SNTB2 - syntrophin beta 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6645

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	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	8576247	GOA

Cellular Component GO Annotation	Evidence	Références	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

SNTB2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	SNTB2	Q13425	CASK	Homo sapiens	O14936	Anti Tag CoIP	33961781
Intra	SNTB2	Q13425	CASK	Homo sapiens	O14936	Anti Tag CoIP	25852190
Intra	SNTB2	Q13425	DMD	Homo sapiens	P11532	Anti Tag CoIP	33961781
Intra	SNTB2	Q13425	UTRN	Homo sapiens	P46939	Anti Tag CoIP	33961781
Intra	SNTB2	Q13425	ADRA1D	Homo sapiens	P25100	Far-WB	16533813

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS13514	SNTB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SNTB2	NCBI