Gene
MMP13
matrix metallopeptidase 13
- HGNC 7159↗(opens in a new tab)
- Ensembl gene ENSG00000137745↗(opens in a new tab)
- NCBI Gene 4322↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q22.2
- Coordinates
- Chromosome 11: 102,942,995–102,955,732 (GRCh38)
- Exons
- 10 exons across 12.7 kb
- Protein
- 471 amino acids
- Also known as
- CLG3
- MANE Select transcript
- ENST00000260302.8NM_002427.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads MMP13 yet. The test sequences your whole genome, so your data includes it all the same.
How MMP13 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.7 kb of the gene's 12.7 kb; 1,416 of those bases code for the protein.
How a genome test reads MMP13
6
positions in MMP13 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 12.7 kb of MMP13, introns included, not only the 2.7 kb of exons.
Traits linked to MMP13
The Human Phenotype Ontology lists these as features of the rare conditions MMP13 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Bowed legs
- Metaphyseal dysplasia
- Abnormal morphology of ulna
- Abnormal ulnar metaphysis morphology
- Abnormality of the lower limb
- Abnormality of the wide portion of a long bone
- Aplasia/Hypoplasia of the radius
- Bowing of the long bones
Show 18 more traits
- Metaphyseal chondrodysplasia
- Outward bow-leggedness
- Progressive leg bowing
- Short lower limbs
- Bowed shankbone
- Bowed thighbone
- Flared wide portion of long bone
- Irregular wide portion of a long bone
- Knee osteoarthritis
- Bowing of outer large bone of the forearm
- Broad wide portion of long bone
- Coxa vara
- Curving of inner forearm bone
- Disproportionately short upper portion of limb
- Increased bone density in wide portion of long bone
- Knock knees
- Limited elbow extension
- Metaphyseal cupping
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MMP13 gene: matrix metallopeptidase 13. Retrieved 17 October 2026, from https://dantelabs.com/genes/mmp13
Dante Labs. MMP13 gene: matrix metallopeptidase 13 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mmp13
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