thrombospondin type 1 domain containing 4

Summary
Gene Symbol
  • THSD4
Aliases
  • ADAMTSL6
  • FLJ13710
  • FVSY9334
  • PRO34005
Organism
Homo sapiens (human)
NCBI Gene
79875
HGNC
25835
PubChem
79875
Alliance of Genome Resources
JoGo
THSD4
TogoVar
THSD4
Annotation
Keyword
  • Alternative splicing
  • Aortic aneurysm
  • Extracellular matrix
  • Hydrolase
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
Q6ZMP0
  • A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6
Gene Ontology (GO)
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:14004 thoracic aortic aneurysm
The Human Phenotype Ontology
Displaying entries 1 - 10 of 52 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000023 Inguinal hernia
HP:0000098 Tall stature
HP:0000218 High palate
HP:0000278 Retrognathia
HP:0000316 Hypertelorism
HP:0000525 Abnormality iris morphology
HP:0000766 Abnormal sternum morphology
HP:0000767 Pectus excavatum
HP:0000822 Hypertension
Displaying all 2 entries
Disease ID Disease Name
OMIM:619825
  • aortic aneurysm, familial thoracic 12
ORPHA:91387
  • Loeys-Dietz syndrome 1
  • Loeys-Dietz syndrome 2
  • familial thoracic aortic aneurysm and aortic dissection
  • thoracic aortic aneurysm

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 6, 2026