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 arthritis and metastasis. The encoded protein is secreted as an inactive proprotein, which is activated upon cleavage by extra... See more...

Aliases for MMP19 Gene

Aliases for MMP19 Gene

  • Matrix Metallopeptidase 19 2 3 5
  • Matrix Metalloproteinase RASI 3 4
  • Matrix Metalloproteinase-19 3 4
  • Matrix Metalloproteinase-18 3 4
  • RASI-1 2 3
  • MMP18 3 4
  • Matrix Metalloproteinase-Beta19 3
  • Matrix Metalloproteinase 19 2
  • EC 3.4.24.- 4
  • MMP-19 4
  • MMP-18 4
  • MMP19 5
  • CODA 3
  • RASI 4

External Ids for MMP19 Gene

Previous HGNC Symbols for MMP19 Gene

  • MMP18

Previous GeneCards Identifiers for MMP19 Gene

  • GC12M056347
  • GC12M056451
  • GC12M055945
  • GC12M054515
  • GC12M056230
  • GC12M053267

Summaries for MMP19 Gene

Entrez Gene Summary for MMP19 Gene

  • 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 arthritis and metastasis. The encoded protein is secreted as an inactive proprotein, which is activated upon cleavage by extracellular proteases. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]

GeneCards Summary for MMP19 Gene

MMP19 (Matrix Metallopeptidase 19) is a Protein Coding gene. Diseases associated with MMP19 include Cavitary Optic Disc Anomalies and Multiple Sclerosis. Among its related pathways are Degradation of the extracellular matrix and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and metallopeptidase activity. An important paralog of this gene is MMP15.

UniProtKB/Swiss-Prot Summary for MMP19 Gene

  • 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 neovascularization or angiogenesis. Hydrolyzes collagen type IV, laminin, nidogen, nascin-C isoform, fibronectin, and type I gelatin.

Tocris Summary for MMP19 Gene

  • Matrix metalloproteases (matrix metalloproteinase, MMPs), also called matrixins, are zinc-dependent endopeptidases and the major proteases in ECM degradation. MMPs are capable of degrading several extracellular molecules and a number of bioactive molecules.

Gene Wiki entry for MMP19 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MMP19 Gene

Genomics for MMP19 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MMP19 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MMP19 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MMP19

Top Transcription factor binding sites by QIAGEN in the MMP19 gene promoter:
  • AML1a
  • AP-1
  • c-Fos
  • c-Jun
  • FosB
  • JunD
  • Nkx6-1
  • NRF-2
  • TGIF
  • YY1

Genomic Locations for MMP19 Gene

Genomic Locations for MMP19 Gene
chr12:55,835,433-55,842,971
(GRCh38/hg38)
Size:
7,539 bases
Orientation:
Minus strand
chr12:56,229,214-56,236,750
(GRCh37/hg19)
Size:
7,537 bases
Orientation:
Minus strand

Genomic View for MMP19 Gene

Genes around MMP19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMP19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMP19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMP19 Gene

Proteins for MMP19 Gene

  • Protein details for MMP19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99542-MMP19_HUMAN
    Recommended name:
    Matrix metalloproteinase-19
    Protein Accession:
    Q99542
    Secondary Accessions:
    • B4E030
    • O15278
    • O95606
    • Q99580

    Protein attributes for MMP19 Gene

    Size:
    508 amino acids
    Molecular mass:
    57357 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC99995.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
    Miscellaneous:
    • Autoantigen anti-MMP19 are frequent in RA patients.
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for MMP19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MMP19 Gene

Post-translational modifications for MMP19 Gene

No data available for DME Specific Peptides for MMP19 Gene

Domains & Families for MMP19 Gene

Gene Families for MMP19 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for MMP19 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60740, moderately similar to Matrix metalloproteinase-19 (EC 3.4.24.-) (B4DNP3_HUMAN)
  • cDNA FLJ60201, highly similar to Matrix metalloproteinase-19 (EC 3.4.24.-) (B4E030_HUMAN)
  • Matrix metalloproteinase-18 (MMP19_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99542

UniProtKB/Swiss-Prot:

MMP19_HUMAN :
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
  • Belongs to the peptidase M10A family.
Domain:
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
Family:
  • Belongs to the peptidase M10A family.
genes like me logo Genes that share domains with MMP19: view

Function for MMP19 Gene

Molecular function for MMP19 Gene

UniProtKB/Swiss-Prot 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 neovascularization or angiogenesis. Hydrolyzes collagen type IV, laminin, nidogen, nascin-C isoform, fibronectin, and type I gelatin.
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by TIMP-2, TIMP-3 and TIMP-4, while TIMP-1 is less efficient.
GENATLAS Biochemistry:
matrix metalloproteinase 19,regulator in matrix remodeling,mainly expressed in placenta,lung,pancreas,ovary,spleen and intestine

Enzyme Numbers (IUBMB) for MMP19 Gene

Phenotypes From GWAS Catalog for MMP19 Gene

Gene Ontology (GO) - Molecular Function for MMP19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity EXP,IBA 21873635
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MMP19: view
genes like me logo Genes that share phenotypes with MMP19: view

Human Phenotype Ontology for MMP19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MMP19 Gene

MGI Knock Outs for MMP19:

Animal Model Products

  • Taconic Biosciences Mouse Models for MMP19

CRISPR Products

miRNA for MMP19 Gene

miRTarBase miRNAs that target MMP19

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMP19

No data available for Transcription Factor Targets and HOMER Transcription for MMP19 Gene

Localization for MMP19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMP19 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MMP19 gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MMP19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0031012 extracellular matrix NAS 10809722
genes like me logo Genes that share ontologies with MMP19: view

Pathways & Interactions for MMP19 Gene

PathCards logo

SuperPathways for MMP19 Gene

SuperPathway Contained pathways
1 Degradation of the extracellular matrix
2 Matrix Metalloproteinases
.69
3 Integrin Pathway
.56
.38
4 GPCR Pathway
.59
genes like me logo Genes that share pathways with MMP19: view

Pathways by source for MMP19 Gene

4 Qiagen pathways for MMP19 Gene
  • Inhibition of Matrix Metalloproteinases
  • Pancreatic Adenocarcinoma
  • Transendothelial Migration of Leukocytes
  • UPA-UPAR Pathway

Gene Ontology (GO) - Biological Process for MMP19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001541 ovarian follicle development IEA --
GO:0001542 ovulation from ovarian follicle IEA --
GO:0001554 luteolysis IEA --
GO:0006508 proteolysis NAS 9020145
genes like me logo Genes that share ontologies with MMP19: view

No data available for SIGNOR curated interactions for MMP19 Gene

Drugs & Compounds for MMP19 Gene

(6) Drugs for MMP19 Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Marimastat Investigational Pharma Target, inhibitor MMPs inhibitor,board spectrum 4
Triptolide Investigational Pharma IL-2/MMP-3/MMP7/MMP19 inhibitor 8
Calcium Nutra 6556
ARP 100 Pharma Selective MMP-2 inhibitor, Selective inhibitor of MMP-2 0
ARP 101 Pharma MMP inhibitor,potent and selective, Inhibitor of MMP-2 0

(2) Additional Compounds for MMP19 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) Tocris Compounds for MMP19 Gene

Compound Action Cas Number
ARP 100 Selective inhibitor of MMP-2 704888-90-4
ARP 101 Inhibitor of MMP-2 849773-63-3
PD 166793 Broad spectrum MMP inhibitor 199850-67-4

(1) ApexBio Compounds for MMP19 Gene

Compound Action Cas Number
Triptolide IL-2/MMP-3/MMP7/MMP19 inhibitor 38748-32-2
genes like me logo Genes that share compounds with MMP19: view

Drug Products

Transcripts for MMP19 Gene

mRNA/cDNA for MMP19 Gene

5 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMP19

Alternative Splicing Database (ASD) splice patterns (SP) for MMP19 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b
SP1: - - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: - - - - - - - - -
SP6: - - - -
SP7:
SP8: - - - - - - -
SP9:

Relevant External Links for MMP19 Gene

GeneLoc Exon Structure for
MMP19

Expression for MMP19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MMP19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MMP19 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x6.5).

Protein differential expression in normal tissues from HIPED for MMP19 Gene

This gene is overexpressed in Liver, secretome (23.8), Heart (19.5), Placenta (11.5), and Fetal heart (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MMP19 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MMP19

SOURCE GeneReport for Unigene cluster for MMP19 Gene:

Hs.591033

mRNA Expression by UniProt/SwissProt for MMP19 Gene:

Q99542-MMP19_HUMAN
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 fluid of normal and rheumatoid patients (PubMed:8920941).

Evidence on tissue expression from TISSUES for MMP19 Gene

  • Liver(4.5)
  • Intestine(2.5)
  • Heart(2.4)
  • Lung(2.3)
  • Kidney(2.2)
  • Nervous system(2.2)
  • Spleen(2.1)
  • Skin(2)
  • Blood(2)
genes like me logo Genes that share expression patterns with MMP19: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MMP19 Gene

Orthologs for MMP19 Gene

This gene was present in the common ancestor of animals.

Orthologs for MMP19 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MMP19 30 31
  • 99.34 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MMP19 30 31
  • 87.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MMP19 30 31
  • 87.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mmp19 30
  • 83.47 (n)
Mouse
(Mus musculus)
Mammalia Mmp19 30 17 31
  • 82.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MMP19 31
  • 66 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MMP19 31
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MMP19 31
  • 35 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MMP19 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mmp19 30
  • 62.4 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100536874 30
  • 58.13 (n)
MMP19 31
  • 53 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Mmp1 32
  • 37 (a)
Worm
(Caenorhabditis elegans)
Secernentea T21D11.1 31
  • 28 (a)
OneToMany
Species where no ortholog for MMP19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MMP19 Gene

ENSEMBL:
Gene Tree for MMP19 (if available)
TreeFam:
Gene Tree for MMP19 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MMP19: view image

Paralogs for MMP19 Gene

(9) SIMAP similar genes for MMP19 Gene using alignment to 5 proteins:

  • MMP19_HUMAN
  • A6ND33_HUMAN
  • B4DNP3_HUMAN
  • B4E030_HUMAN
  • F8W1C3_HUMAN
genes like me logo Genes that share paralogs with MMP19: view

Variants for MMP19 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MMP19 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
709455 Benign: not provided 55,840,880(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
721954 Likely Benign: not provided 55,837,113(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
773261 Likely Benign: not provided 55,837,196(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
773547 Benign: not provided 55,839,529(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
776717 Benign: not provided 55,837,101(-) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for MMP19 Gene

Structural Variations from Database of Genomic Variants (DGV) for MMP19 Gene

Variant ID Type Subtype PubMed ID
nsv832423 CNV gain 17160897

Variation tolerance for MMP19 Gene

Residual Variation Intolerance Score: 90.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.78; 47.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MMP19 Gene

Human Gene Mutation Database (HGMD)
MMP19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMP19

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMP19 Gene

Disorders for MMP19 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MMP19 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cavitary optic disc anomalies
  • coda
multiple sclerosis
  • multiple sclerosis, susceptibility to
lung cancer
  • adenocarcinoma of lung
- elite association - COSMIC cancer census association via MalaCards
Search MMP19 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MMP19_HUMAN
  • Cavitary optic disc anomalies (CODA) [MIM:611543]: An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss. {ECO:0000269 PubMed:25581579}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MMP19

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MMP19: view

No data available for Genatlas for MMP19 Gene

Publications for MMP19 Gene

  1. The matrix metalloproteinase RASI-1 is expressed in synovial blood vessels of a rheumatoid arthritis patient. (PMID: 9232430) Kolb C … Sedlacek R (Immunology letters 1997) 2 3 4 23
  2. Biochemical characterization of the catalytic domain of human matrix metalloproteinase 19. Evidence for a role as a potent basement membrane degrading enzyme. (PMID: 10809722) Stracke JO … Knäuper V (The Journal of biological chemistry 2000) 3 4 23
  3. Matrix metalloproteinases 19 and 20 cleave aggrecan and cartilage oligomeric matrix protein (COMP). (PMID: 10922468) Stracke JO … Knäuper V (FEBS letters 2000) 3 4 23
  4. Matrix metalloproteinase MMP-19 (RASI-1) is expressed on the surface of activated peripheral blood mononuclear cells and is detected as an autoantigen in rheumatoid arthritis. (PMID: 9562866) Sedlacek R … Krawinkel U (Immunobiology 1998) 3 4 23
  5. Identification and characterization of a novel human matrix metalloproteinase with unique structural characteristics, chromosomal location, and tissue distribution. (PMID: 9020145) Pendás AM … López-Otín C (The Journal of biological chemistry 1997) 3 4 23

Products for MMP19 Gene

Sources for MMP19 Gene