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Gene

MATN3

matrilin 3

Summary

Cytogenetic location
2p24.1
Coordinates
Chromosome 2: 19,992,052–20,012,668 (GRCh38)
Exons
8 exons across 20.6 kb
Protein
486 amino acids
Also known as
EDM5, HOA
MANE Select transcript
ENST00000407540.8NM_002381.5
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

  • Epiphyseal and Spondyloepiphyseal Dysplasias

    • Multiple epiphyseal dysplasia

      A group of conditions affecting the ends of the long bones, causing joint pain and stiffness and early osteoarthritis, caused by genes including COMP, MATN3, COL9A1, COL9A2, COL9A3 and SLC26A2.

      • 4 GenCC submitters rate it definitive or strong

How MATN3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 2, with a bracket where MATN3 sits. MATN3 and 6 genes near it on chromosome 2, from 19,502,360 to 20,502,359.Chromosome 22p24.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.319.6 Mb19.8 Mb20 Mb20.2 Mb20.4 MbTTC32: 19,896,631–19,902,282, reverse strandTTC32WDR35: 19,910,260–19,990,162, reverse strandWDR35MATN3: 19,992,052–20,012,668, reverse strandMATN3LAPTM4A: 20,032,648–20,052,054, reverse strandLAPTM4ASDC1: 20,200,796–20,225,512, reverse strandSDC1PUM2: 20,248,692–20,352,234, reverse strandPUM2RHOB: 20,447,074–20,449,440, forward strandRHOBDiagram of MATN3: 8 exons on the reverse strand of chromosome 2Exon 2: 5 known disease-causing sitesExon 1: 1 known disease-causing siteExon 8: 19,992,052–19,993,166, 1,115 basesExon 7: 19,994,299–19,994,409, 111 basesExon 6: 19,997,134–19,997,259, 126 basesExon 5: 20,000,441–20,000,566, 126 basesExon 4: 20,001,955–20,002,080, 126 basesExon 3: 20,003,161–20,003,286, 126 basesExon 2: 20,005,744–20,006,310, 567 basesExon 1: 20,012,409–20,012,668, 260 bases876543215′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 2.6 kb of the gene's 20.6 kb; 1,461 of those bases code for the protein.

How a genome test reads MATN3

7

positions in MATN3 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 20.6 kb of MATN3, introns included, not only the 2.6 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.). MATN3 gene: matrilin 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/matn3

Vancouver

Dante Labs. MATN3 gene: matrilin 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/matn3

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