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MMP14 Gene(Protein Coding)

Matrix Metallopeptidase 14

GCID:
GC14P024145
GIFtS:
63
Genes Participants
UDN Logo

Aliases for MMP14 Gene

Aliases for MMP14 Gene

  • Matrix Metallopeptidase 14 2 3 5
  • Matrix Metallopeptidase 14 (Membrane-Inserted) 2 3
  • Membrane-Type-1 Matrix Metalloproteinase 3 4
  • Membrane Type 1 Metalloprotease 2 3
  • EC 3.4.24.80 4 56
  • MT-MMP 1 3 4
  • MT1-MMP 3 4
  • MMP-14 3 4
  • MMP-X1 3 4
  • MT1MMP 3 4
  • MTMMP1 3 4
  • Matrix Metalloproteinase 14 (Membrane-Inserted) 2
  • Membrane-Type Matrix Metalloproteinase 1 4
  • Matrix Metalloproteinase-14 3
  • EC 3.4.24 56
  • MT-MMP 3
  • WNCHRS 3

External Ids for MMP14 Gene

Previous GeneCards Identifiers for MMP14 Gene

  • GC14P020678
  • GC14P017093
  • GC14P021295
  • GC14P022375
  • GC14P023305
  • GC14P003422
  • GC14P022837
  • GC14P022839
  • GC14P023827
  • GC14P023920
  • GC14P024028

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, And Arthropathy. Among its related pathways are Matrix Metalloproteinases and Degradation of the extracellular matrix. 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 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 , fRNAdb sequence ontologies and piRNA Summary for MMP14 Gene

Genomics for MMP14 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MMP14 Gene

Promoters and enhancers for MMP14 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
GH14I022835 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 562.1 +1.3 1277 5.4 ARID4B SIN3A YBX1 PLRG1 DMAP1 ZNF48 RAD21 YY1 RUNX3 PAF1 MMP14 NGDN ACIN1 MRPL52 LOC102724814 PRMT5 EFS RBM23 HAUS4 C14orf93
GH14I022976 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 56.1 +143.4 143373 7.6 MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 E2F8 ZNF143 AJUBA ACIN1 NGDN PRMT5 C14orf93 HAUS4 RBM23 LOC102724814 PABPN1 MMP14
GH14I023566 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 21.9 +731.8 731790 3.7 HDGF PKNOX1 FOXA2 SMAD1 ARNT MLX ZFP64 ARID4B NEUROD1 SIN3A AP1G2 KHNYN RNA5SP383 ACIN1 NGDN TM9SF1 MMP14 TINF2 PRMT5 C14orf93
GH14I023056 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22 +221.1 221064 3 HDGF PKNOX1 CLOCK MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 CDH24 LOC105370705 ACIN1 NGDN RBM23 PRMT5 PABPN1 MMP14 SLC22A17 LOC102724814
GH14I022504 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 17.1 -298.3 -298345 66.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 SSRP1 GC14P024183 GC14P024201 TRAJ6 TRAJ7 ABHD4 DAD1 C14orf93 MMP14 LOC105370399 TRAC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MMP14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MMP14 gene promoter:

Genomic Locations for MMP14 Gene

Genomic Locations for MMP14 Gene
chr14:22,836,533-22,849,027
(GRCh38/hg38)
Size:
12,495 bases
Orientation:
Plus strand
chr14:23,305,766-23,318,236
(GRCh37/hg19)

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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    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 isoforms=77, Thr291, isoforms=299, isoforms=300, Ser301, and isoforms=304

Other Protein References for MMP14 Gene

ENSEMBL proteins:
REFSEQ proteins:

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 membrane proteins
  • Predicted secreted proteins

Protein Domains for MMP14 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MMP14 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MMP14 Gene

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
UniProtKB/Swiss-Prot CatalyticActivity:
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.
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 Induction:
Up-regulated by NANOS1.

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:0004222 metalloendopeptidase activity IEA,TAS --
GO:0004252 serine-type endopeptidase activity TAS --
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 Model Products

Clone Products

  • Addgene plasmids 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
extracellular 5
cytoskeleton 5
cytosol 5
golgi apparatus 5
endosome 5
nucleus 4
mitochondrion 1
endoplasmic reticulum 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

SIGNOR curated interactions for MMP14 Gene

Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for MMP14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001541 ovarian follicle development IEA --
GO:0001666 response to hypoxia IEA --
GO:0001935 endothelial cell proliferation IEA --
GO:0001958 endochondral ossification IEA --
genes like me logo Genes that share ontologies with MMP14: view

Drugs & Compounds for MMP14 Gene

Products:

  1. Drug

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

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
Prinomastat Investigational Pharma inhibitor, Vaccine Vaccines 3
NSC 405020 Pharma MT1-MMP inhibitor 0
Ro 32-3555 Pharma MMP inhibitor 0

(36) 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

(3) 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
Ro 32-3555 MMP inhibitor 190648-49-8
genes like me logo Genes that share compounds with MMP14: view

Drug Products

Transcripts for MMP14 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MMP14 Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(178) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MMP14 Gene

Matrix metallopeptidase 14 (membrane-inserted):
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
MMP14

Expression for MMP14 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for MMP14 Gene



Protein tissue co-expression partners for MMP14 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MMP14 Gene:

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)
  • Heart(2.8)
  • Nervous system(2.8)
  • Muscle(2.5)
  • Intestine(2.4)
  • Lymph node(2.4)
  • Kidney(2.3)
  • Eye(2)
  • Gall bladder(2)
  • Stomach(2)

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

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 33 34
  • 99.89 (n)
dog
(Canis familiaris)
 Mammalia MMP-14 34
  • 97 (a)
 OneToOne
MMP14 33
  • 89.9 (n)
cow
(Bos Taurus)
 Mammalia MMP14 33 34
  • 92.03 (n)
mouse
(Mus musculus)
 Mammalia Mmp14 33 16 34
  • 89.86 (n)
rat
(Rattus norvegicus)
 Mammalia Mmp14 33
  • 89.81 (n)
oppossum
(Monodelphis domestica)
 Mammalia MMP14 34
  • 88 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MMP14 34
  • 85 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MMP14 34
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mmp14 33
  • 71.75 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.23718 33
zebrafish
(Danio rerio)
 Actinopterygii mmp14b 33 33 34
  • 68.46 (n)
mmp14a 34
  • 68 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Mmp1 35 33
  • 53.08 (n)
Mmp2 35 34
  • 30 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006904 33
  • 49.57 (n)
worm
(Caenorhabditis elegans)
 Secernentea H36L18.1 33
  • 45.74 (n)
H19M22.3a 35
  • 32 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 37 (a)
 ManyToMany
Species where no ortholog for MMP14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MMP14 Gene

Paralogs for MMP14 Gene

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

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

Variants for MMP14 Gene

Sequence variations from dbSNP and Humsavar for MMP14 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs587777039 pathogenic, Winchester syndrome, Winchester syndrome (WNCHRS) [MIM:277950] 22,836,867(+) C/G coding_sequence_variant, missense_variant
rs757044765 uncertain-significance, Winchester syndrome 22,843,420(+) C/T splice_donor_variant
rs1000465730 -- 22,843,993(+) C/T intron_variant
rs1000492144 -- 22,841,856(+) A/G intron_variant
rs1000553192 -- 22,836,248(+) A/G upstream_transcript_variant

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

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

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

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

Disorders for MMP14 Gene

MalaCards: The human disease database

(20) MalaCards diseases for MMP14 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for MMP14

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 MMP14: view

No data available for Genatlas for MMP14 Gene

Publications for MMP14 Gene

  1. 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 22 58
  2. A matrix metalloproteinase expressed on the surface of invasive tumour cells. (PMID: 8015608) Sato H … Seiki M (Nature 1994) 2 3 4 58
  3. BST-2 binding with cellular MT1-MMP blocks cell growth and migration via decreasing MMP2 activity. (PMID: 22065321) Gu G … Liu P (Journal of cellular biochemistry 2012) 3 4 58
  4. A proprotein convertase/MMP-14 proteolytic cascade releases a novel 40 kDa vasculostatin from tumor suppressor BAI1. (PMID: 22330140) Cork SM … Van Meir EG (Oncogene 2012) 3 4 58
  5. 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 58

Products for MMP14 Gene

  • Addgene plasmids for MMP14