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SNTB2

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S Wikipedije, slobodne enciklopedije

SNTB2

Dostupne strukture

PDB

Pretraga ortologa:PDBe RCSB

Spisak PDB ID kodova
2VRF

Identifikatori

Aliasi

SNTB2

Vanjski ID-jevi

OMIM:600027 MGI:101771 HomoloGene:4911 GeneCards:SNTB2

Lokacija gena (čovjek)

Hrom.	Hromosom 16 (čovjek)^[1]

Bend	16q22.1	Početak	69,187,147bp^[1]
Bend	16q22.1	Kraj	69,309,052bp^[1]

Lokacija gena (miš)

Hrom.	Hromosom 8 (miš)^[2]

Bend	8 D3\|8 53.38 cM	Početak	107,662,382bp^[2]
Bend	8 D3\|8 53.38 cM	Kraj	107,746,346bp^[2]

Ortolozi

Vrste

Čovjek

Miš

Entrez


6645


20650

Ensembl


ENSG00000168807 ENSG00000260873


ENSMUSG00000041308

UniProt


Q13425


Q61235

RefSeq (mRNK)


NM_130845 NM_006750


NM_009229 NM_001368316

RefSeq (bjelančevina)


NP_006741 NP_006741.1


NP_033255 NP_001355245

Lokacija (UCSC)

Chr 16: 69.19 – 69.31 Mb

Chr 8: 107.66 – 107.75 Mb

PubMed pretraga

^[3]

^[4]

Wikipodaci

Pogledaj/uredi – čovjek

Pogledaj/uredi – miš

Beta-2-sintrofin jeprotein koji je kod čovjeka kodirangenomSNTB2.^[5]^[6]^[7]

Funkcija

[uredi |uredi izvor]

Distrofin je veliki štapićasticitoskeletni proten, koji se nalazi na unutrašnjoj površini mišićnih vlakana. Nedostaje kod pacijenata sa Duchenneovom mišićnom distrofijom, a prisutan je u smanjenim količinama kod Beckerovih mišićnih distrofičara. Protein koji je kodiran ovim genom je protein periferne membrane koji se nalazi povezan sadistrofinom i proteinima povezanim sa distrofinom. Ovaj gen je član porodice sintrofinskih gena, koja sadrži najmanje još dva strukturno povezana gena.^[7]

Interakcije

[uredi |uredi izvor]

Dokazano je da SNTB2 stupa uinterakcije saABCA1.^[8]

Reference

[uredi |uredi izvor]

^^a ^b ^cENSG00000260873 GRCh38: Ensembl release 89: ENSG00000168807, ENSG00000260873 -Ensembl, maj 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000041308 -Ensembl, maj 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 (mart 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 (juni 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.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 (maj 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.

Dopunska literatura

[uredi |uredi izvor]

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.
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.
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.
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.

Vanjski linkovi

Membrane/
extracellular

DAP:	Sarcoglycan SGCA SGCB SGCD SGCE SGCG SGCZ Dystroglycan
Sarcospan Laminin, alpha 2

Intracellular

Dystrophin Dystrobrevin A B Syntrophin A B1 B2 G1 G2 Syncoilin Dysbindin Synemin/desmuslin
related:	NOS1 Caveolin 3

Sarcomere/
(a, i, and h bands;
z and m lines)

Myofilament

Tropomyosin

Troponin
- T
- C
- I

Connective tissue

General

Cardiac
muscle

Both

Fiber	Muscle fiber intrafusal extrafusal Myofibril Microfilament/Myofilament Sarcomere
Cells	Myoblast/Muscle cell Myosatellite cell
Other	Desmin Sarcoplasm Sarcolemma T-tubule Sarcoplasmic reticulum

Other/
ungrouped

Preuzeto iz "https://bs.wikipedia.org/w/index.php?title=SNTB2&oldid=3318587"

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