromosome: 16; NC_000016.9 (69221050..69342955)

See SNTB2 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_006741.1	NP_005226.1	ERBB4	BIND	PubMed	ErbB-4 interacts with beta 2-syntropin.
Q13425	O95477	ABCA1	HPRD	PubMed
Q13425	P25100	ADRA1D	HPRD	PubMed
Q13425	Q13574	DGKZ	HPRD	PubMed
Q13425	P11532	DMD	HPRD	PubMed
Q13425	Q9Y4J8	DTNA	HPRD	PubMed
Q13425	Q15303	ERBB4	HPRD	PubMed
Q13425	Q14500	KCNJ12	HPRD	PubMed
Q13425	Q9Y2H9	MAST1	HPRD	PubMed
Q13425	Q6P0Q8	MAST2	HPRD	PubMed
Q13425	Q16849	PTPRN	HPRD	PubMed
Q13425	P35499	SCN4A	HPRD	PubMed
Q13425	Q14524	SCN5A	HPRD	PubMed
Q13425	Q13425	SNTB2	HPRD	PubMed
Q13425	P46939	UTRN	HPRD	PubMed
BioGRID:112528	BioGRID:106537	ABCA1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:112528	BioGRID:114095	DGKZ	BioGRID	PubMed	Reconstituted Complex
BioGRID:112528	BioGRID:108096	DMD	BioGRID	PubMed	Protein-peptide
BioGRID:112528	BioGRID:108378	ERBB4	BioGRID	PubMed	Two-hybrid
BioGRID:112528	BioGRID:109970	KCNJ12	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112528	BioGRID:108326	MARK2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112528	BioGRID:116632	MAST1	BioGRID	PubMed	Reconstituted Complex
BioGRID:112528	BioGRID:116756	MAST2	BioGRID	PubMed	Reconstituted Complex
BioGRID:112528	BioGRID:111762	PTPRN	BioGRID	PubMed	Reconstituted Complex
BioGRID:112528	BioGRID:112236	SCN5A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112528	BioGRID:113245	UTRN	BioGRID	PubMed	Protein-peptide

Function	Evidence Code	Pubs
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

Component	Evidence Code	Pubs
cell junction	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
dystrophin-associated glycoprotein complex	TAS Traceable Author Statement more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
membrane fraction	TAS Traceable Author Statement more info	PubMed
microtubule	IEA Inferred from Electronic Annotation more info
synapse	IEA Inferred from Electronic Annotation more info
transport vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: beta-2-syntrophin

Names: beta-2-syntrophin; syntrophin-3; 59 kDa dystrophin-associated protein A1 basic component 2; dystrophin-associated protein A1, 59kD, basic component 2

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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)

NM_006750.3 → NP_006741.1 beta-2-syntrophin

Status: REVIEWED

Source sequence(s)

AC026464, U40572

Consensus CDS

CCDS10873.1

UniProtKB/Swiss-Prot

Q13425

Related

ENSP00000338191, OTTHUMP00000174888, ENST00000336278, OTTHUMT00000268945

Conserved Domains (2) summary

cd00992
Location:113 – 195
Blast Score: 223

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:328 – 435
Blast Score: 382

PH_syntrophin; Syntrophin pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p5 Primary Assembly

Range

69221050..69342955

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p5 PATCHES

Genomic

NW_003315946.1 Reference GRCh37.p5 PATCHES

Range

16258..42683, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

55093785..55221197

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC009131.6	None
genomic	AC026464.7 (304..34171)	None
genomic	AC026474.7 (143371..193864)	None
genomic	AJ329412.1	None
genomic	AJ331949.1	None
genomic	CH471092.1	EAW83258.1
		EAW83259.1
		EAW83260.1
mRNA	AF243385.1	AAK15149.1
mRNA	BC031058.1	None
mRNA	BC035134.1	None
mRNA	BC036429.1	None
mRNA	BC048215.1	AAH48215.1
mRNA	U40572.1	AAC50449.1
other-genetic	EU831451.1	ACE87138.1
other-genetic	EU831538.1	ACE86457.1