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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
24
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Uncombable hair syndrome 2 Pathogenic rs779702016 RCV000415528
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs4097062 RCV005935550
Cholangiocarcinoma Benign rs4097062 RCV005935552
Malignant tumor of esophagus Benign rs4097062 RCV005935551
TGM3-related disorder Uncertain significance; Likely benign; Benign rs151074346, rs146717993, rs369738624, rs6048066, rs214814, rs4097062, rs214803, rs749279971, rs199587679, rs150949349, rs137939351, rs45518834, rs7262519, rs76528811, rs376202925
View all (4 more)		 RCV003402192
RCV003907162
RCV003904477
RCV003984613
RCV003982544
RCV003974004
RCV003977380
RCV003892259
RCV003941766
RCV003941849
RCV003961790
RCV003949794
RCV003914329
RCV003934420
RCV003949484
RCV003976898
RCV003943229
RCV003910394
RCV003950812
Show/Hide Text Mining Associations (23)
Associations from Text MiningDisease 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