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Gene

TIMP3

TIMP metallopeptidase inhibitor 3

Summary

Cytogenetic location
22q12.3
Coordinates
Chromosome 22: 32,801,705–32,863,041 (GRCh38)
Exons
5 exons across 61.3 kb
Protein
211 amino acids
Inheritance
Autosomal dominant
Previous symbols
SFD
MANE Select transcript
ENST00000266085.7NM_000362.5
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

  • Hereditary Macular Dystrophies

    • Sorsby Fundus DystrophyAutosomal dominant

      A dominant macular dystrophy caused by changes in TIMP3, usually starting in mid-adulthood.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      There is a high risk of abnormal blood vessel growth under the retina, which responds to anti-VEGF injections, so monitoring and prompt treatment matter.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How TIMP3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where TIMP3 sits. TIMP3 and 6 genes near it on chromosome 22, from 32,332,373 to 33,332,372.Chromosome 2222q12.3p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3332.4 Mb32.6 Mb32.8 Mb33 Mb33.2 MbRFPL3: 32,354,885–32,361,161, forward strandRFPL3RTCB: 32,387,575–32,412,265, reverse strandRTCBBPIFC: 32,413,845–32,464,484, reverse strandBPIFCFBXO7: 32,474,676–32,499,787, forward strandFBXO7SYN3: 32,507,820–33,058,388, reverse strandSYN3TIMP3: 32,801,705–32,863,041, forward strandTIMP3LARGE1: 33,162,226–33,922,885, reverse strandLARGE1Diagram of TIMP3: 5 exons on the forward strand of chromosome 22Exon 4: 1 known disease-causing siteExon 5: 7 known disease-causing sitesExon 1: 32,801,705–32,802,122, 418 basesExon 2: 32,849,452–32,849,534, 83 basesExon 3: 32,857,249–32,857,360, 112 basesExon 4: 32,858,017–32,858,138, 122 basesExon 5: 32,859,180–32,863,041, 3,862 bases12455′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 4.6 kb of the gene's 61.3 kb; 636 of those bases code for the protein.

How a genome test reads TIMP3

8

positions in TIMP3 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 61.3 kb of TIMP3, introns included, not only the 4.6 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.). TIMP3 gene: TIMP metallopeptidase inhibitor 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/timp3

Vancouver

Dante Labs. TIMP3 gene: TIMP metallopeptidase inhibitor 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/timp3

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