TGM3 (transglutaminase 3)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7053
Gene name Gene Name - the full gene name approved by the HGNC.
Transglutaminase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TGM3
Synonyms (NCBI Gene) Gene synonyms aliases
TGE, UHS2
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600238 11779 ENSG00000125780
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Uncombable Hair Syndrome Uncombable hair syndrome 2 rs779702016 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carcinoma Basal cell carcinoma N/A N/A GWAS
Sarcoidosis Sarcoidosis N/A N/A GWAS
Show/Hide Text Mining Associations (23)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 24731980
Breast Neoplasms Associate 36352274
Carcinogenesis Associate 16804985, 19522851, 29953521
Carcinoma Basal Cell Associate 24403052
Carcinoma Squamous Cell Associate 38086165
Colorectal Neoplasms Inhibit 32020212
Darier Disease Associate 12230511
Dermatitis Atopic Associate 21211653
Esophageal Neoplasms Inhibit 16804985
Esophageal Squamous Cell Carcinoma Inhibit 16804985