| AgACC | Ag003805 |
| Date | 19-08-2008 |
| Last updated | 14-12-2016 |
| Antigen Name | MMP2 |
| Common Name | Matrix metalloproteinase-2 |
| Full Name | Matrix metalloproteinase 2 |
| Synonym | 72 kDa gelatinase; 72 kDa type IV collagenase precursor; 72kD type IV collagenase; Gelatinase A; Matrix metalloproteinase-2; TBE- 1; collagenase type IV-A; matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase); matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase); matrix metalloproteinase-II; neutrophil gelatinase; CLG4; CLG4A; EC 3.4.24.24; MMP-2; MMP2; MMP-II; MONA; TBE-1
another display format
- 72 kDa gelatinase
- 72 kDa type IV collagenase precursor
- 72kD type IV collagenase
- Gelatinase A
- Matrix metalloproteinase-2
- TBE- 1
- collagenase type IV-A
- matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
- matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
- matrix metalloproteinase-II
- neutrophil gelatinase
- CLG4
- CLG4A
- EC 3.4.24.24
- MMP-2
- MMP2
- MMP-II
- MONA
- TBE-1
|
| UniProt ID | P08253
|
| NCBI Gene ID | 4313 |
| GeneCard ID | GC16P055424 |
| SwissProt VARIANT ID | VAR_032425 |
| Comment | Winchester syndrome - Defects in MMP2 are the cause of Winchester syndrome. Winchester syndrome is an autosomal recessive osteolysis syndrome. Winchester syndrome is severe with generalized osteolysis and osteopenia. Subcutaneous nodules are usually absent. Winchester syndrome has been associated with a number of additional features including coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy. However, these features are not always present and have occasionally been observed in other osteolysis syndromes. The clinical and molecular findings suggest that Winchester syndrome and MONA are allelic disorders that form a continuous clinical spectrum |
| Annotation | This is a fragment sequence. |
| Mutation entries | Ag003802, Ag003803, Ag003804, Ag003805, Ag003806, Ag003807, Ag003808, Ag003809
View mutation map |
| RNA/protein expression profile | RNA and protein Expression profile |
| Predicted HLA binders | |
| Reference sequence | DRKWGFCPDQGYSLFLVAAHEFGHAMGLEHSQDPGALMAPI |
| Antigen sequence | DRKWGFCPDQGYSLFLVAAHKFGHAMGLEHSQDPGALMAPI |