Gene: MMP2

Alternate names for this Gene: CLG4|CLG4A|MMP-2|MMP-II|MONA|TBE-1

Gene Summary: This gene is a member of the matrix metalloproteinase (MMP) gene family, that are zinc-dependent enzymes capable of cleaving components of the extracellular matrix and molecules involved in signal transduction. The protein encoded by this gene is a gelatinase A, type IV collagenase, that contains three fibronectin type II repeats in its catalytic site that allow binding of denatured type IV and V collagen and elastin. Unlike most MMP family members, activation of this protein can occur on the cell membrane. This enzyme can be activated extracellularly by proteases, or, intracellulary by its S-glutathiolation with no requirement for proteolytical removal of the pro-domain. This protein is thought to be involved in multiple pathways including roles in the nervous system, endometrial menstrual breakdown, regulation of vascularization, and metastasis. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 16

Location in Chromosome : 16q12.2

Description of this Gene: matrix metallopeptidase 2

Type of Gene: protein-coding

rs142319636 in MMP2 gene and Adenocarcinoma of large intestine PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs142319636 in MMP2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs142319636 in MMP2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs142319636 in MMP2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs142319636 in MMP2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs142319636 in MMP2 gene and Colorectal Carcinoma PMID 27207650 2016 We discovered 17 variants across 4 independent regions that merit further investigation due to suggestive CRC associations (P < 1×10(-6)) at 1p34.3 (rs7528276; Odds Ratio (OR) = 1.86 [95% confidence interval (CI): 1.47-2.36); P = 2.5×10(-7)], 2q23.3 (rs1367374; OR = 1.37 (95% CI: 1.21-1.55); P = 4.0×10(-7)), 14q24.2 (rs143046984; OR = 1.65 (95% CI: 1.36-2.01); P = 4.1×10(-7)) and 16q12.2 [rs142319636; OR = 1.69 (95% CI: 1.37-2.08); P=7.8×10(-7)].

rs142319636 in MMP2 gene and Colorectal Neoplasms PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs142319636 in MMP2 gene and Malignant neoplasm of large intestine PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs142319636 in MMP2 gene and Malignant tumor of colon PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

rs121912953 in MMP2 gene and TORG-WINCHESTER SYNDROME PMID 16542393 2006 A novel homozygous MMP2 mutation in a family with Winchester syndrome.

PMID 11431697 2001 Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.

PMID 15691365 2005 Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.