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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TGM3
transglutaminase 3
Chromosome 20 · 20p13
NCBI Gene: 7053Ensembl: ENSG00000125780.12HGNC: HGNC:11779UniProt: Q08188
149PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein-glutamine gamma-glutamyltransferase activitycatalytic activitystructural molecule activitycalcium ion bindingbasal cell carcinomaskin neoplasmskin cancercancer
✦AI Summary

TGM3 (transglutaminase 3) catalyzes calcium-dependent isopeptide cross-linking between glutamine and lysine residues in proteins and mediates polyamine conjugation 1. In normal physiology, TGM3 functions as a pro-enzyme activated by proteolysis, primarily expressed in terminally differentiating epidermal and hair follicle keratinocytes 2. It catalyzes cross-linking of small proline-rich proteins (SPRR1/SPRR2) and loricrin to form the cornified envelope, a critical component of the epidermal barrier 1. TGM3 also hardens the hair follicle inner root sheath through structural protein cross-linking 1. Despite its barrier-protective function, TGM3 exhibits complex, context-dependent roles in cancer. In head and neck cancer, TGM3 functions as a tumor suppressor—downregulated via promoter CpG hypermethylation, with low expression predicting worse survival 3. Similarly, in cutaneous squamous carcinoma, TGM3 acts as a differentiation marker and tumor suppressor via PI3K-AKT pathway inhibition and KRT14 degradation 4. However, in hepatocellular carcinoma, TGM3 is overexpressed and promotes epithelial-mesenchymal transition and poor prognosis 5. In metastatic contexts, TGM3 transamidates Exo70 to promote tumor cell migration and invasion, opposed by LKB1-mediated phosphorylation 6. Pan-cancer analyses reveal TGM3 as a prognostic biomarker correlating with clinical stage and inversely with immune infiltration 7. Mutations in TGM3 cause uncombable hair syndrome 2, emphasizing its structural protein function 1.

Sources cited
1
TGM3 (transglutaminase 3) catalyzes calcium-dependent isopeptide cross-linking between glutamine and lysine residues in proteins and mediates polyamine conjugation .
PMID: 32872587
2
In normal physiology, TGM3 functions as a pro-enzyme activated by proteolysis, primarily expressed in terminally differentiating epidermal and hair follicle keratinocytes .
PMID: 7913719
3
In head and neck cancer, TGM3 functions as a tumor suppressor—downregulated via promoter CpG hypermethylation, with low expression predicting worse survival .
PMID: 24289313
4
Similarly, in cutaneous squamous carcinoma, TGM3 acts as a differentiation marker and tumor suppressor via PI3K-AKT pathway inhibition and KRT14 degradation .
PMID: 38589352
5
However, in hepatocellular carcinoma, TGM3 is overexpressed and promotes epithelial-mesenchymal transition and poor prognosis .
PMID: 31822388
6
In metastatic contexts, TGM3 transamidates Exo70 to promote tumor cell migration and invasion, opposed by LKB1-mediated phosphorylation .
PMID: 39146185
7
Pan-cancer analyses reveal TGM3 as a prognostic biomarker correlating with clinical stage and inversely with immune infiltration .
PMID: 36685895
Disease Associationsⓘ21
basal cell carcinomaOpen Targets
0.54Moderate
skin neoplasmOpen Targets
0.53Moderate
skin cancerOpen Targets
0.52Moderate
cancerOpen Targets
0.49Moderate
uncombable hair syndromeOpen Targets
0.47Moderate
non-melanoma skin carcinomaOpen Targets
0.47Moderate
cutaneous melanomaOpen Targets
0.42Moderate
uncombable hair syndrome 2Open Targets
0.35Weak
squamous cell carcinomaOpen Targets
0.33Weak
keratinocyte carcinomaOpen Targets
0.33Weak
cholelithiasisOpen Targets
0.31Weak
actinic keratosisOpen Targets
0.24Weak
ringed hair diseaseOpen Targets
0.11Weak
pili bifurcatiOpen Targets
0.11Weak
uncombable hair syndrome 3Open Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
wooly hair, autosomal recessive 3Open Targets
0.09Suggestive
palmoplantar keratoderma, epidermolytic, 2Open Targets
0.09Suggestive
hypotrichosis 4Open Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
Uncombable hair syndrome 2UniProt
Pathogenic Variants1
NM_003245.4(TGM3):c.1351C>T (p.Gln451Ter)Pathogenic
Uncombable hair syndrome 2
☆☆☆☆2017→ Residue 451
View on ClinVar ↗
Related Genes
FLG2Protein interaction100%CDSNProtein interaction91%FLGProtein interaction91%CST6Protein interaction87%LGMNProtein interaction87%SBSNProtein interaction83%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
32%
Lung
13%
Ovary
10%
Brain
5%
Heart
0%
Gene Interaction Network
Click a node to explore
TGM3FLG2CDSNFLGCST6LGMNSBSN
PROTEIN STRUCTURE
Preparing viewer…
PDB8OXW · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.57–0.90]
RankingsWhere TGM3 stands among ~20K protein-coding genes
  • #3,053of 20,598
    Most Researched149 · top quartile
  • #4,776of 5,498
    Most Pathogenic Variants1
  • #8,049of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedTGM3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TGM3, a candidate tumor suppressor gene, contributes to human head and neck cancer.
PMID: 24289313
Mol Cancer · 2013
1.00
2
Molecular correlates for HPV-negative head and neck cancer engraftment prognosticate patient outcomes.
PMID: 39738080
Nat Commun · 2024
0.90
3
TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis upon LKB1 inactivation.
PMID: 39146185
Cell Rep · 2024
0.80
4
TGM3 promotes epithelial-mesenchymal transition and hepatocellular carcinogenesis and predicts poor prognosis for patients after curative resection.
PMID: 31822388
Dig Liver Dis · 2020
0.70
5
Clinical and immunological characteristics of TGM3 in pan-cancer: A potential prognostic biomarker.
PMID: 36685895
Front Genet · 2022
0.60