ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2
Gene ID: 9509, updated on 3-Apr-2024Gene type: protein coding
Also known as: NPI; PNPI; PCINP; PCPNI; PCI-NP; PC I-NP; ADAM-TS2; ADAMTS-2; ADAMTS-3; EDSDERMS
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- Go to complete Gene record for ADAMTS2
- Go to Variation Viewer for ADAMTS2 variants
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke. GeneReviews: Not available | |
| Ehlers-Danlos syndrome, dermatosparaxis type | See labs |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder. GeneReviews: Not available |
Genomic context
- Location:
- 5q35.3
- Sequence:
- Chromosome: 5; NC_000005.10 (179110853..179345461, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ADAMTS2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ADAMTS2 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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