SNTG2 - syntrophin gamma 2 Gene

Also Known as SYN5; G2SYN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54221

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	References	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

SNTG2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SNTG2	Q9NY99	DTNB	Homo sapiens	O60941	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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