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Aliases for MMP19 Gene

Aliases for MMP19 Gene

  • Matrix Metallopeptidase 19 2 3 5
  • Matrix Metalloproteinase RASI 3 4
  • Matrix Metalloproteinase-18 3 4
  • MMP18 3 4
  • Matrix Metalloproteinase-Beta19 3
  • Matrix Metalloproteinase 19 2
  • Matrix Metalloproteinase-19 3
  • EC 3.4.24.- 4
  • RASI-1 3
  • MMP-18 4
  • MMP-19 4
  • 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 Anthracosis. Among its related pathways are Degradation of the extracellular matrix and Integrin Pathway. GO annotations related to this gene include calcium ion binding and metallopeptidase activity. An important paralog of this gene is MMP28.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for MMP19 Gene

Genomics for MMP19 Gene

Regulatory Elements for MMP19 Gene

Enhancers for MMP19 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G055845 1.6 FANTOM5 Ensembl ENCODE 42.4 -5.3 -5333 5.8 PKNOX1 TCF12 ZNF766 ELK1 FOS JUNB ZNF592 CREB3 SMARCA4 MYNN MMP19 TMEM198B IL23A ZC3H10 GC12M055852
GH12G055641 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +200.4 200383 1.6 BCOR CTCF SCRT2 ZMYM3 SPI1 MMP19 ZC3H10 BLOC1S1 OR10AE3P OR10P1
GH12G055955 1.4 Ensembl ENCODE dbSUPER 9.5 -114.0 -114039 4.0 PKNOX1 CBX3 NFIB SIN3A RAD21 ZEB1 RFX5 GLIS2 RCOR1 FOS DGKA RPS26 ORMDL2 SARNP MMP19 RDH5 MYL6B CDK2 PYM1
GH12G056335 1.8 FANTOM5 Ensembl ENCODE dbSUPER 7.3 -495.0 -495006 4.6 HDGF PKNOX1 ATF1 CREB3L1 ARNT ZNF121 ZNF766 ELK1 JUNB GTF2B ENSG00000257303 IL23A NEMP1 BAZ2A STAT2 RN7SL809P MMP19 PAN2 ZC3H10 GC12P056341
GH12G055742 1.3 ENCODE dbSUPER 9.8 +98.6 98557 4.6 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YBX1 ZNF2 ZBTB7B ZNF143 CDK2 BAZ2A RN7SL809P TMEM198B RNU6-343P ZC3H10 SUOX ITGA7 BLOC1S1 ORMDL2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MMP19 on UCSC Golden Path with GeneCards custom track

Promoters for MMP19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052450 283 601 HDAC1 CBX3 RB1 TBL1XR1 RAD21 FOS CREM SMARCC1 CEBPB ELF1

Genomic Location for MMP19 Gene

Chromosome:
12
Start:
55,835,430 bp from pter
End:
55,842,983 bp from pter
Size:
7,554 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=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Autoantigen anti-MMP19 are frequent in RA patients.
    SequenceCaution:
    • Sequence=AAC99995.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    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

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

GENATLAS Biochemistry:
matrix metalloproteinase 19,regulator in matrix remodeling,mainly expressed in placenta,lung,pancreas,ovary,spleen and intestine
UniProtKB/Swiss-Prot CatalyticActivity:
Cleaves aggrecan at the 360-Ser- -Phe-361 site.
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by TIMP-2, TIMP-3 and TIMP-4, while TIMP-1 is less efficient.
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.

Enzyme Numbers (IUBMB) for MMP19 Gene

Gene Ontology (GO) - Molecular Function for MMP19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity TAS --
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005509 calcium ion binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase 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

Clone Products

Flow Cytometry Products

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
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MMP19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix NAS 10809722
GO:0005615 extracellular space IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with MMP19: view

Pathways & Interactions for MMP19 Gene

genes like me logo Genes that share pathways with MMP19: view

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Marimastat Approved, Investigational Pharma Target, inhibitor MMPs inhibitor,board spectrum 4
Batimastat Experimental Pharma Potent, broad spectrum MMP inhibitor 0
Triptolide Pharma IL-2/MMP-3/MMP7/MMP19 inhibitor 7
calcium Nutra 0
GI 254023X Pharma Selective inhibitor of ADAM10 metalloprotease, Selective ADAM10 metalloprotease inhibitor 0

(3) Additional Compounds for MMP19 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
TMI 1
287403-39-8

(5) Tocris Compounds for MMP19 Gene

Compound Action Cas Number
Batimastat Potent, broad spectrum MMP inhibitor 130370-60-4
GI 254023X Selective ADAM10 metalloprotease inhibitor 260264-93-5
GM 6001 Broad spectrum MMP inhibitor 142880-36-2
TMI 1 Adam 17 (TACE) and MMP inhibitor; orally bioavailable 287403-39-8
WAY 170523 Potent and selective inhibitor of MMP-13 307002-73-9

(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

Transcripts for MMP19 Gene

Unigene Clusters for MMP19 Gene

Matrix metallopeptidase 19:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
MMP19

Expression for MMP19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for MMP19 Gene



NURSA nuclear receptor signaling pathways regulating expression of MMP19 Gene:

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(4.2)
  • Lung(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with MMP19: view

Primer Products

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 34 35
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia MMP19 34 35
  • 87.29 (n)
cow
(Bos Taurus)
Mammalia MMP19 34 35
  • 87.01 (n)
rat
(Rattus norvegicus)
Mammalia Mmp19 34
  • 83.47 (n)
mouse
(Mus musculus)
Mammalia Mmp19 34 16 35
  • 82.31 (n)
oppossum
(Monodelphis domestica)
Mammalia MMP19 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MMP19 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMP19 35
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MMP19 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmp19 34
  • 62.4 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100536874 34
  • 58.13 (n)
MMP19 35
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mmp1 36
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea T21D11.1 35
  • 28 (a)
OneToMany
Species where no ortholog for MMP19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for MMP19 Gene

Paralogs for MMP19 Gene

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

genes like me logo Genes that share paralogs with MMP19: view

Variants for MMP19 Gene

Sequence variations from dbSNP and Humsavar for MMP19 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000296454 -- 55,836,413(+) GAGCT(C/G)TTCAG intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1000966601 -- 55,842,949(+) CTCCA(C/G)CCTCT nc-transcript-variant, utr-variant-5-prime
rs1001068529 -- 55,836,749(+) GGCTG(C/T)CTAAG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1001145337 -- 55,843,604(+) ACCCT(A/G)AGGGG upstream-variant-2KB
rs1001637184 -- 55,842,776(+) GACCC(A/G)GCCTG nc-transcript-variant, reference, missense, utr-variant-5-prime

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)

Relevant External Links for MMP19 Gene

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

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

Disorders for MMP19 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cavitary optic disc anomalies
  • familial cavitary optic disc anomaly
anthracosis
  • black 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 disc 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.

Relevant External Links for MMP19

Genetic Association Database (GAD)
MMP19
Human Genome Epidemiology (HuGE) Navigator
MMP19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MMP19
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. (Immunol. Lett. 1997) 2 3 4 22 64
  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 J.O. … Knaeuper V. (J. Biol. Chem. 2000) 3 4 22 64
  3. Matrix metalloproteinases 19 and 20 cleave aggrecan and cartilage oligomeric matrix protein (COMP). (PMID: 10922468) Stracke J.O. … Knaeuper V. (FEBS Lett. 2000) 3 4 22 64
  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 22 64
  5. Identification and characterization of a novel human matrix metalloproteinase with unique structural characteristics, chromosomal location and tissue distribution. (PMID: 9020145) Pendas A.M. … Lopez-Otin C. (J. Biol. Chem. 1997) 3 4 22 64

Products for MMP19 Gene

Sources for MMP19 Gene

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