Gene
MMP2
matrix metallopeptidase 2
- HGNC 7166(opens in a new tab)
- Ensembl gene ENSG00000087245(opens in a new tab)
- NCBI Gene 4313(opens in a new tab)
Summary
- Cytogenetic location
- 16q12.2
- Coordinates
- Chromosome 16: 55,479,198–55,506,691 (GRCh38)
- Exons
- 13 exons across 27.5 kb
- Protein
- 660 amino acids
- Also known as
- MMP-2, TBE-1
- Previous symbols
- CLG4, CLG4A
- MANE Select transcript
- ENST00000219070.9NM_004530.6
- 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.
Read MMP2, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads MMP2 yet. The test sequences your whole genome, so your data includes it all the same.
How MMP2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 3.5 kb of the gene's 27.5 kb; 1,983 of those bases code for the protein.
How a genome test reads MMP2
16
positions in MMP2 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 27.5 kb of MMP2, introns included, not only the 3.5 kb of exons.
Traits linked to MMP2
The Human Phenotype Ontology lists these as features of the rare conditions MMP2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Broad shaft of long bone of hand
- Broad wide portion of long bone
- Interphalangeal joint contracture of finger
- Interphalangeal joint erosions
- Metacarpal osteolysis
- Metatarsal osteolysis
- Osteolysis involving tarsal bones
- Thin metacarpal cortices
Show 18 more traits
- Thin metatarsal cortices
- Wide long bone of foot
- Wide long bones of hand
- Abnormal shape of hand
- Carpal osteolysis
- Osteolysis involving bones of the lower limbs
- Osteolysis involving bones of the upper limbs
- Abnormally indented hip sockets
- Ankle flexion contracture
- Ankylosis of feet small joints
- Camptodactyly of toe
- Distal tapering of metatarsals
- Dropped arches
- Finger swelling
- High-arched foot
- Hip contracture
- Split hand
- Wrist flexion contracture
Abnormality of the cardiovascular system
- Abnormality of the cardiovascular system
- An opening in the wall separating the top two chambers of the heart
- Aortic valve has two leaflets rather than three
- Double outlet right ventricle
- High blood pressure
- Hole in heart wall separating two lower heart chambers
- Interruption of electrical communication between upper and lower chambers of heart
- Mitral valve prolapse
Show 1 more trait
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.). MMP2 gene: matrix metallopeptidase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/mmp2
Dante Labs. MMP2 gene: matrix metallopeptidase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mmp2
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks