Varaico: Literature-Extracted Genetic Variants

Gene:TGM2
Variant:p.C277S
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TGM2

NM_004613.4:p.C277S

Associated Papers

Transglutaminase 2 promotes tumorigenicity of colon cancer cells by inactivation of the tumor suppressor p53.

Malkomes P et al.

Oncogene, 2021

Transglutaminase 2 mediates hypoxia-induced selective mRNA translation via polyamination of 4EBPs.

Cho SY et al.

Life Science Alliance, 2020

Spotlight on the transglutaminase 2 gene: a focus on genomic and transcriptional aspects.

Bianchi N et al.

The Biochemical Journal, 2018

Renal cell carcinoma escapes death by p53 depletion through transglutaminase 2-chaperoned autophagy.

Kang JH et al.

Cell Death & Disease, 2016

Transglutaminase 2 contributes to a TP53-induced autophagy program to prevent oncogenic transformation.

Yeo SY et al.

Elife, 2016

Isopeptidase activity of human transglutaminase 2: disconnection from transamidation and characterization by kinetic parameters.

Király R et al.

Amino Acids, 2016

PINK1 phosphorylates transglutaminase 2 and blocks its proteasomal degradation.

Min B et al.

Journal of Neuroscience Research, 2015

Cancer cells promote survival through depletion of the von Hippel-Lindau tumor suppressor by protein crosslinking.

Kim DS et al.

Oncogene, 2011

Bcr is a substrate for Transglutaminase 2 cross-linking activity.

Yi SJ et al.

Bmc Biochemistry, 2011

Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition.

Luciani A et al.

Nature Cell Biology, 2010

Cystamine suppresses polyalanine toxicity in a mouse model of oculopharyngeal muscular dystrophy.

Davies JE et al.

Science Translational Medicine, 2010

Transglutaminase 2 regulates the GTPase-activating activity of Bcr.

Yi SJ et al.

The Journal of Biological Chemistry, 2009

Functional significance of five noncanonical Ca2+-binding sites of human transglutaminase 2 characterized by site-directed mutagenesis.

Király R et al.

The Febs Journal, 2009

[Implications of successful immunotherapy in ALS model mice].

Urushitani M

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2008

Tissue transglutaminase regulates focal adhesion kinase/AKT activation by modulating PTEN expression in pancreatic cancer cells.

Verma A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief no. 982. Online.

Porzio O et al.

Human Mutation, 2007

Crosslinking and G-protein functions of transglutaminase 2 contribute differentially to fibroblast wound healing responses.

Stephens P et al.

Journal of Cell Science, 2004

Site-directed mutagenesis of human tissue transglutaminase: Cys-277 is essential for transglutaminase activity but not for GTPase activity.

Lee KN et al.

Biochimica Et Biophysica Acta, 1993

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."