Gene: TGM5

Alternate names for this Gene: PSS2|TGASE5|TGASEX|TGM6|TGMX|TGX

Gene Summary: This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome.

Gene is located in Chromosome: 15

Location in Chromosome : 15q15.2

Description of this Gene: transglutaminase 5

Type of Gene: protein-coding

rs748404 in TGM5 gene and Carcinoma of lung PMID 19654303 2009 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.

rs471122 in TGM5 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs748404 in TGM5 gene and Malignant neoplasm of lung PMID 19654303 2009 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.

rs748404 in TGM5 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs112292549 in TGM5 gene and Peeling skin syndrome, acral type PMID 16380904 2005 A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.

PMID 24019772 2013 DNA mutation analysis detected two heterozygous TGM5 mutations: c.2T>C, p.M1T in exon 1 and c.337G>T, p.G113C in exon 3 in keeping with the diagnosis of APSS.

PMID 24628291 2014 Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.

PMID 22622422 2012 The recurrent mutation p.G113C was found in 9 patients, but also in 3 of 100 control individuals in a heterozygous state, indicating that APSS might be more widespread than hitherto expected.

PMID 22036214 2012 A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.

PMID 26707537 2016 Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.

PMID 20164844 2010 Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.

PMID 29242947 2018 The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.

PMID 25644735 2015 Novel TGM5 mutations in acral peeling skin syndrome.

rs542036 in TGM5 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.