SNTB2 - syntrophin beta 2 Gene

Homo sapiens

Also known as SNT3; SNTL; SNT2B2; EST25263; D16S2531E

Gene ID: 6645 | Gene type: protein coding

About SNTB2

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:69,187,164-69,309,052 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 210 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 7.0), thyroid (RPKM 6.9) and 25 other tissues.

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]

SNTB2 Products(1)

mRNA	Protein	Name
NM_006750.4	NP_006741.1	beta-2-syntrophin

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	8576247	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19786618	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	18468998	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNTB2 Protein Structure

PDZ

0
100
200
300
400
500
540 a.a.

Protein Preferred Names

Protein Names

beta-2-syntrophin

59 kDa dystrophin-associated protein A1 basic component 2

Related Diseases

Diseases

Alias

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations

MCCCHCM

Myasthenic Syndrome, Congenital, 19

Congenital Myasthenic Syndrome 19	CMS19
Myasthenic Syndrome, Congenital, Type 19

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome	Mva Syndrome
Mosaic Variegated Aneuplody Microcephaly Syndrome	Warburton Anyane Yeboa Syndrome

Myopathy

Muscular Diseases

Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13514	SNTB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SNTB2	MGD	MGI:101771
Canis familiaris	SNTB2	VGNC	VGNC:46614
Bos taurus	SNTB2	VGNC	VGNC:35084
Rattus norvegicus	SNTB2	RGD	RGD:1592340

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