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| Syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | SNTB2; D16S2531E; EST25263; SNT2B2; SNT3; SNTL | ||||||||||
| External IDs | OMIM: 600027 MGI: 101771 HomoloGene: 4911 | ||||||||||
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| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 6645 | 20650 | |||||||||
| Ensembl | ENSG00000168807 | ENSMUSG00000041308 | |||||||||
| UniProt | Q13425 | Q3V2N5 | |||||||||
| RefSeq | NM_006750 (mRNA) | XM_994799 (mRNA) | |||||||||
| NP_006741 (protein) | XP_999893 (protein) | ||||||||||
| Location | Chr 16: 67.78 - 67.89 Mb |
Chr 8: 109.82 - 109.9 Mb |
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| PubMed search | [1] | [2] | |||||||||
Beta-2-syntrophin is a protein that in humans is encoded by the SNTB2 gene.[1][2][3]
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.[3]
Interactions
SNTB2 has been shown to interact with ABCA1.[4]
References
- ^ Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM (Mar 1996). "The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives". J Biol Chem 271 (5): 2724-30. PMID 8576247.
- ^ Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM (Jun 1994). "Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24". Proc Natl Acad Sci U S A 91 (10): 4446-50. PMID 8183929.
- ^ a b "Entrez Gene: SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6645.
- ^ Buechler, Christa; Boettcher Alfred, Bared Salim Maa, Probst Mario C O, Schmitz Gerd (May. 2002). "The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex". Biochem. Biophys. Res. Commun. (United States) 293 (2): 759-65. doi:. ISSN 0006-291X. PMID 12054535.
Further reading
- Blake DJ (2002). "Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?". Neuromuscul. Disord. 12 Suppl 1: S110–7. doi:. PMID 12206805.
- Gee SH, Madhavan R, Levinson SR, et al. (1998). "Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins.". J. Neurosci. 18 (1): 128–37. PMID 9412493.
- Lumeng C, Phelps S, Crawford GE, et al. (1999). "Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases.". Nat. Neurosci. 2 (7): 611–7. doi:. PMID 10404183.
- Garcia RA, Vasudevan K, Buonanno A (2000). "The neuregulin receptor ErbB-4 interacts with PDZ-containing proteins at neuronal synapses.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3596–601. doi:. PMID 10725395.
- Adams ME, Kramarcy N, Krall SP, et al. (2000). "Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin.". J. Cell Biol. 150 (6): 1385–98. doi:. PMID 10995443.
- Ort T, Maksimova E, Dirkx R, et al. (2001). "The receptor tyrosine phosphatase-like protein ICA512 binds the PDZ domains of beta2-syntrophin and nNOS in pancreatic beta-cells.". Eur. J. Cell Biol. 79 (9): 621–30. doi:. PMID 11043403.
- Marchand S, Stetzkowski-Marden F, Cartaud J (2001). "Differential targeting of components of the dystrophin complex to the postsynaptic membrane.". Eur. J. Neurosci. 13 (2): 221–9. doi:. PMID 11168526.
- Hogan A, Shepherd L, Chabot J, et al. (2001). "Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localization by PDZ interactions.". J. Biol. Chem. 276 (28): 26526–33. doi:. PMID 11352924.
- Ort T, Voronov S, Guo J, et al. (2001). "Dephosphorylation of beta2-syntrophin and Ca2+/mu-calpain-mediated cleavage of ICA512 upon stimulation of insulin secretion.". EMBO J. 20 (15): 4013–23. doi:. PMID 11483505.
- Buechler C, Boettcher A, Bared SM, et al. (2002). "The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex.". Biochem. Biophys. Res. Commun. 293 (2): 759–65. doi:. PMID 12054535.
- Kutsenko AS, Gizatullin RZ, Al-Amin AN, et al. (2002). "NotI flanking sequences: a tool for gene discovery and verification of the human genome.". Nucleic Acids Res. 30 (14): 3163–70. doi:. PMID 12136098.
- Chagnon P, Michaud J, Mitchell G, et al. (2003). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.". Am. J. Hum. Genet. 71 (6): 1443–9. doi:. PMID 12417987.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:. PMID 12477932.
- Jones KJ, Compton AG, Yang N, et al. (2003). "Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.". Neuromuscul. Disord. 13 (6): 456–67. doi:. PMID 12899872.
- Hillman RT, Green RE, Brenner SE (2005). "An unappreciated role for RNA surveillance.". Genome Biol. 5 (2): R8. doi:. PMID 14759258.
- Leonoudakis D, Conti LR, Anderson S, et al. (2004). "Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins.". J. Biol. Chem. 279 (21): 22331–46. doi:. PMID 15024025.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:. PMID 15489334.
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