Gene Gene information from NCBI Gene database.
Entrez ID 4327
Gene name Matrix metallopeptidase 19
Gene symbol MMP19
Synonyms (NCBI Gene)
CODAMMP18RASI-1
Chromosome 12
Chromosome location 12q13.2
Summary This gene encodes a member of a family of proteins that are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as a
miRNA miRNA information provided by mirtarbase database.
186
miRTarBase ID miRNA Experiments Reference
MIRT023166 hsa-miR-124-3p Microarray 18668037
MIRT735022 hsa-miR-4270 Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry 33024586
MIRT1153348 hsa-miR-1256 CLIP-seq
MIRT1153349 hsa-miR-1278 CLIP-seq
MIRT1153350 hsa-miR-200b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001541 Process Ovarian follicle development IEA
GO:0001542 Process Ovulation from ovarian follicle IEA
GO:0001554 Process Luteolysis IEA
GO:0004222 Function Metalloendopeptidase activity EXP 10809722
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601807 7165 ENSG00000123342
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99542
Protein name Matrix metalloproteinase-19 (MMP-19) (EC 3.4.24.-) (Matrix metalloproteinase RASI) (Matrix metalloproteinase-18) (MMP-18)
Protein function Endopeptidase that degrades various components of the extracellular matrix, such as aggrecan and cartilage oligomeric matrix protein (comp), during development, haemostasis and pathological conditions (arthritic disease). May also play a role in
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01471 PG_binding_1 29 80 Putative peptidoglycan binding domain Domain
PF00413 Peptidase_M10 103 256 Matrixin Domain
PF00045 Hemopexin 337 377 Hemopexin Repeat
PF00045 Hemopexin 380 427 Hemopexin Repeat
PF00045 Hemopexin 429 472 Hemopexin Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in mammary gland, placenta, lung, pancreas, ovary, small intestine, spleen, thymus, prostate, testis colon, heart and blood vessel walls. Not detected in brain and peripheral blood leukocytes. Also expressed in the synovial f
Sequence
Sequence length 508
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Degradation of the extracellular matrix
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CAVITARY OPTIC DISC ANOMALIES CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cavitary optic disk anomaly Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign ClinVar
ClinVar, GenCC
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 15239678
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 12516088
★☆☆☆☆
Found in Text Mining only
Aneurysm Aneurysm Pubtator 21955474 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 12735638 Stimulate
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy BEFREE 9232430
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 19843707
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 20142769
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19531263 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23568046 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22576687 Stimulate
★☆☆☆☆
Found in Text Mining only