Jump to content

Main menu Navigation ●Main page ●Contents ●Current events ●Random article ●About Wikipedia ●Contact us ●Donate Contribute ●Help ●Learn to edit ●Community portal ●Recent changes ●Upload file

●Create account ●Log in ●Create account ● Log in Pages for logged out editors learn more ●Contributions ●Talk

(Top) 1 Function 2 Interactions 3 References 4 Further reading

SNTB2

●العربية ●Bosanski ●مصرى ●Татарча / tatarça ●Українська Edit links ●Article ●Talk ●Read ●Edit ●View history Tools Actions ●Read ●Edit ●View history General ●What links here ●Related changes ●Upload file ●Special pages ●Permanent link ●Page information ●Cite this page ●Get shortened URL ●Download QR code ●Wikidata item Print/export ●Download as PDF ●Printable version Appearance From Wikipedia, the free encyclopedia

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; OMA:SNTB2 - orthologs

Gene location (Human)

Chr.	Chromosome 16 (human)^[1]

Band	16q22.1	Start	69,187,147 bp^[1]
Band	16q22.1	End	69,309,052 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 8 (mouse)^[2]

Band	8 D3\|8 53.38 cM	Start	107,662,382 bp^[2]
Band	8 D3\|8 53.38 cM	End	107,746,346 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

tibia

parietal pleura

nipple

synovial joint

retinal pigment epithelium

vena cava

skin of hip

lactiferous duct

pericardium

urethra

Top expressed in

lumbar spinal ganglion

gastrula

aortic valve

ascending aorta

epithelium of lens

calvaria

decidua

endothelial cell of lymphatic vessel

mesenteric lymph nodes

retinal pigment epithelium

More reference expression data

BioGPS

n/a

Orthologs

Species

Human

Mouse

Entrez


6645


20650

Ensembl


ENSG00000168807 ENSG00000260873


ENSMUSG00000041308

UniProt


Q13425


Q61235

RefSeq (mRNA)


NM_130845 NM_006750


NM_009229 NM_001368316

RefSeq (protein)


NP_006741 NP_006741.1


NP_033255 NP_001355245

Location (UCSC)

Chr 16: 69.19 – 69.31 Mb

Chr 8: 107.66 – 107.75 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

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

Function[edit]

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[edit]

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

References[edit]

^ ^a ^b ^c ENSG00000260873 GRCh38: Ensembl release 89: ENSG00000168807, ENSG00000260873 – Ensembl, May 2017

^ ^a ^b ^c 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.

^ ^a ^b "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.

Further reading[edit]

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.