| Entrez Gene ID | 81792 |
|---|---|
| Official Gene Symbol | ADAMTS12 (GeneCards) |
| Full name | ADAM metallopeptidase with thrombospondin type 1 motif 12 |
| Location | 5p13.3-p13.2 |
| Other ids | Vega : OTTHUMG00000162088 MIM : 606184 HGNC : HGNC:14605 Ensembl : ENSG00000151388 |
| Other names | PRO4389 |
| 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-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008] |
Found 8 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 7657 | 81792 | ADAMTS12 | 5 | 33605929 | 33605929 | Asymptomatic | HiSeq X Ten |
| 7786 | 81792 | ADAMTS12 | 5 | 33806409 | 33806409 | Asymptomatic | HiSeq X Ten |
| 8474 | 81792 | ADAMTS12 | 5 | 33822536 | 33822536 | Asymptomatic | HiSeq X Ten |
| 8540 | 81792 | ADAMTS12 | 5 | 33531742 | 33531742 | Asymptomatic | HiSeq X Ten |
| 25856 | 81792 | ADAMTS12 | 5 | 33631148 | 33631148 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 25857 | 81792 | ADAMTS12 | 5 | 33788346 | 33788346 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 25911 | 81792 | ADAMTS12 | 5 | 33919267 | 33919267 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29518 | 81792 | ADAMTS12 | 5 | 33576539 | 33576539 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning MiSeq |