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Gene

MMP21

matrix metallopeptidase 21

Summary

Cytogenetic location
10q26.2
Coordinates
Chromosome 10: 125,766,453–125,775,821 (GRCh38)
Exons
7 exons across 9.4 kb
Protein
569 amino acids
MANE Select transcript
ENST00000368808.3NM_147191.1
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Heterotaxy & Laterality Defects

    • Visceral Heterotaxy

      Abnormal left-right arrangement of the internal organs, caused by changes in genes such as ZIC3 (X-linked), NODAL, CFC1, MMP21 and PKD1L1, often with complex heart defects and spleen abnormalities.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports heart and abdominal imaging, infection precautions if the spleen is absent, and reproductive counselling.

How MMP21 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 10, with a bracket where MMP21 sits. MMP21 and 7 genes near it on chromosome 10, from 125,271,137 to 126,271,136.Chromosome 1010q26.2p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.3125.4 Mb125.6 Mb125.8 Mb126 Mb126.2 MbTEX36: 125,576,522–125,683,163, reverse strandTEX36EDRF1: 125,719,515–125,764,232, forward strandEDRF1MMP21: 125,766,453–125,775,821, reverse strandMMP21UROS: 125,784,980–125,823,288, reverse strandUROSBCCIP: 125,823,523–125,854,471, forward strandBCCIPDHX32: 125,836,334–125,896,514, reverse strandDHX32FANK1: 125,896,525–126,009,595, forward strandFANK1ADAM12: 126,012,381–126,388,502, reverse strandADAM12Diagram of MMP21: 7 exons on the reverse strand of chromosome 10Exon 6: 2 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 3 known disease-causing sitesExon 7: 125,766,453–125,766,961, 509 basesExon 6: 125,767,532–125,767,704, 173 basesExon 5: 125,770,334–125,770,591, 258 basesExon 4: 125,772,218–125,772,359, 142 basesExon 3: 125,772,611–125,772,750, 140 basesExon 2: 125,773,831–125,774,365, 535 basesExon 1: 125,775,660–125,775,821, 162 bases76543215′3′

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 1.9 kb of the gene's 9.4 kb; 1,710 of those bases code for the protein.

How a genome test reads MMP21

8

positions in MMP21 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 9.4 kb of MMP21, introns included, not only the 1.9 kb of exons.

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.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • 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

APA

Dante Labs. (n.d.). MMP21 gene: matrix metallopeptidase 21. Retrieved 17 October 2026, from https://dantelabs.com/genes/mmp21

Vancouver

Dante Labs. MMP21 gene: matrix metallopeptidase 21 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mmp21

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