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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 Suppurative Periapical Periodontitis. Among its related pathways are Matrix Metalloproteinases and Degradation of the extracellular matrix. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for MMP19 Gene

Promoters and enhancers for MMP19 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I055841 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +0.3 297 1.9 HDAC1 TAF9B RB1 SIN3A FOS ATF7 CREM SMARCC1 PHF21A ZBTB2 MMP19 RDH5 DNAJC14
GH12I055742 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 37.5 +98.6 98557 4.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 YBX1 ZNF2 ZBTB7B GDF11 BAZ2A DNAJC14 MMP19 RN7SL809P CDK2 ZC3H10 TMEM198B ORMDL2 RNU6-343P
GH12I055715 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 27.3 +124.3 124311 7.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 RDH5 BLOC1S1 PIR46127 PIR49113 BAZ2A DNAJC14 RN7SL809P TMEM198B PAN2 CDK2
GH12I056298 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 27.2 -457.8 -457827 4.6 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 GLIS1 ENSG00000257303 CS BAZ2A ZC3H10 NEMP1 RN7SL809P CDK2 DNAJC14 RPL41 MMP19
GH12I055845 Enhancer 1.3 FANTOM5 Ensembl ENCODE 42.4 -5.3 -5332 5.8 HDAC1 PKNOX1 ZNF76 POLR2B EGR1 SCRT2 RCOR1 FOS ELF1 NR2F2 MMP19 TMEM198B IL23A ZC3H10 GC12M055851 GC12M055852 GC12M055853 GC12M055854
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MMP19 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MMP19 gene promoter:

Genomic Locations for MMP19 Gene

Genomic Locations for MMP19 Gene
chr12:55,835,430-55,842,983
(GRCh38/hg38)
Size:
7,554 bases
Orientation:
Minus strand
chr12:56,229,214-56,236,750
(GRCh37/hg19)

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

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

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 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

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 IEA,TAS --
GO:0004252 serine-type endopeptidase activity TAS --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding 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:

miRNA for MMP19 Gene

miRTarBase miRNAs that target MMP19

Clone 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

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: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,IEA 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, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Marimastat Approved, Investigational Pharma Target, inhibitor MMPs inhibitor,board spectrum 4
calcium Approved Nutra 0
Triptolide Investigational Pharma IL-2/MMP-3/MMP7/MMP19 inhibitor 8

(3) 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

Unigene Clusters for MMP19 Gene

Matrix metallopeptidase 19:
Representative Sequences:

Clone 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

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 33 34
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia MMP19 33 34
  • 87.29 (n)
cow
(Bos Taurus)
Mammalia MMP19 33 34
  • 87.01 (n)
rat
(Rattus norvegicus)
Mammalia Mmp19 33
  • 83.47 (n)
mouse
(Mus musculus)
Mammalia Mmp19 33 16 34
  • 82.31 (n)
oppossum
(Monodelphis domestica)
Mammalia MMP19 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MMP19 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMP19 34
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MMP19 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmp19 33
  • 62.4 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100536874 33
  • 58.13 (n)
MMP19 34
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mmp1 35
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea T21D11.1 34
  • 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 Variation AA Info Type
rs1000296454 -- 55,836,413(-) G/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000966601 -- 55,842,949(-) G/C 5_prime_UTR_variant, non_coding_transcript_variant
rs1001068529 -- 55,836,749(-) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1001145337 -- 55,843,604(-) A/G upstream_transcript_variant
rs1001637184 -- 55,842,776(-) G/A/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant

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

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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cavitary optic disc anomalies
  • coda
suppurative periapical periodontitis
  • apical abscess
- 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.

Additional Disease Information for MMP19

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
  2. Matrix metalloproteinases 19 and 20 cleave aggrecan and cartilage oligomeric matrix protein (COMP). (PMID: 10922468) Stracke JO … Knäuper V (FEBS letters 2000) 3 4 22 58
  3. 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 22 58
  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 58
  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 22 58

Products for MMP19 Gene

Sources for MMP19 Gene

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