Entrez Gene ID | 80070 |
---|---|
Official Gene Symbol | ADAMTS20 (GeneCards) |
Full name | ADAM metallopeptidase with thrombospondin type 1 motif 20 |
Location | 12q12 |
Other ids | Vega : OTTHUMG00000169353 MIM : 611681 HGNC : HGNC:17178 Ensembl : ENSG00000173157 |
Other names | GON-1, ADAM-TS20, ADAMTS-20 |
Summary | The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011] |
Found 5 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
16624 | 80070 | ADAMTS20 | 12 | 43952230 | 43952230 | Asymptomatic | HiSeq X Ten |
17043 | 80070 | ADAMTS20 | 12 | 44042011 | 44042011 | Xeroderma Pigmentosum | HiSeq X Ten |
17044 | 80070 | ADAMTS20 | 12 | 44046039 | 44046039 | Xeroderma Pigmentosum | HiSeq X Ten |
23636 | 80070 | ADAMTS20 | 12 | 43867835 | 43867835 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
29857 | 80070 | ADAMTS20 | 12 | 43770053 | 43770053 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |