SNTB2

SNTB2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2VRF
Identifiers
Aliases	SNTB2 , D16S2531E, EST25263, SNT2B2, SNT3, SNTL, syntrophin beta 2
External IDs	OMIM: 600027 MGI: 101771 HomoloGene: 4911 GeneCards: SNTB2
Gene location (Human)
Chr.	Chromosome 16 (human)
End	69,309,052 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	107,746,346 bp
RNA expression pattern
	Top expressed in
	tibia; ; parietal pleura; ; nipple; ; synovial joint; ; retinal pigment epithelium; ; vena cava; ; lactiferous duct; ; pericardium; ; urethra; ; visceral pleura;
	Top expressed in
	aortic valve; ; ascending aorta; ; calvaria; ; retinal pigment epithelium; ; parotid gland; ; spermatocyte; ; belly cord; ; stria vascularis; ; atrium; ; body of femur;
	More reference expression data
	n/a
Orthologs
	6645
	20650
	ENSG00000168807 ; ENSG00000260873
	ENSMUSG00000041308
	Q13425
	Q61235
	NM_130845 ; NM_006750
	NM_009229 ; NM_001368316
	NP_006741 ; NP_006741.1
	NP_033255 ; NP_001355245
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 29, 2022

Beta-2-syntrophin is a protein that in humans is encoded by the SNTB2 gene.^[5]^[6]^[7]

Function

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.^[7]

Interactions

SNTB2 has been shown to interact with ABCA1.^[8]

Related Research Articles

Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa

Derek Blake was, until 2007, the Isobel Laing Post-Doctoral Fellow in Biomedical Sciences, and the Wellcome Trust Senior Fellow in Basic Biomedical Science, Oriel College, Oxford.

Utrophin is a protein that in humans is encoded by the UTRN gene.

Dystrobrevin is a protein that binds to dystrophin in the costamere of skeletal muscle cells. In humans, there are at least two isoforms of dystrobrevin, dystrobrevin alpha and dystrobrevin beta.

PSD-95 also known as SAP-90 is a protein that in humans is encoded by the DLG4 gene.

Peripheral plasma membrane protein CASK is a protein that in humans is encoded by the CASK gene. This gene is also known by several other names: CMG 2, calcium/calmodulin-dependent serine protein kinase 3 and membrane-associated guanylate kinase 2.

Disks large homolog 2 (DLG2) also known as channel-associated protein of synapse-110 (chapsyn-110) or postsynaptic density protein 93 (PSD-93) is a protein that in humans is encoded by the DLG2 gene.

Amyloid beta A4 precursor protein-binding family A member 1 is a protein that in humans is encoded by the APBA1 gene.

Alpha-1-syntrophin is a protein that in humans is encoded by the SNTA1 gene. Alpha-1 syntrophin is a signal transducing adaptor protein and serves as a scaffold for various signaling molecules. Alpha-1 syntrophin contains a PDZ domain, two Pleckstrin homology domain and a 'syntrophin unique' domain.

Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.

Potassium inwardly-rectifying channel, subfamily J, member 4, also known as KCNJ4 or K_ir2.3, is a human gene.

Delta-sarcoglycan is a protein that in humans is encoded by the SGCD gene.

Alpha-sarcoglycan is a protein that in humans is encoded by the SGCA gene.

Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene. The α to δ-sarcoglycans are expressed predominantly (β) or exclusively in striated muscle. A mutation in any of the sarcoglycan genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex. The disease-causing mutations in the α to δ genes cause disruptions within the dystrophin-associated protein (DAP) complex in the muscle cell membrane. The transmembrane components of the DAP complex link the cytoskeleton to the extracellular matrix in adult muscle fibres, and are essential for the preservation of the integrity of the muscle cell membrane.

Beta-1-syntrophin is a protein that in humans is encoded by the SNTB1 gene.

Lin-7 homolog A is a protein that in humans is encoded by the LIN7A gene.

Lin-7 homolog B is a protein that in humans is encoded by the LIN7B gene.

Gamma-1-syntrophin is a protein that in humans is encoded by the SNTG1 gene.

Dystrobrevin alpha is a protein that in humans is encoded by the DTNA gene.

Dystrobrevin beta is a protein which in humans is encoded by the DTNB gene.

References

1 2 3 ENSG00000260873 GRCh38: Ensembl release 89: ENSG00000168807, ENSG00000260873 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041308 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM (March 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. doi: 10.1074/jbc.271.5.2724 . PMID 8576247.
↑ Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM (June 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. Bibcode:1994PNAS...91.4446A. doi: 10.1073/pnas.91.10.4446 . PMC 43802 . PMID 8183929.
1 2 "Entrez Gene: SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)".
↑ Buechler C, Boettcher A, Bared SM, Probst MC, Schmitz G (May 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:10.1016/S0006-291X(02)00303-0. PMID 12054535.

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:10.1016/S0960-8966(02)00091-3. PMID 12206805. S2CID 9188156.
Gee SH, Madhavan R, Levinson SR, Caldwell JH, Sealock R, Froehner SC (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. CiteSeerX 10.1.1.469.2092 . doi:10.1523/JNEUROSCI.18-01-00128.1998. PMC 6793384 . PMID 9412493.
Lumeng C, Phelps S, Crawford GE, Walden PD, Barald K, Chamberlain JS (1999). "Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases". Nat. Neurosci. 2 (7): 611–7. doi:10.1038/10165. PMID 10404183. S2CID 20910888.
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: 10.1073/pnas.070042497 . PMC 16285 . PMID 10725395.
Adams ME, Kramarcy N, Krall SP, Rossi SG, Rotundo RL, Sealock R, Froehner SC (2000). "Absence of α-Syntrophin Leads to Structurally Aberrant Neuromuscular Synapses Deficient in Utrophin". J. Cell Biol. 150 (6): 1385–98. doi:10.1083/jcb.150.6.1385. PMC 2150701 . PMID 10995443.
Ort T, Maksimova E, Dirkx R, Kachinsky AM, Berghs S, Froehner SC, Solimena M (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:10.1078/0171-9335-00095. 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:10.1046/j.1460-9568.2001.01373.x. PMID 11168526.
Hogan A, Shepherd L, Chabot J, Quenneville S, Prescott SM, Topham MK, Gee SH (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: 10.1074/jbc.M104156200 . PMID 11352924.
Ort T, Voronov S, Guo J, Zawalich K, Froehner SC, Zawalich W, Solimena M (2001). "Dephosphorylation of β2-syntrophin and Ca2+/µ-calpain-mediated cleavage of ICA512 upon stimulation of insulin secretion". EMBO J. 20 (15): 4013–23. doi:10.1093/emboj/20.15.4013. PMC 149140 . PMID 11483505.
Buechler C, Boettcher A, Bared SM, Probst MC, Schmitz G (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:10.1016/S0006-291X(02)00303-0. PMID 12054535.
Kutsenko AS, Gizatullin RZ, Al-Amin AN, Wang F, Kvasha SM, Podowski RM, Matushkin YG, Gyanchandani A, Muravenko OV, Levitsky VG, Kolchanov NA, Protopopov AI, Kashuba VI, Kisselev LL, Wasserman W, Wahlestedt C, Zabarovsky ER (2002). "NotI flanking sequences: a tool for gene discovery and verification of the human genome". Nucleic Acids Res. 30 (14): 3163–70. doi:10.1093/nar/gkf428. PMC 135748 . PMID 12136098.
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A (2003). "A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis". Am. J. Hum. Genet. 71 (6): 1443–9. doi:10.1086/344580. PMC 378590 . PMID 12417987.
Jones KJ, Compton AG, Yang N, Mills MA, Peters MF, Mowat D, Kunkel LM, Froehner SC, North KN (2003). "Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy". Neuromuscul. Disord. 13 (6): 456–67. doi:10.1016/S0960-8966(03)00066-X. PMID 12899872. S2CID 53270107.
Hillman RT, Green RE, Brenner SE (2005). "An unappreciated role for RNA surveillance". Genome Biol. 5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMC 395752 . PMID 14759258.
Leonoudakis D, Conti LR, Anderson S, Radeke CM, McGuire LM, Adams ME, Froehner SC, Yates JR, Vandenberg CA (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: 10.1074/jbc.M400285200 . PMID 15024025.

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[refGRCh38Ensembl-1] 1 2 3 ENSG00000260873 GRCh38: Ensembl release 89: ENSG00000168807, ENSG00000260873 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041308 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8576247-5] Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM (March 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. doi: 10.1074/jbc.271.5.2724 . PMID 8576247.

[pmid8183929-6] Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM (June 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. Bibcode:1994PNAS...91.4446A. doi: 10.1073/pnas.91.10.4446 . PMC 43802 . PMID 8183929.

[entrez-7] 1 2 "Entrez Gene: SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)".

[pmid12054535-8] Buechler C, Boettcher A, Bared SM, Probst MC, Schmitz G (May 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:10.1016/S0006-291X(02)00303-0. PMID 12054535.

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SNTB2

Contents

Function

Interactions

Related Research Articles

References

Further reading