MMP21
Matrix Metallopeptidase 21
Gene Information Card
| Symbol | MMP21 |
|---|---|
| Full Name | Matrix Metallopeptidase 21 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.2 |
| NCBI Gene ID | 118856 ncbi.nlm.nih.gov/gene/118856 |
| Ensembl ID | ENSG00000154485 |
| UniProt ID | Q8N119 |
| OMIM ID | 608416 |
| HGNC ID | 7178 |
| Aliases | MMP-21, MMT-1 |
Description
MMP21 (Matrix Metallopeptidase 21) is a protein-coding gene belonging to the matrix metalloproteinase (MMP) family. These enzymes are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, including cancer metastasis and fibrosis. MMP21 is specifically expressed during embryonic development and in certain adult tissues, and its dysregulation has been implicated in congenital heart defects and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heterotaxy Syndrome | Loss-of-function mutations in MMP21 disrupt left-right patterning during embryonic development, leading to visceral heterotaxy and congenital heart defects. | ClinVar, OMIM |
| Congenital Heart Disease | MMP21 mutations are associated with complex congenital heart defects, including transposition of the great arteries and double outlet right ventricle. | ClinVar, OMIM |
| Cancer (various) | Altered MMP21 expression contributes to tumor invasion and metastasis through extracellular matrix degradation. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 0.3 | Low |
| Lung | 0.1 | Low |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not detected |
| HEK 293 | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.589C>T (p.Arg197Ter) | Nonsense | <0.01% | Loss of function; truncation of protein |
| c.1045G>A (p.Gly349Arg) | Missense | <0.01% | Likely loss of function; impaired catalytic activity |
| c.1A>G (p.Met1Val) | Missense | <0.01% | Loss of function; start codon loss |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations in MMP21 lead to loss of enzymatic activity, disrupting extracellular matrix remodeling and causing developmental defects such as heterotaxy.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MMP21.
Dominant Negative (DN)
No dominant-negative mutations have been reported for MMP21.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • extracellular matrix disassembly |
| • proteolysis | • zinc ion binding |
| • extracellular space |
Pathways
• Matrix Metalloproteinases
• Extracellular matrix organization
• Degradation of the extracellular matrix
Protein Summary
MMP21 is a matrix metalloproteinase that degrades components of the extracellular matrix, including collagens and gelatin. It is synthesized as a zymogen and activated by proteolytic cleavage. MMP21 is involved in embryonic development, particularly in left-right patterning and cardiac morphogenesis. Its expression is low in most adult tissues but can be upregulated in certain cancers, where it may promote tumor invasion and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MMP21 Knockout HEK293 Cell Line | EDJ-KQ7632 | Human | 118856 | Details Get a Quote |
| MMP21 Knockout HCT 116 Cell Line | EDJ-KQ32981 | Human | 118856 | Details Get a Quote |
| MMP21 Knockout HeLa Cell Line | EDJ-KQ58033 | Human | 118856 | Details Get a Quote |
| MMP21 Knockout A-549 Cell Line | EDJ-KQ66520 | Human | 118856 | Details Get a Quote |
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