Skip to content
Use your HSA or FSA funds

Gene

MATR3

matrin 3

Summary

Cytogenetic location
5q31.2
Coordinates
Chromosome 5: 139,293,740–139,331,677 (GRCh38)
Exons
15 exons across 37.9 kb
Protein
847 amino acids
Also known as
KIAA0723, MGC9105, VCPDM
Previous symbols
MPD2
MANE Select transcript
ENST00000394805.8NM_018834.6
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 reports relevant to this gene

  • Amyotrophic Lateral Sclerosis (ALS)

    • Amyotrophic Lateral Sclerosis

      A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.

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

      Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members

  • Distal Myopathies

    • Distal myopathy

      A group of inherited muscle disorders in which weakness starts in the hands, forearms, lower legs or feet, caused by genes such as TTN, DYSF, FLNC, MYH7, ADSS1, SMPX and MATR3.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong

How MATR3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where MATR3 sits. MATR3 and 16 genes near it on chromosome 5, from 138,812,709 to 139,812,708.Chromosome 55q31.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3139 Mb139.2 Mb139.4 Mb139.6 Mb139.8 MbCTNNA1: 138,610,967–138,935,039, forward strandCTNNA1LRRTM2: 138,868,921–138,875,383, reverse strandLRRTM2SIL1: 138,886,914–139,293,557, reverse strandSIL1MATR3: 139,293,740–139,331,677, forward strandMATR3PAIP2: 139,341,587–139,369,733, forward strandPAIP2SLC23A1: 139,366,642–139,385,495, reverse strandSLC23A1MZB1: 139,387,467–139,390,081, reverse strandMZB1PROB1: 139,390,592–139,395,104, reverse strandPROB1SPATA24: 139,396,563–139,404,094, reverse strandDNAJC18: 139,408,588–139,444,491, reverse strand: 139,442,316–139,462,707, reverse strandECSCR: 139,446,541–139,462,751, reverse strandECSCRSMIM33: 139,471,004–139,474,650, forward strandSMIM33STING1: 139,475,528–139,482,935, reverse strandUBE2D2: 139,526,431–139,633,291, forward strandUBE2D2CXXC5: 139,646,375–139,683,882, forward strandCXXC5PSD2: 139,795,606–139,844,470, forward strandPSD2Diagram of MATR3: 15 exons on the forward strand of chromosome 5Exon 2: 1 known disease-causing siteExon 1: 139,293,740–139,293,805, 66 basesExon 2: 139,307,239–139,308,327, 1,089 basesExon 3: 139,314,675–139,314,736, 62 basesExon 4: 139,315,697–139,315,738, 42 basesExon 5: 139,316,076–139,316,188, 113 basesExon 6: 139,317,053–139,317,105, 53 basesExon 7: 139,317,596–139,317,721, 126 basesExon 8: 139,318,908–139,319,033, 126 basesExon 9: 139,319,334–139,319,501, 168 basesExon 10: 139,321,898–139,322,029, 132 basesExon 11: 139,322,463–139,322,506, 44 basesExon 12: 139,322,598–139,322,967, 370 basesExon 13: 139,325,440–139,325,662, 223 basesExon 14: 139,326,163–139,326,284, 122 basesExon 15: 139,329,345–139,331,677, 2,333 bases1510155′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 5.1 kb of the gene's 37.9 kb; 2,544 of those bases code for the protein.

How a genome test reads MATR3

1

position in MATR3 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (100%) falls in a region short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (1 site)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 37.9 kb of MATR3, introns included, not only the 5.1 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.). MATR3 gene: matrin 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/matr3

Vancouver

Dante Labs. MATR3 gene: matrin 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/matr3

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test