Entity Details

Primary name ADAMTS3
Entity type gene
Source Source Link

Details

PrimaryID9508
RefseqGeneNG_046955
SymbolADAMTS3
NameADAM metallopeptidase with thrombospondin type 1 motif 3
Chromosome4
Location4q13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-04-16
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsATS3_HUMAN

GO terms

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GOName
GO:0001701 in utero embryonic development
GO:0004175 endopeptidase activity
GO:0004222 metalloendopeptidase activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0008201 heparin binding
GO:0008270 zinc ion binding
GO:0010573 vascular endothelial growth factor production
GO:0016485 protein processing
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030574 collagen catabolic process
GO:0031012 extracellular matrix
GO:0032964 collagen biosynthetic process
GO:0070062 extracellular exosome
GO:0097435 supramolecular fiber organization
GO:1900748 positive regulation of vascular endothelial growth factor signaling pathway

Diseases

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Disease IDSourceNameDescription
618154 OMIMHennekam lymphangiectasia-lymphedema syndrome 3 (HKLLS3)A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest mental retardation. HKLLS3 is characterized by widespread congenital edema, facial dysmorphism and protein-losing enteropathy of variable severity. HKLLS3 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
ADAMTS3UBQLN2BioGRID, IntAct32296183 details
ADAMTS3HSP90B1BioGRID, IntAct30021884 details
ADAMTS3VIRMABioGRID29507755 details