Gene Gene information from NCBI Gene database.
Entrez ID 7052
Gene name Transglutaminase 2
Gene symbol TGM2
Synonyms (NCBI Gene)
G(h)TG(C)TGChTG2tTG
Chromosome 20
Chromosome location 20q11.23
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
miRNA miRNA information provided by mirtarbase database.
552
miRTarBase ID miRNA Experiments Reference
MIRT006814 hsa-miR-1285-3p ImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot 22294552
MIRT006814 hsa-miR-1285-3p ImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot 22294552
MIRT019710 hsa-miR-375 Microarray 20215506
MIRT020574 hsa-miR-155-5p Proteomics 18668040
MIRT025339 hsa-miR-34a-5p Proteomics 21566225
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
80
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000785 Component Chromatin IDA 9575137
GO:0000786 Component Nucleosome IDA 30867594, 32273471
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IBA
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IDA 7649299, 9252372, 12506096, 23941696
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
190196 11778 ENSG00000198959
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P21980
Protein name Protein-glutamine gamma-glutamyltransferase 2 (EC 2.3.2.13) (Erythrocyte transglutaminase) (Heart G alpha(h)) (hhG alpha(h)) (Isopeptidase TGM2) (EC 3.4.-.-) (Protein G alpha(h)) (G(h)) (Protein-glutamine deamidase TGM2) (EC 3.5.1.44) (Protein-glutamine d
Protein function Calcium-dependent acyltransferase that catalyzes the formation of covalent bonds between peptide-bound glutamine and various primary amines, such as gamma-amino group of peptide-bound lysine, or mono- and polyamines, thereby producing cross-link
PDB 1KV3 , 2Q3Z , 3LY6 , 3S3J , 3S3P , 3S3S , 4PYG , 6A8P , 6KZB , 8TR9 , 9BC2 , 9BC3 , 9BC4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00868 Transglut_N 4 122 Transglutaminase family Domain
PF01841 Transglut_core 255 359 Transglutaminase-like superfamily Family
PF00927 Transglut_C 473 573 Transglutaminase family, C-terminal ig like domain Domain
PF00927 Transglut_C 587 686 Transglutaminase family, C-terminal ig like domain Domain
Sequence
Sequence length 687
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Huntington disease  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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)
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
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 11755920
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 1358880, 23817628
★☆☆☆☆
Found in Text Mining only
Acute intermittent porphyria Intermittent Porphyria BEFREE 30149525
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 20739659, 30237268
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15610449, 23853482, 24828664
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17440814, 18381937
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 25934693
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 10918174
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 9712408
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 7943181
★☆☆☆☆
Found in Text Mining only