Identity
HGNC
LOCATION
15q15.2
LOCUSID
ALIAS
PSS2,TGASE5,TGASEX,TGM6,TGMX,TGX
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9333
MIM: 603805
HGNC: 11781
Ensembl: ENSG00000104055
Variants:
dbSNP: 9333
ClinVar: 9333
TCGA: ENSG00000104055
COSMIC: TGM5
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Developmental Biology | REACTOME | R-HSA-1266738 |
| Keratinization | REACTOME | R-HSA-6805567 |
| Formation of the cornified envelope | REACTOME | R-HSA-6809371 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32618001 | 2020 | Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis. | 0 |
| 32618001 | 2020 | Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis. | 0 |
| 25510201 | 2016 | Acral peeling skin syndrome resulting from mutations in TGM5. | 2 |
| 25510201 | 2016 | Acral peeling skin syndrome resulting from mutations in TGM5. | 2 |
| 25644735 | 2015 | Novel TGM5 mutations in acral peeling skin syndrome. | 5 |
| 25644735 | 2015 | Novel TGM5 mutations in acral peeling skin syndrome. | 5 |
| 24628291 | 2014 | Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. | 5 |
| 24628291 | 2014 | Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. | 5 |
| 24518713 | 2013 | Association between TGM5, PPAP2B and PSMA4 polymorphisms and NSCLC in never-smoking Chinese population. | 1 |
| 24518713 | 2013 | Association between TGM5, PPAP2B and PSMA4 polymorphisms and NSCLC in never-smoking Chinese population. | 1 |
| 22036214 | 2012 | A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. | 1 |
| 22622422 | 2012 | TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. | 10 |
| 23189155 | 2012 | Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis. | 5 |
| 22036214 | 2012 | A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. | 1 |
| 22622422 | 2012 | TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. | 10 |
Citation
Dessen P
TGM5 (transglutaminase 5)
Atlas Genet Cytogenet Oncol Haematol. 2015-02-01
Online version: http://atlasgeneticsoncology.org/gene/55043/tgm5-(transglutaminase-5)
