TNMD (Tenomodulin)
A gene encoding an angiogenesis inhibitor and regulator of tendon development
Gene Information Card
| Symbol | TNMD |
|---|---|
| Full Name | Tenomodulin |
| Gene Type | protein-coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 64102 ncbi.nlm.nih.gov/gene/64102 |
| Ensembl ID | ENSG00000100033 |
| UniProt ID | Q9H2S6 |
| OMIM ID | 300459 |
| HGNC ID | 17757 |
| Aliases | CHM1L, TeM, tendin, myodulin |
Description
TNMD encodes tenomodulin, a type II transmembrane glycoprotein predominantly expressed in tendons and ligaments. It functions as an angiogenesis inhibitor and is essential for tendon development, maturation, and repair. The protein contains a C-terminal BRICHOS domain and a cleavable N-terminal signal peptide.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tendinopathy | Reduced TNMD expression leads to impaired tendon healing and increased susceptibility to degeneration. | NCBI Gene, OMIM |
| Osteoarthritis | TNMD downregulation in joint tissues may contribute to cartilage degradation and inflammation. | NCBI Gene |
| Colorectal cancer | TNMD promoter hypermethylation and reduced expression are associated with tumor progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tendon | 12.5 | High |
| Skeletal muscle | 3.2 | Low |
| Heart | 1.8 | Low |
| Lung | 0.5 | Not detected |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Tenocytes | 15.0 | Primary tendon cells |
| C2C12 (myoblast) | 0.8 | Low expression |
| HeLa | 0.1 | Not detected |
| HCT116 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.235C>T (p.Arg79Cys) | missense | <0.01% | Unknown significance |
| c.487G>A (p.Gly163Ser) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to premature stop codons or start codon loss are predicted to cause loss of function, impairing tendon development and repair.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TNMD.
Dominant Negative (DN)
No dominant-negative mutations have been described for TNMD.
View complete mutation data：
Gene Ontology (GO)
| • angiogenesis (GO:0001525) | • protein binding (GO:0005515) |
| • integral component of membrane (GO:0016021) | • extracellular matrix organization (GO:0030198) |
| • skin development (GO:0043588) | • muscle tissue morphogenesis (GO:0060415) |
Pathways
• Angiogenesis inhibition pathway
• Tendon development and repair pathway
Protein Summary
Tenomodulin is a 317-amino acid type II transmembrane protein with a BRICHOS domain (residues 127-317) that mediates anti-angiogenic activity. It is cleaved by furin-like proteases to release a soluble C-terminal fragment. The protein is critical for tenocyte proliferation and collagen fibril organization in tendons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNMD Knockout HEK293 Cell Line | EDJ-KQ15873 | Human | 64102 | Details Get a Quote |
| TNMD Knockout HeLa Cell Line | EDJ-KQ57027 | Human | 64102 | Details Get a Quote |
| TNMD Knockout A-549 Cell Line | EDJ-KQ65533 | Human | 64102 | Details Get a Quote |
| TNMD Knockout HCT 116 Cell Line | EDJ-KQ73968 | Human | 64102 | Details Get a Quote |
