MMP2

matrix metallopeptidase 2

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. [provided by RefSeq, Oct 2014]

Known Variants323 total

rsidPosition (GRCh37)AllelesClassClinVar
rs24386616:55,511,537G/Aupstream gene variant—
rs24386516:55,511,806C/Tupstream gene variantassociation
rs1785982116:55,512,053G/T——
rs24386416:55,512,322T/Gupstream gene variant—
rs228505316:55,512,377C/Tupstream gene variant—
rs1785982916:55,512,944T/G—benign
rs88605212416:55,513,191C/G—uncertain significance
rs118695859816:55,513,245T/A—uncertain significance
rs55267255416:55,513,278G/A—uncertain significance
rs228707316:55,513,331G/C—benign
rs76519508916:55,513,385C/A—uncertain significance
rs77784815316:55,513,390C/A—uncertain significance
rs128738993516:55,513,407G/A—uncertain significance
rs74626821216:55,513,411G/A—uncertain significance
rs78158120416:55,513,414G/A—uncertain significance
rs134424550716:55,513,421C/T—likely benign
rs119847191916:55,513,423C/T—uncertain significance
rs78076377216:55,513,428C/T—uncertain significance
rs118315712816:55,513,429C/G—uncertain significance
rs254349637616:55,513,434A/C—likely benign
rs4150334716:55,513,442C/T—likely benign
rs125943106616:55,513,457C/T—likely benign
rs57539896516:55,513,484G/A—likely benign
rs14622069016:55,513,487G/T—conflicting classifications of pathogenicity
rs76405533116:55,513,496C/T—conflicting classifications of pathogenicity
rs119230167916:55,513,504C/T—uncertain significance
rs139261050516:55,513,506G/A—uncertain significance
rs101696082216:55,513,515G/T—uncertain significance
rs135236184616:55,513,518C/T—uncertain significance
rs75065398716:55,513,556C/T—uncertain significance
rs24386216:55,513,623C/T—benign
rs83754616:55,515,200C/T—benign
rs83754716:55,515,415A/C—benign
rs103087016:55,515,593G/A—benign
rs103086916:55,515,621T/C—benign
rs70826916:55,515,695A/T—benign
rs805595916:55,516,473G/A—benign
rs85740316:55,516,708A/T—benign
rs103086816:55,516,767G/Aintron variantbenign
rs77421398316:55,516,801G/C—likely benign
rs37184290816:55,516,810A/G—benign
rs76674577816:55,516,814C/A—likely benign
rs254350331016:55,516,837T/C—uncertain significance
rs214234425216:55,516,848C/T—uncertain significance
rs254350339416:55,516,855A/G—uncertain significance
rs77820685516:55,516,872G/T—uncertain significance
rs77975071416:55,516,891A/T—uncertain significance
rs196214397316:55,516,900A/G—uncertain significance
rs196214453316:55,516,917C/T—uncertain significance
rs254350367516:55,516,921A/T—uncertain significance
rs79472727516:55,516,932——pathogenic
rs76654968816:55,516,949C/T—likely benign
rs75214677716:55,516,950G/A—uncertain significance
rs136945475916:55,516,968C/T—pathogenic
rs12191295316:55,516,969G/Amissense variantpathogenic
rs20167951016:55,516,973C/A—likely pathogenic
rs74801447216:55,516,999A/G—uncertain significance
rs11271094116:55,517,011G/T—uncertain significance
rs127184561616:55,517,012C/G—likely benign
rs75949001316:55,517,028A/G—uncertain significance
rs159680786616:55,517,044A/G—uncertain significance
rs37324420316:55,517,053G/A—uncertain significance
rs37533222016:55,517,056G/T—likely benign
rs54506912816:55,517,057C/T—conflicting classifications of pathogenicity
rs254350434616:55,517,058A/G—likely benign
rs128554168616:55,517,062C/A—likely benign
rs147701716:55,517,162A/G—benign
rs86509416:55,517,232G/A—benign
rs120189564016:55,517,916T/C—likely benign
rs196217421016:55,517,919C/T—likely benign
rs254350632316:55,517,974G/T—uncertain significance
rs135196794116:55,517,983C/T—uncertain significance
rs74661309016:55,517,984G/A—uncertain significance
rs196217621416:55,517,989T/C—uncertain significance
rs14433456816:55,518,004G/A—uncertain significance
rs159680888016:55,518,005A/G—uncertain significance
rs36848675816:55,518,020G/A—uncertain significance
rs14493282616:55,518,021G/A—uncertain significance
rs76108619916:55,518,035A/G—uncertain significance
rs14794705216:55,518,043G/A—likely benign
rs14156591116:55,518,046G/A—uncertain significance
rs75125621816:55,518,048A/G—likely benign
rs196218037516:55,518,060C/A—likely benign
rs76723209416:55,518,069C/T—likely benign
rs14533755116:55,518,071G/A—uncertain significance
rs196218121816:55,518,076G/A—likely pathogenic
rs37485205616:55,518,093G/C—likely benign
rs1107610116:55,518,258T/C—benign
rs1164664316:55,518,877A/G—benign
rs15107192616:55,519,218C/T—likely benign
rs78620549716:55,519,219G/Amissense variantpathogenic
rs105751871216:55,519,220A/T—likely benign
rs75376187216:55,519,236C/T—likely benign
rs19981453216:55,519,266C/T—likely benign
rs88605212516:55,519,269C/T—conflicting classifications of pathogenicity
rs14098468716:55,519,272A/G—likely benign
rs123158461616:55,519,279G/A—uncertain significance
rs254350954416:55,519,284T/C—likely benign
rs254350955516:55,519,285G/C—uncertain significance
rs77803817916:55,519,308C/T—likely benign

Showing 100 of 323 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.