TGM7 (Transglutaminase 7)
A member of the transglutaminase family involved in protein crosslinking and cellular differentiation
Gene Information Card
| Symbol | TGM7 |
|---|---|
| Full Name | Transglutaminase 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.2 |
| NCBI Gene ID | 116092 ncbi.nlm.nih.gov/gene/116092 |
| Ensembl ID | ENSG00000137868 |
| UniProt ID | Q96PF1 |
| OMIM ID | 606251 |
| HGNC ID | 11776 |
| Aliases | TG7, TGM7L, TGase7 |
Description
TGM7 (Transglutaminase 7) is a protein-coding gene that belongs to the transglutaminase family. Transglutaminases catalyze the crosslinking of proteins via epsilon-(gamma-glutamyl)lysine isopeptide bonds. TGM7 is expressed in various tissues and is involved in cellular processes such as differentiation, apoptosis, and extracellular matrix stabilization. The gene is located on chromosome 15q15.2 and encodes a 710-amino acid protein.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect tumor progression through modulation of cell adhesion and signaling | COSMIC database reports somatic mutations in multiple cancer types |
| Neurodegenerative disorders | Potential involvement in protein aggregation via crosslinking activity | Limited evidence; under investigation |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.6 | Low |
| Esophagus | 0.4 | Low |
| Prostate | 0.3 | Low |
| Testis | 0.2 | Low |
| Lung | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 0.8 | Moderate expression in skin-derived cells |
| A549 (lung carcinoma) | 0.2 | Low expression |
| MCF7 (breast cancer) | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | <0.01% | Unknown functional impact |
| c.1576C>T (p.Arg526Cys) | Missense | <0.01% | Reported in COSMIC; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants may reduce transglutaminase activity, affecting protein crosslinking.
Gain of Function (GOF)
Not reported for TGM7.
Dominant Negative (DN)
Not reported for TGM7.
View complete mutation data：
Gene Ontology (GO)
| • protein-glutamine gamma-glutamyltransferase activity (GO:0003810) | • peptide crosslinking (GO:0018149) |
| • plasma membrane (GO:0005886) | • cytoplasm (GO:0005737) |
Pathways
• Transglutaminase-mediated protein crosslinking
• Extracellular matrix organization
Protein Summary
Transglutaminase 7 (TGM7) is a 710-amino acid protein that catalyzes calcium-dependent crosslinking of proteins. It is involved in the formation of isopeptide bonds between glutamine and lysine residues, contributing to protein stabilization and matrix assembly. TGM7 is expressed at low levels in several tissues, with highest expression in skin and esophagus. Its biological role is not fully elucidated, but it may participate in epithelial differentiation and barrier function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TGM7 Knockout HEK293 Cell Line | EDJ-KQ7552 | Human | 116179 | Details Get a Quote |
| TGM7 Knockout HeLa Cell Line | EDJ-KQ57974 | Human | 116179 | Details Get a Quote |
| TGM7 Knockout A-549 Cell Line | EDJ-KQ66464 | Human | 116179 | Details Get a Quote |
| TGM7 Knockout HCT 116 Cell Line | EDJ-KQ74885 | Human | 116179 | Details Get a Quote |
