TGM3 (transglutaminase 3)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 7053
Gene name Transglutaminase 3
Gene symbol TGM3
Synonyms (NCBI Gene)
TGEUHS2
Chromosome 20
Chromosome location 20p13
Summary Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs779702016 C>G,T Pathogenic Missense variant, coding sequence variant, stop gained
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IBA
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IDA 8099584, 12679341, 21282207
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IEA
GO:0003824 Function Catalytic activity IDA 8099584
GO:0005198 Function Structural molecule activity IDA 5038456
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600238 11779 ENSG00000125780
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q08188
Protein name Protein-glutamine gamma-glutamyltransferase E (EC 2.3.2.13) (Transglutaminase E) (TG(E)) (TGE) (TGase E) (Transglutaminase-3) (TGase-3) [Cleaved into: Protein-glutamine gamma-glutamyltransferase E 50 kDa catalytic chain; Protein-glutamine gamma-glutamyltr
Protein function Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a spec
PDB 1L9M , 1L9N , 1NUD , 1NUF , 1NUG , 8OXV , 8OXW , 8OXX , 8OXY , 8RMX , 8RMY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00868 Transglut_N 3 → 118 Transglutaminase family Domain
PF01841 Transglut_core 240 → 355 Transglutaminase-like superfamily Family
PF00927 Transglut_C 483 → 588 Transglutaminase family, C-terminal ig like domain Domain
PF00927 Transglut_C 595 → 693 Transglutaminase family, C-terminal ig like domain Domain
Sequence
Sequence length 693
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
40
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Uncombable hair syndrome 2 Pathogenic rs779702016 RCV000415528
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (39)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (54)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Areata Alopecia Areata HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 24731980 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Basal Cell Cancer Basal Cell Neoplasm GWASCAT_DG 24403052, 25855136, 27539887, 31174203
★★★★★
★☆☆☆☆
Found in Text Mining only
Basal cell carcinoma Carcinoma GWASCAT_DG 24403052, 25855136, 27539887, 31174203
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm Basal Cell Neoplasm GWASCAT_DG 24403052, 25855136, 27539887, 31174203
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36352274 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 16804985, 19522851, 29953521 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 24403052 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 38086165 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Basal Cell Carcinoma BEFREE 24403052, 31647461
★★★★★
★☆☆☆☆
Found in Text Mining only