Property Summary

NCBI Gene PubMed Count 21
Grant Count 11
R01 Count 11
Funding $757,955.35
PubMed Score 75.54
PubTator Score 34.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
medulloblastoma, large-cell 1.200 0.000
cystic fibrosis -1.900 0.000
pulmonary arterial hypertension -1.200 0.025

Gene RIF (16)

PMID Text
25644735 We report both European and non-European families with acral peeling skin syndrome carrying mutations in the TGM5 gene. In 5 patients, we found 3 novel mutations: c.1001+2_1001+3del, c.1171G>A and c.1498C>T.
24628291 Data trebles the number of TMG5 mutations and provides further evidence that pCly113Cys is a founder mutation in the European population.
24518713 study concludes polymorphisms of TGM5, PPAP2B and PSMA4 are not major contributors tonon-small cell lung cancer susceptibility in never-smoking hinese population, this primarily can be attributed to the significantly distinct genetic background of Asian populations from western populations
23189155 Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
22622422 TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
22036214 analysis of a recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome
20164844 Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.
19440220 A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
18509357 TG5 full-length enzyme has very low enzymatic activity, while the 53-kDa proteolytically processed form is highly active.
16380904 A homozygous missense mutation in TGM5 abolishes epidermal TGM5 activity and causes acral peeling skin syndrome.
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AA Sequence

MAQGLEVALTDLQSSRNNVRHHTEEITVDHLLVRRGQAFNLTLYFRNRSFQPGLDNIIFVVETGPLPDLA      1 - 70
LGTRAVFSLARHHSPSPWIAWLETNGATSTEVSLCAPPTAAVGRYLLKIHIDSFQGSVTAYQLGEFILLF     71 - 140
NPWCPEDAVYLDSEPQRQEYVMNDYGFIYQGSKNWIRPCPWNYGQFEDKIIDICLKLLDKSLHFQTDPAT    141 - 210
DCALRGSPVYVSRVVCAMINSNDDNGVLNGNWSENYTDGANPAEWTGSVAILKQWNATGCQPVRYGQCWV    211 - 280
FAAVMCTVMRCLGIPTRVITNFDSGHDTDGNLIIDEYYDNTGRILGNKKKDTIWNFHVWNECWMARKDLP    281 - 350
PAYGGWQVLDATPQEMSNGVYCCGPASVRAIKEGEVDLNYDTPFVFSMVNADCMSWLVQGGKEQKLHQDT    351 - 420
SSVGNFISTKSIQSDERDDITENYKYEEGSLQERQVFLKALQKLKARSFHGSQRGAELQPSRPTSLSQDS    421 - 490
PRSLHTPSLRPSDVVQVSLKFKLLDPPNMGQDICFVLLALNMSSQFKDLKVNLSAQSLLHDGSPLSPFWQ    491 - 560
DTAFITLSPKEAKTYPCKISYSQYSQYLSTDKLIRISALGEEKSSPEKILVNKIITLSYPSITINVLGAA    561 - 630
VVNQPLSIQVIFSNPLSEQVEDCVLTVEGSGLFKKQQKVFLGVLKPQHQASIILETVPFKSGQRQIQANM    631 - 700
RSNKFKDIKGYRNVYVDFAL                                                      701 - 720
//

Text Mined References (21)

PMID Year Title
25644735 2015 Novel TGM5 mutations in acral peeling skin syndrome.
24628291 2014 Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
24518713 Association between TGM5, PPAP2B and PSMA4 polymorphisms and NSCLC in never-smoking Chinese population.
23189155 2012 Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
22622422 2012 TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
22036214 2012 A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.
20164844 2010 Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.
19654303 2009 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
19440220 2009 A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
18509357 2008 Inactive and highly active, proteolytically processed transglutaminase-5 in epithelial cells.
More...