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Syntrophin, gamma 2

syn-5, SNTG2, gamma2-Syntrophin, syntrophin gamma 2
This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, CAN, alpha1-syntrophin, thrombopoietin, Tris
Papers on syn-5
Genomic structural variants are linked with intellectual disability.
Thompson et al., Moscow, Russia. In J Neural Transm, Sep 2015
revealed deletions within genes encoding MYTL, SNTG2 and TPO among five of 21 affected cases at 2p25.3-p24.2.
Total synthesis of (+)-isatisine a: application of a silicon-directed mukaiyama-type [3 + 2]-annulation.
Panek et al., Boston, United States. In J Org Chem, Apr 2015
The synthesis highlights the use of a highly diastereoselective Mukaiyama-type [3 + 2]-annulation of allylsilane 5 with the unsaturated aldehyde 9a to assemble the functionalized tetrahydrofuran core of isatisine A. A convergent route to the framework of the natural product was established that employed a substrate-controlled indole coupling that was followed by a late-stage intramolecular copper(I)-mediated amidation to complete the assembly of the tetracyclic framework of (+)-isatisine A. In addition, the scope of the [3 + 2]-annulation was evaluated and enhanced utilizing diastereomeric allylsilanes anti-5 and syn-5 to establish an efficient route to stereochemically well-defined tetrahydrofurans.
[Genetic diagnosis and analysis of related genes for a pedigree with 2p25 and 12p13 cryptic rearrangements].
Lan et al., Fuzhou, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2014
SNP-array has fine mapped the duplication to 12p13.33-p12.3, a 15.142 Mb region, and a deletion to 2p25.3 for 3.194 Mb, which resulted in duplication of 9 genes including SLC6A12 as well as deletion of 11 genes including SNTG2, respectively.
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Geneviève et al., Reims, France. In Eur J Hum Genet, 2014
deletion with a minimal critical region estimated at 1.97 Mb and encompassing seven genes, namely SH3HYL1, ACP1, TMEMI8, SNTG2, TPO, PXDN, and MYT1L genes.
A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder.
Zanini et al., Lecco, Italy. In Mol Cytogenet, 2013
The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN.
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.
Malan et al., Paris, France. In Clin Genet, 2013
We also discuss that the MYTL1L and the SNTG2 genes within the reported region could probably relate to the phenotypic discordance of the monozygotic twins.
Chiral M3L2 self-assembled capsules through metal coordination of enantiopure ligating benzocyclotrimers: NMR spectroscopic and ESI mass spectrometric investigation.
Scarso et al., Venice, Italy. In Chemistry, 2013
The synthesis of enantiopure (+)-benzotricamphor syn-5, an important chiral C3-symmetric rigid building block for supramolecular applications, was studied in detail to reduce the number of steps and to increase the diastereoselectivity and overall yield.
Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization.
Wang et al., Taipei, Taiwan. In Gene, 2013
We discuss the consequence of haploinsufficiency of HDAC4, KIF1A, PASK, HDLBP, FRAP2 and D2HGDH on 2q37.3, and haploinsufficiency of MYT1L, SNTG2 and TPO on 2p25.3 in this case.
Identification of rare copy number variants in high burden schizophrenia families.
Del-Favero et al., Antwerp, Belgium. In Am J Med Genet B Neuropsychiatr Genet, 2013
A second index patient presented with an NRXN1 containing deletion and two adjacent duplications containing MYT1L and SNTG2.
Concerning the 1,5-stereocontrol in tin(IV) chloride promoted reactions of 4- and 5-alkoxyalk-2-enylstannanes: trapping intermediate allyltin trichlorides using phenyllithium.
Thomas et al., Manchester, United Kingdom. In Org Biomol Chem, 2012
Transmetallation of the 5-benzyloxy-4-methylpent-2-en-1-yl(tributyl)- and -(triphenyl)stannanes 1 and 8 using tin(iv) chloride generates an allyltin trichloride that reacts with aldehydes to give (Z)-1,5-anti-6-benzyloxy-5-methylhex-3-en-1-ols 2. The allyltin trichloride believed to be the key intermediate in these reactions has been trapped by phenyllithium to give anti-5-benzyloxy-4-methylpent-1-en-3-yl(triphenyl)stannane 9. Transmetallation of this anti-5-benzyloxy-4-methylpent-1-en-3-yl(triphenyl)stannane 9 generated an allyltin trichloride that reacted with aldehydes to give the (Z)-1,5-syn-6-benzyloxy-5-methylhex-3-en-1-ols 23 and was trapped by phenyllithium to give syn-5-benzyloxy-4-methylpent-1-en-3-yl(triphenyl)stannane 24.
syn-5,10,15-Tris(dichloro-meth-yl)-5,10,15-trihy-droxy-5H-diindeno-[1,2-a:1',2'-c]fluorene dichloro-methane 0.82-solvate.
Watkins et al., Baton Rouge, United States. In Acta Crystallogr Sect E Struct Rep Online, 2012
The title compound, C(30)H(18)Cl(6)O(3)·0.82CH(2)Cl(2),
Copy number variation in subjects with major depressive disorder who attempted suicide.
Ernst et al., Boston, United States. In Plos One, 2011
We found a set of CNVs present in the suicide attempter group that were not present in in the non-attempter group including in SNTG2 and MACROD2 - two brain expressed genes previously linked to psychopathology; however, these results failed to reach genome-wide signifigance.
Crucial dependence of chemiluminescence efficiency on the syn/anti conformation for intramolecular charge-transfer-induced decomposition of bicyclic dioxetanes bearing an oxidoaryl group.
Tanaka et al., Hiratsuka, Japan. In J Org Chem, 2011
For all three pairs of rotamers, the chemiluminescence efficiency Φ(CL) for anti-5 was 8-19 times higher than that for syn-5, and the rate of CTID (charge-transfer-induced decomposition) for anti-5 was faster than that for syn-5.
Organic molecules reconstruct nanostructures on ionic surfaces.
Echavarren et al., Sendai, Japan. In Small, 2011
Specially designed syn-5,10,15-tris(4-cyanophenylmethyl)truxene molecules can reshape features on an ionic KBr (001) surface.
Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations.
Ishiura et al., Tokyo, Japan. In Biochem Biophys Res Commun, 2007
A de novo binding partner of X-linked neuroligin 4 and neuroligin 3, which correlates with autism-related mutations.
gamma-Syntrophin scaffolding is spatially and functionally distinct from that of the alpha/beta syntrophins.
Adams et al., Seattle, United States. In Exp Cell Res, 2006
Gamma1-Syntrophin is highly expressed in brain and is specifically localized in hippocampal pyramidal neurons, Purkinje neurons in cerebellum, and cortical neurons. gamma2-Syntrophin is expressed in many tissues including skeletal muscle.
Syntrophin gamma 2 regulates SCN5A gating by a PDZ domain-mediated interaction.
Farrugia et al., Rochester, United States. In J Biol Chem, 2003
role in regulating SCN5A gating by a PDZ domain-mediated interaction
The role of herpes simplex virus glycoproteins in the virus replication cycle.
Vojvodová et al., Bratislava, Slovakia. In Acta Virol, 1998
Unusually large polykaryocytes arise due to mutations in syn (syncytium) loci of the viral genome, which were mapped to UL53 (syn1) and UL27 (syn3) genes coding for gK and gB, respectively, while the genes UL20 and UL24 (both syn5) code for nonglycosylated cell membrane-associated proteins ("membrane proteins").
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