ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9
Gene ID: 56999, updated on 2-Nov-2024Gene type: protein coding
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- Go to complete Gene record for ADAMTS9
- Go to Variation Viewer for ADAMTS9 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. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analysis of age-at-onset in Alzheimer's disease. GeneReviews: Not available | |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Genome-wide association study of liver enzymes in korean children. GeneReviews: Not available | |
| Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. GeneReviews: Not available | |
| Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. GeneReviews: Not available | |
| Seven new loci associated with age-related macular degeneration. GeneReviews: Not available | |
| Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. GeneReviews: Not available | |
| White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder. GeneReviews: Not available |
Genomic context
- Location:
- 3p14.1
- Sequence:
- Chromosome: 3; NC_000003.12 (64515654..64688000, complement)
- Total number of exons:
- 41
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ADAMTS9 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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