TGM5 (transglutaminase 5)

2015-02-01  

Identity

HGNC
LOCATION
15q15.2
LOCUSID
ALIAS
PSS2,TGASE5,TGASEX,TGM6,TGMX,TGX
FUSION GENES

Other Information

Locus ID:

NCBI: 9333
MIM: 603805
HGNC: 11781
Ensembl: ENSG00000104055

Variants:

dbSNP: 9333
ClinVar: 9333
TCGA: ENSG00000104055
COSMIC: TGM5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104055ENST00000220420O43548
ENSG00000104055ENST00000349114O43548
ENSG00000104055ENST00000610827A0A087WVW4
ENSG00000104055ENST00000611276A0A087WZC4
ENSG00000104055ENST00000622115A0A087WVS3

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

References

Pubmed IDYearTitleCitations
163809042005A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.22
122305112002Expression of transglutaminase 5 in normal and pathologic human epidermis.19
194402202009A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.6
226224222012TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.6
161178042005Transglutaminase 5 expression in human hair follicle.4
246282912014Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.3
256447352015Novel TGM5 mutations in acral peeling skin syndrome.3
231891552012Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.2
201648442010Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.1
220362142012A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.1

Citation

Dessen P

TGM5 (transglutaminase 5)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55043/tgm5