Gene
THSD4
thrombospondin type 1 domain containing 4
- HGNC 25835↗(opens in a new tab)
- Ensembl gene ENSG00000187720↗(opens in a new tab)
- NCBI Gene 79875↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q23
- Coordinates
- Chromosome 15: 71,115,471–71,783,383 (GRCh38)
- Exons
- 18 exons across 667.9 kb
- Protein
- 1,018 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- FVSY9334, PRO34005, FLJ13710, ADAMTSL6
- MANE Select transcript
- ENST00000261862.8NM_024817.3
- 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.
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Get my Genome TestCurated report relevant to this gene
Aortic Aneurysm
- Familial Thoracic Aortic Aneurysm and DissectionAutosomal dominant
Inherited widening and tearing of the thoracic aorta, caused by changes in genes such as ACTA2, MYH11, MYLK, LOX, PRKG1, MFAP5 and THSD4.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing about it supports regular aortic imaging, blood pressure control and timely preventive surgery, and screening of relatives.
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 THSD4 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 9.4 kb of the gene's 667.9 kb; 3,057 of those bases code for the protein.
How a genome test reads THSD4
4
positions in THSD4 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 667.9 kb of THSD4, introns included, not only the 9.4 kb of exons.
Genes linked to the same conditions
- ACTA2actin alpha 2, smooth muscleShares 1 condition
- FBN1fibrillin 1Shares 1 condition
- FOXE3forkhead box E3Shares 1 condition
- LOXlysyl oxidaseShares 1 condition
- MFAP5microfibril associated protein 5Shares 1 condition
- MYH11myosin heavy chain 11Shares 1 condition
- MYLKmyosin light chain kinaseShares 1 condition
- PRKG1protein kinase cGMP-dependent 1Shares 1 condition
- TGFB2transforming growth factor beta 2Shares 1 condition
- TGFBR1transforming growth factor beta receptor 1Shares 1 condition
- TGFBR2transforming growth factor beta receptor 2Shares 1 condition
Traits linked to THSD4
The Human Phenotype Ontology lists these as features of the rare conditions THSD4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Cutis marmorata
- Mucoid extracellular matrix accumulation
- Abnormal left ventricular function
- Aortic regurgitation
- Ascending aortic dissection
- Bulge in wall of root of large artery that carries blood away from heart
- Descending aortic dissection
- Enlarged heart
Show 15 more traits
- High blood pressure
- Plaque build-up in arteries supplying blood to heart
- Abdominal aortic aneurysm
- Aortic valve has two leaflets rather than three
- Brain aneurysm
- Bulging of wall of large artery located above heart
- Carotid artery dilatation
- Depleted blood volume
- Descending thoracic aorta aneurysm
- Ischemic stroke
- Mini stroke
- Patent ductus arteriosus
- Peripheral arterial stenosis
- Stroke
- Tear in inner wall of large artery that carries blood away from heart
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.
- 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
Dante Labs. (n.d.). THSD4 gene: thrombospondin type 1 domain containing 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/thsd4
Dante Labs. THSD4 gene: thrombospondin type 1 domain containing 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/thsd4
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