SNTB2 - syntrophin beta 2 Gene
Also Known as SNT3; SNTL; SNT2B2; EST25263; D16S2531E
Species: Homo sapiens
About SNTB2
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 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
8576247 | GOA |
| Cellular Component GO Annotation | Evidence | References | 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 |
SNTB2 Protein Structure
PDZ: PDZ domain (Also known as DHR or GLGF) (116 - 194)
- 0
- 100
- 200
- 300
- 400
- 500
- 540 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
beta-2-syntrophin |
|
SNTB2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SNTB2 | Q13425 | CASK | Homo sapiens | O14936 | 33961781 | |
|
Intra
|
SNTB2 | Q13425 | CASK | Homo sapiens | O14936 | 25852190 | |
|
Intra
|
SNTB2 | Q13425 | DMD | Homo sapiens | P11532 | 33961781 | |
|
Intra
|
SNTB2 | Q13425 | UTRN | Homo sapiens | P46939 | 33961781 | |
|
Intra
|
SNTB2 | Q13425 | ADRA1D | Homo sapiens | P25100 | 16533813 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Muscular Dystrophy |
|
|
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
|
| Myasthenic Syndrome, Congenital, 19 |
|
|
| Brugada Syndrome |
|
|
| Mosaic Variegated Aneuploidy Syndrome |
|
|
| Myopathy |
|
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 |