Basic Information

MMP2

Full name: matrix metallopeptidase 2

Gene type: protein coding

HGNC ID: HGNC:7166

Gene location: 16q12.2

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/4313

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:7166

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_004530.6

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P08253

AlphaFold: https://alphafold.ebi.ac.uk/entry/P08253

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/120360

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=4313

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa01522+4313

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
MMP2		2KB Upstream Variant	rs243865	C>T	chr16:55477894 (GRCh38.p13)
MMP2		2KB Upstream Variant	rs243866	G>A	chr16:55477625 (GRCh38.p13)
MMP2		2KB Upstream Variant	rs2285053	C>T	chr16:55478465 (GRCh38.p13)
MMP2	AMD	Synonymous Variant	rs2287074	G>A / G>C	chr16:55493201 (GRCh38.p13)