MMP14 Gene (Protein Coding)

Matrix Metallopeptidase 14

GC14P025566
GIFtS:
52
Proteins of the matrix metalloproteinase (MMP) family 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular prot... See more...

Aliases for MMP14 Gene

Aliases for MMP14 Gene

  • Matrix Metallopeptidase 14 2 3 5
  • MT1-MMP 2 3 4
  • Matrix Metallopeptidase 14 (Membrane-Inserted) 2 3
  • Membrane-Type-1 Matrix Metalloproteinase 3 4
  • Membrane Type 1 Metalloprotease 2 3
  • Matrix Metalloproteinase-14 3 4
  • EC 3.4.24.80 4 51
  • MT-MMP 1 3 4
  • MMP-14 3 4
  • MMP-X1 3 4
  • MT1MMP 3 4
  • MTMMP1 3 4
  • Matrix Metalloproteinase 14 (Membrane-Inserted) 2
  • Membrane Type 1-Matrix Metalloproteinase 2
  • Membrane-Type Matrix Metalloproteinase 1 4
  • EC 3.4.24 51
  • MT-MMP 3
  • WNCHRS 3
  • MMP14 5

External Ids for MMP14 Gene

Previous GeneCards Identifiers for MMP14 Gene

  • GC14P020678
  • GC14P017093
  • GC14P021295
  • GC14P022375
  • GC14P023305
  • GC14P003422
  • GC14P022837
  • GC14P024483
  • GC14P024599
  • GC14P024724
  • GC14P025005
  • GC14P022839
  • GC14P023827
  • GC14P023920
  • GC14P024028
  • GC14P024145
  • GC14P024255
  • GC14P024368
  • GC14P025277

Summaries for MMP14 Gene

Entrez Gene Summary for MMP14 Gene

  • Proteins of the matrix metalloproteinase (MMP) family 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]

GeneCards Summary for MMP14 Gene

MMP14 (Matrix Metallopeptidase 14) is a Protein Coding gene. Diseases associated with MMP14 include Winchester Syndrome and Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum. Among its related pathways are Degradation of the extracellular matrix and Senescence and Autophagy in Cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and metalloendopeptidase activity. An important paralog of this gene is MMP15.

UniProtKB/Swiss-Prot Summary for MMP14 Gene

  • Endopeptidase that degrades various components of the extracellular matrix such as collagen. Activates progelatinase A. Essential for pericellular collagenolysis and modeling of skeletal and extraskeletal connective tissues during development (By similarity). May be involved in actin cytoskeleton reorganization by cleaving PTK7 (PubMed:20837484). Acts as a positive regulator of cell growth and migration via activation of MMP15. Involved in the formation of the fibrovascular tissues in association with pro-MMP2 (PubMed:12714657). Cleaves ADGRB1 to release vasculostatin-40 which inhibits angiogenesis (PubMed:22330140).

Tocris Summary for MMP14 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 MMP14 Gene

Additional gene information for MMP14 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MMP14 Gene

Genomics for MMP14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MMP14 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 MMP14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MMP14

Top Transcription factor binding sites by QIAGEN in the MMP14 gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • AP-4
  • AREB6
  • ATF-2
  • c-Jun

Genomic Locations for MMP14 Gene

Latest Assembly
chr14:22,836,560-22,849,041
(GRCh38/hg38)
Size:
12,482 bases
Orientation:
Plus strand

Previous Assembly
chr14:23,305,794-23,316,967
(GRCh37/hg19 by Entrez Gene)
Size:
11,174 bases
Orientation:
Plus strand

chr14:23,305,766-23,318,236
(GRCh37/hg19 by Ensembl)
Size:
12,471 bases
Orientation:
Plus strand

Genomic View for MMP14 Gene

Genes around MMP14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMP14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMP14 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MMP14 Gene

Proteins for MMP14 Gene

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  • Protein details for MMP14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50281-MMP14_HUMAN
    Recommended name:
    Matrix metalloproteinase-14
    Protein Accession:
    P50281
    Secondary Accessions:
    • A8K5L0
    • Q6GSF3
    • Q92678

    Protein attributes for MMP14 Gene

    Size:
    582 amino acids
    Molecular mass:
    65894 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts (via C-terminal cytoplasmic tail) with BST2. Interacts with DLL1; inhibits DLL1-induced Notch signaling (PubMed:21572390).

    Three dimensional structures from OCA and Proteopedia for MMP14 Gene

neXtProt entry for MMP14 Gene

Protein Expression for MMP14 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MMP14 Gene

P50281:
  • GGFLAHAYFPGP
  • NYTPKVGE
  • PRCGVPD
  • AIMAPFYQ
  • RGIQQLYG
  • FVFFKGD
  • LRDWMGC
  • GHALGLEHS
  • EAIRKAFRVWESATPLRFREVPYAYIREGHEKQAD
  • AMRRPRCGVPDKFG
  • LKVEPGYP
  • LPTDKIDAALFWMPNGK
  • VLPVLLLL
  • RGEMFVFK
  • LLLPLLTLGTALASLG
  • DDRRGIQ

Post-translational modifications for MMP14 Gene

  • The precursor is cleaved by a furin endopeptidase.
  • Tyrosine phosphorylated by PKDCC/VLK.
  • Glycosylation at Thr77, Thr291, Thr299, Thr300, Ser301, and Ser304
  • Modification sites at PhosphoSitePlus

Other Protein References for MMP14 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for MMP14

Domains & Families for MMP14 Gene

Gene Families for MMP14 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MMP14 Gene

InterPro:
Blocks:
  • Hemopexin repeat
  • Matrixin
  • Putative peptidoglycan binding domain 1
ProtoNet:

Suggested Antigen Peptide Sequences for MMP14 Gene

GenScript: Design optimal peptide antigens:
  • Membrane-type-1 matrix metalloproteinase (MMP14_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P50281

UniProtKB/Swiss-Prot:

MMP14_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 MMP14: view

Function for MMP14 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for MMP14 Gene

UniProtKB/Swiss-Prot Function:
Endopeptidase that degrades various components of the extracellular matrix such as collagen. Activates progelatinase A. Essential for pericellular collagenolysis and modeling of skeletal and extraskeletal connective tissues during development (By similarity). May be involved in actin cytoskeleton reorganization by cleaving PTK7 (PubMed:20837484). Acts as a positive regulator of cell growth and migration via activation of MMP15. Involved in the formation of the fibrovascular tissues in association with pro-MMP2 (PubMed:12714657). Cleaves ADGRB1 to release vasculostatin-40 which inhibits angiogenesis (PubMed:22330140).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Endopeptidase activity. Activates progelatinase A by cleavage of the propeptide at 37-Asn-|-Leu-38. Other bonds hydrolyzed include 35-Gly-|-Ile-36 in the propeptide of collagenase 3, and 341-Asn-|-Phe-342, 441-Asp-|-Leu-442 and 354-Gln-|-Thr-355 in the aggrecan interglobular domain.; EC=3.4.24.80;.
UniProtKB/Swiss-Prot Induction:
Up-regulated by NANOS1.
GENATLAS Biochemistry:
matrix metalloproteinase 14,regulator in matrix remodeling in the MMP cluster,membrane-type,involved in pathophysiology of malignant gliomas by glial invasion and angiogenesis,required for the activation of MMP2 in the stronal cancer cells

Enzyme Numbers (IUBMB) for MMP14 Gene

Phenotypes From GWAS Catalog for MMP14 Gene

Gene Ontology (GO) - Molecular Function for MMP14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IDA 20666777
GO:0004222 metalloendopeptidase activity TAS,ISS --
GO:0005178 integrin binding IEA --
GO:0005515 protein binding IPI 14718544
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with MMP14: view
genes like me logo Genes that share phenotypes with MMP14: view

Human Phenotype Ontology for MMP14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MMP14 Gene

MGI Knock Outs for MMP14:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMP14

No data available for Transcription Factor Targets and HOMER Transcription for MMP14 Gene

Localization for MMP14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMP14 Gene

Membrane. Single-pass type I membrane protein. Melanosome. Cytoplasm. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Forms a complex with BST2 and localizes to the cytoplasm.

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 MMP14 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
endosome 5
extracellular 4
nucleus 4
cytosol 4
golgi apparatus 4
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MMP14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IMP 24784232
GO:0005634 nucleus IMP 24784232
GO:0005737 colocalizes_with cytoplasm IEA,IDA 22065321
GO:0005796 Golgi lumen TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with MMP14: view

Pathways & Interactions for MMP14 Gene

genes like me logo Genes that share pathways with MMP14: view

Pathways by source for MMP14 Gene

1 GeneGo (Thomson Reuters) pathway for MMP14 Gene
  • Cell adhesion_ECM remodeling
2 Qiagen pathways for MMP14 Gene
  • Colorectal Cancer Metastasis
  • Inhibition of Matrix Metalloproteinases
1 Cell Signaling Technology pathway for MMP14 Gene

SIGNOR curated interactions for MMP14 Gene

Inactivates:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for MMP14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IBA 21873635
GO:0001503 ossification IEA --
GO:0001525 angiogenesis IEA --
GO:0001541 ovarian follicle development IEA --
GO:0001666 response to hypoxia IEA --
genes like me logo Genes that share ontologies with MMP14: view

Drugs & Compounds for MMP14 Gene

Products:

  1. Drug products for research

(44) Drugs for MMP14 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Marimastat Investigational Pharma Target, inhibitor MMPs inhibitor,board spectrum 4
Prinomastat Investigational Pharma inhibitor, Vaccine Vaccines 3
Calcium Nutra 6876
NSC 405020 Pharma MT1-MMP inhibitor 0
ARP 100 Pharma Selective MMP-2 inhibitor, Selective inhibitor of MMP-2 0

(35) Additional Compounds for MMP14 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) Tocris Compounds for MMP14 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

(2) ApexBio Compounds for MMP14 Gene

Compound Action Cas Number
Marimastat MMPs inhibitor,board spectrum 154039-60-8
NSC 405020 MT1-MMP inhibitor 7497-07-6
genes like me logo Genes that share compounds with MMP14: view

Drug products for research

Transcripts for MMP14 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for MMP14 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMP14

Alternative Splicing Database (ASD) splice patterns (SP) for MMP14 Gene

No ASD Table

Relevant External Links for MMP14 Gene

GeneLoc Exon Structure for
MMP14

Expression for MMP14 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MMP14 Gene

mRNA expression in normal human tissues for MMP14 Gene
mRNA expression by BioGPS for MMP14 GenemRNA expression by GTEx for MMP14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MMP14 Gene

This gene is overexpressed in Amniocyte (42.1), Bone (8.3), and Liver (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MMP14 Gene



Protein tissue co-expression partners for MMP14 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MMP14

SOURCE GeneReport for Unigene cluster for MMP14 Gene:

Hs.2399

mRNA Expression by UniProt/SwissProt for MMP14 Gene:

P50281-MMP14_HUMAN
Tissue specificity: Expressed in stromal cells of colon, breast, and head and neck. Expressed in lung tumors.

Evidence on tissue expression from TISSUES for MMP14 Gene

  • Lung(4.7)
  • Skin(4.6)
  • Nervous system(3.1)
  • Heart(2.9)
  • Intestine(2.9)
  • Muscle(2.8)
  • Lymph node(2.7)
  • Kidney(2.7)
  • Stomach(2.5)
  • Gall bladder(2.4)
  • Spleen(2.4)
  • Liver(2.4)
  • Pancreas(2.4)
  • Blood(2.3)
  • Eye(2.3)
  • Thyroid gland(2.2)
  • Bone(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MMP14 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MMP14: view

Primer products for research

No data available for mRNA differential expression in normal tissues for MMP14 Gene

Orthologs for MMP14 Gene

This gene was present in the common ancestor of animals.

Orthologs for MMP14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MMP14 30 31
  • 99.89 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MMP-14 31
  • 97 (a)
 OneToOne
MMP14 30
  • 89.9 (n)
Cow
(Bos Taurus)
 Mammalia MMP14 30 31
  • 92.03 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mmp14 30 17 31
  • 89.86 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mmp14 30
  • 89.81 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MMP14 31
  • 88 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MMP14 31
  • 85 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MMP14 31
  • 82 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mmp14 30
  • 71.75 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.23718 30
Zebrafish
(Danio rerio)
 Actinopterygii mmp14b 30 30 31
  • 68.46 (n)
 OneToMany
mmp14a 31
  • 68 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Mmp1 30 32
  • 53.08 (n)
Mmp2 31 32
  • 26 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006904 30
  • 49.57 (n)
Worm
(Caenorhabditis elegans)
 Secernentea H36L18.1 30
  • 45.74 (n)
H19M22.3a 32
  • 32 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 37 (a)
 ManyToMany
Species where no ortholog for MMP14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chicken (Gallus gallus)
  • 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 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 MMP14 Gene

ENSEMBL:
Gene Tree for MMP14 (if available)
TreeFam:
Gene Tree for MMP14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MMP14: view image

Paralogs for MMP14 Gene

Paralogs for MMP14 Gene

(18) SIMAP similar genes for MMP14 Gene using alignment to 4 proteins:

  • MMP14_HUMAN
  • F8VP90_HUMAN
  • F8W1B7_HUMAN
  • K4RH61_HUMAN
genes like me logo Genes that share paralogs with MMP14: view

Variants for MMP14 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MMP14 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs138999323 Benign: not provided 22,844,475(+) C/T
NM_004995.4(MMP14):c.1116C>T (p.Tyr372=) 		SYNONYMOUS
rs139288377 Likely Benign: not provided 22,841,491(+) G/C
NM_004995.4(MMP14):c.109G>C (p.Ala37Pro) 		MISSENSE
rs147241325 Likely Benign: not provided 22,844,373(+) G/A
NM_004995.4(MMP14):c.1014G>A (p.Glu338=) 		SYNONYMOUS
rs148273315 Likely Benign: not provided 22,845,724(+) C/T
NM_004995.4(MMP14):c.1434C>T (p.Tyr478=) 		SYNONYMOUS
rs1595014702 Uncertain Significance: Winchester syndrome 22,842,571(+) T/C
NM_004995.4(MMP14):c.542T>C (p.Phe181Ser) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MMP14 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MMP14 Gene

Variant ID Type Subtype PubMed ID
esv3633763 CNV gain 21293372
nsv1070211 CNV deletion 25765185
nsv1143607 CNV deletion 24896259
nsv563998 CNV gain 21841781
nsv952816 CNV deletion 24416366

Variation tolerance for MMP14 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.83; 79.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MMP14 Gene

Human Gene Mutation Database (HGMD)
MMP14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMP14

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMP14 Gene

Disorders for MMP14 Gene

MalaCards: The human disease database

(38) MalaCards diseases for MMP14 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
winchester syndrome
  • wnchrs
multicentric osteolysis-nodulosis-arthropathy spectrum
  • mona spectrum
fibrosarcoma
  • fibrocytic tumor
cervical squamous cell carcinoma
  • squamous cell carcinoma of cervix
larynx cancer
  • laryngeal carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search MMP14 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MMP14_HUMAN
  • Winchester syndrome (WNCHRS) [MIM:277950]: A disease characterized by severe osteolysis in the hands and feet, generalized osteoporosis, bone thinning, and absence of subcutaneous nodules. Various additional features include coarse face, corneal opacities, gum hypertrophy, and EKG changes. {ECO:0000269 PubMed:22922033}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MMP14

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MMP14: view

No data available for Genatlas for MMP14 Gene

Publications for MMP14 Gene

  1. Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. (PMID: 22922033) Evans BR … Martignetti JA (American journal of human genetics 2012) 3 4 74
  2. Association of metalloproteinase gene polymorphisms with systemic sclerosis in the European Caucasian population. (PMID: 20110530) Wipff J … Allanore Y (The Journal of rheumatology 2010) 3 23 41
  3. Matrix metalloproteinase gene polymorphisms and bronchopulmonary dysplasia: identification of MMP16 as a new player in lung development. (PMID: 18784838) Hadchouel A … Delacourt C (PloS one 2008) 3 23 41
  4. Crystal structure of the complex formed by the membrane type 1-matrix metalloproteinase with the tissue inhibitor of metalloproteinases-2, the soluble progelatinase A receptor. (PMID: 9724659) Fernandez-Catalan C … Maskos K (The EMBO journal 1998) 3 4 23
  5. Regulation of membrane-type matrix metalloproteinase-1 expression by growth factors and phorbol 12-myristate 13-acetate. (PMID: 8706726) Lohi J … Keski-Oja J (European journal of biochemistry 1996) 3 4 23

ExternalLinks

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  • Addgene plasmids for MMP14