Basic Information

MMP9

Full name: matrix metallopeptidase 9

Gene type: protein coding

HGNC ID: HGNC:7176

Gene location: 20q13.12

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/4318

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:7176

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_004994.3

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P14780

AlphaFold: https://alphafold.ebi.ac.uk/entry/P14780

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/120361

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=4318

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa01522+4318

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
MMP9	AMD	N/A	rs142450006	delTTCT / dupTTCT	chr20:45986353-45986365 (GRCh38.p13)
MMP9		2KB Upstream Variant	rs3918242	C>T	chr20:46007337 (GRCh38.p13)
MMP9	PCV	Missense Variant	rs17576	A>C / A>G / A>T	chr20:46011586 (GRCh38.p13)
MMP9	PCV	Intron Variant	rs3787268	G>A / G>T	chr20:46013092 (GRCh38.p13)
MMP9	PCV	Intron Variant	rs2274755	G>T	chr20:46011053 (GRCh38.p13)