TGM5

Chr 15q15.2

transglutaminase 5

Aliases:: TGX, TGMX
MANE:: ENST00000220420.10

OMIM: 603805 ↗NCBI: 9333 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TGM5 · O43548

v62025-08-01

Predicted Aligned Error matrix for TGM5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.5/ 100

Very high

720 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)11%
Low(50–70)2%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Epidermolysis bullosa
BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Peeling skin syndrome
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

acral peeling skin syndrome
0.78
hereditary disease
0.47
peeling skin syndrome 1
0.41
benign neoplasm of eye
0.27
mathematical ability
0.26
breast carcinoma
0.04
non-small cell lung carcinoma
0.04
esophageal adenocarcinoma
0.03
Barrett esophagus
0.03
glioblastoma
0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein-glutamine gamma-glutamyltransferase 5

Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes