SNTG2 - syntrophin gamma 2 Gene

Homo sapiens

Also known as SYN5; G2SYN

Gene ID: 54221 | Gene type: protein coding

About SNTG2

Cytogenetic location: 2p25.3 Genomic coordinates (GRCh38): 2:950,849-1,367,613 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele, 185 orthologues and 4 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive Sodium Channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]

SNTG2 Products(1)

mRNA	Protein	Name
NM_018968.4	NP_061841.2	gamma-2-syntrophin

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables PDZ domain binding	IPI IPI: Inferred from physical interaction	17292328	GOA
enables neuroligin family protein binding	IPI IPI: Inferred from physical interaction	17292328	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10747910	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

SNTG2 Protein Structure

PDZ

0
100
200
300
400
500
539 a.a.

Protein Preferred Names

Protein Names

gamma-2-syntrophin

syntrophin-5

Related Diseases

Diseases

Alias

Hypoparathyroidism, X-Linked

HYPX	X-Linked Hypoparathyroidism
Parathyroid Glands, Agenesis Of	Agenesis Of Parathyroid Glands
Hypoparathyroidism X-Linked	Hypoparathyroidism - X-Linked

Neuronitis

Meier-Gorlin Syndrome 4

MGORS4

Meier-Gorlin Syndrome, Type 4

Developmental And Epileptic Encephalopathy 28

DEE28	Epileptic Encephalopathy, Early Infantile, 28
Eiee28	Developmental And Epileptic Encephalopathy, 28
Early Infantile Epileptic Encephalopathy 28	Encephalopathy, Epileptic, Early Infantile, Type 28

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

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-RS13516	SNTG2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SNTG2	VGNC	VGNC:46616
Rattus norvegicus	SNTG2	RGD	RGD:1311276
Macaca mulatta	SNTG2	VGNC	VGNC:77694
Mus musculus	SNTG2	MGD	MGI:1919541
Bos taurus	SNTG2	VGNC	VGNC:106939
Felis catus	SNTG2	VGNC	VGNC:65539

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