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Aliases for MMP13 Gene

Aliases for MMP13 Gene

  • Matrix Metallopeptidase 13 2 3 5
  • Matrix Metalloproteinase 13 (Collagenase 3) 2 3
  • Collagenase 3 2 3
  • MMP-13 3 4
  • Matrix Metalloproteinase-13 4
  • EC 3.4.24.35 56
  • EC 3.4.24.22 56
  • EC 3.4.24.24 56
  • EC 3.4.24.65 56
  • EC 3.4.24.7 56
  • EC 3.4.24.- 4
  • EC 3.4.24 56
  • MANDP1 3
  • CLG3 3
  • MDST 3

External Ids for MMP13 Gene

Previous GeneCards Identifiers for MMP13 Gene

  • GC11M105007
  • GC11M104170
  • GC11M102847
  • GC11M102351
  • GC11M102318
  • GC11M098741

Summaries for MMP13 Gene

Entrez Gene Summary for MMP13 Gene

  • This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this 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. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

GeneCards Summary for MMP13 Gene

MMP13 (Matrix Metallopeptidase 13) is a Protein Coding gene. Diseases associated with MMP13 include Spondyloepimetaphyseal Dysplasia, Missouri Type and Metaphyseal Dysplasia, Spahr Type. Among its related pathways are Matrix Metalloproteinases and Relaxin signaling pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and metalloendopeptidase activity. An important paralog of this gene is MMP3.

UniProtKB/Swiss-Prot for MMP13 Gene

  • Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. Cleaves triple helical collagens, including type I, type II and type III collagen, but has the highest activity with soluble type II collagen. Can also degrade collagen type IV, type XIV and type X. May also function by activating or degrading key regulatory proteins, such as TGFB1 and CTGF. Plays a role in wound healing, tissue remodeling, cartilage degradation, bone development, bone mineralization and ossification. Required for normal embryonic bone development and ossification. Plays a role in the healing of bone fractures via endochondral ossification. Plays a role in wound healing, probably by a mechanism that involves proteolytic activation of TGFB1 and degradation of CTGF. Plays a role in keratinocyte migration during wound healing. May play a role in cell migration and in tumor cell invasion.

Tocris Summary for MMP13 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 MMP13 Gene

Additional gene information for MMP13 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMP13 Gene

Genomics for MMP13 Gene

GeneHancer (GH) Regulatory Elements for MMP13 Gene

Promoters and enhancers for MMP13 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
GH11I102955 Promoter 0.8 EPDnew 550.8 0.0 -18 0.1 JUND ZNF316 NFE2 FOS MAFK EMSY MMP13 ENSG00000276521
GH11I102919 Enhancer 0.8 Ensembl ENCODE 11.1 +35.4 35377 0.9 PKNOX1 ZNF687 TRIM22 BMI1 ELF1 DPF2 TARDBP IKZF1 NBN MLLT1 MMP13 MMP3 RNU7-159P
GH11I102928 Enhancer 0.6 ENCODE 10.9 +25.9 25862 2.8 ZNF687 MAX DPF2 YY1 ZNF217 JUND ATF3 IKZF1 HNF4A ATF7 MMP13 RNU7-159P MMP3 MMP1
GH11I103043 Enhancer 0.6 ENCODE 9.7 -88.3 -88291 1.2 RXRA L3MBTL2 MAFG USF2 YY1 MITF ZNF316 IKZF1 GABPB1 EMSY GC11P103046 RPL21P96 RNU7-159P MMP13 MMP8 ENSG00000276521
GH11I102783 Enhancer 0.6 ENCODE 9.4 +171.9 171918 1.5 ZNF146 ATF2 GATA3 JUND ZNF366 BCL11A ATF7 FOS MMP3 MMP13 MMP10 MMP1 WTAPP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MMP13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MMP13 gene promoter:

Genomic Locations for MMP13 Gene

Genomic Locations for MMP13 Gene
chr11:102,942,992-102,955,734
(GRCh38/hg38)
Size:
12,743 bases
Orientation:
Minus strand
chr11:102,813,721-102,826,463
(GRCh37/hg19)

Genomic View for MMP13 Gene

Genes around MMP13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMP13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMP13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMP13 Gene

Proteins for MMP13 Gene

  • Protein details for MMP13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P45452-MMP13_HUMAN
    Recommended name:
    Collagenase 3
    Protein Accession:
    P45452
    Secondary Accessions:
    • A8K846
    • B2RCZ3
    • Q6NWN6

    Protein attributes for MMP13 Gene

    Size:
    471 amino acids
    Molecular mass:
    53820 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer. Interacts with TIMP1, TIMP2 and TIMP3. Binds (via the C-terminal region) to collagen.

    Three dimensional structures from OCA and Proteopedia for MMP13 Gene

neXtProt entry for MMP13 Gene

Selected DME Specific Peptides for MMP13 Gene

P45452:
  • FKDRFFWRLHPQ
  • PRCGVPD
  • VWSDVTPL
  • GLLAHAFPPG
  • NGYIYFF
  • CGVPDVGEY
  • YRIVNYT
  • LFLVAAHE
  • KFWALNGYDI
  • KSFWPELPN
  • TPDKCDP
  • LPDDDVQGIQ
  • GGDAHFDDDETWTSSSKGYNLF
  • VAAHEFGH
  • QFEYSIWS
  • KHPKTPDKCDPSLSLDAITSLRGET
  • GHSLGLDH
  • GIQSLYG
  • KVWSDVTPL
  • DLIFIFRG
  • GLLAHAF
  • FKDRFFW

Post-translational modifications for MMP13 Gene

  • N-glycosylated.
  • The proenzyme is activated by removal of the propeptide; this cleavage can be effected by other matrix metalloproteinases, such as MMP2, MMP3 and MMP14 and may involve several cleavage steps. Cleavage can also be autocatalytic, after partial maturation by another protease or after treatment with 4-aminophenylmercuric acetate (APMA) (in vitro).
  • Tyrosine phosphorylated by PKDCC/VLK.
  • Glycosylation at isoforms=117 and isoforms=152

Other Protein References for MMP13 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MMP13 Gene

Gene Families for MMP13 Gene

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

Suggested Antigen Peptide Sequences for MMP13 Gene

Graphical View of Domain Structure for InterPro Entry

P45452

UniProtKB/Swiss-Prot:

MMP13_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 (By similarity).
  • 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 (By similarity).
  • The C-terminal region binds to collagen.
Family:
  • Belongs to the peptidase M10A family.
genes like me logo Genes that share domains with MMP13: view

Function for MMP13 Gene

Molecular function for MMP13 Gene

GENATLAS Biochemistry:
matrix metalloproteinase 13,regulator of matrix remodeling component of the MMP cluster,expressed in the synovial membrane and synovial fibroblasts of patients with rheumatoid arthritis,overexpressed by smooth muscle cells in abdominal aortic aneurysm
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by TIMP1, TIMP2 and TIMP3. Inhibited by acetohydroxamic acid and other zinc chelators.
UniProtKB/Swiss-Prot Function:
Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. Cleaves triple helical collagens, including type I, type II and type III collagen, but has the highest activity with soluble type II collagen. Can also degrade collagen type IV, type XIV and type X. May also function by activating or degrading key regulatory proteins, such as TGFB1 and CTGF. Plays a role in wound healing, tissue remodeling, cartilage degradation, bone development, bone mineralization and ossification. Required for normal embryonic bone development and ossification. Plays a role in the healing of bone fractures via endochondral ossification. Plays a role in wound healing, probably by a mechanism that involves proteolytic activation of TGFB1 and degradation of CTGF. Plays a role in keratinocyte migration during wound healing. May play a role in cell migration and in tumor cell invasion.
UniProtKB/Swiss-Prot Induction:
Up-regulated by TNF and IL1B.

Phenotypes From GWAS Catalog for MMP13 Gene

Gene Ontology (GO) - Molecular Function for MMP13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA,TAS --
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005509 calcium ion binding IDA 23913860
GO:0005518 collagen binding IDA 9065415
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with MMP13: view
genes like me logo Genes that share phenotypes with MMP13: view

Human Phenotype Ontology for MMP13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MMP13 Gene

MGI Knock Outs for MMP13:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for MMP13 Gene

Localization for MMP13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMP13 Gene

Secreted, extracellular space, extracellular matrix. Secreted.

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 MMP13 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MMP13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space TAS 8207000
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with MMP13: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MMP13 Gene

Pathways & Interactions for MMP13 Gene

genes like me logo Genes that share pathways with MMP13: view

Gene Ontology (GO) - Biological Process for MMP13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001958 endochondral ossification IEA --
GO:0003417 growth plate cartilage development IEA --
GO:0006508 proteolysis IEA --
GO:0022617 extracellular matrix disassembly IEA,TAS --
GO:0030282 bone mineralization IEA --
genes like me logo Genes that share ontologies with MMP13: view

No data available for SIGNOR curated interactions for MMP13 Gene

Drugs & Compounds for MMP13 Gene

(61) Drugs for MMP13 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, 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
1-Methyloxy-4-Sulfone-Benzene Experimental Pharma Target 0
2-{4-[4-(4-Chloro-Phenoxy)-Benzenesulfonyl]-Tetrahydro-Pyran-4-Yl}-N-Hydroxy-Acetamide Experimental Pharma Target 0
3-Methylpyridine Experimental Pharma Target 0

(41) Additional Compounds for MMP13 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) Tocris Compounds for MMP13 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

(4) ApexBio Compounds for MMP13 Gene

Compound Action Cas Number
CL 82198 hydrochloride Selective MMP-13 inhibitor 307002-71-7
CP 471474 Broad spectrum MMP inhibitor 210755-45-6
PD 166793 MMP inhibitor 199850-67-4
WAY 170523 MMP-13 inhibitor,potent and selective 307002-73-9
genes like me logo Genes that share compounds with MMP13: view

Drug Products

Transcripts for MMP13 Gene

mRNA/cDNA for MMP13 Gene

Unigene Clusters for MMP13 Gene

Matrix metallopeptidase 13 (collagenase 3):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MMP13 Gene

No ASD Table

Relevant External Links for MMP13 Gene

GeneLoc Exon Structure for
MMP13
ECgene alternative splicing isoforms for
MMP13

Expression for MMP13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MMP13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MMP13 Gene

This gene is overexpressed in Pituitary (x9.6), Vagina (x8.2), Prostate (x6.8), and Skin - Sun Exposed (Lower leg) (x4.5).

Protein differential expression in normal tissues from HIPED for MMP13 Gene

This gene is overexpressed in Heart (45.2) and Kidney (23.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MMP13 Gene



Protein tissue co-expression partners for MMP13 Gene

NURSA nuclear receptor signaling pathways regulating expression of MMP13 Gene:

MMP13

SOURCE GeneReport for Unigene cluster for MMP13 Gene:

Hs.2936

mRNA Expression by UniProt/SwissProt for MMP13 Gene:

P45452-MMP13_HUMAN
Tissue specificity: Detected in fetal cartilage and calvaria, in chondrocytes of hypertrophic cartilage in vertebrae and in the dorsal end of ribs undergoing ossification, as well as in osteoblasts and periosteal cells below the inner periosteal region of ossified ribs. Detected in chondrocytes from in joint cartilage that have been treated with TNF and IL1B, but not in untreated chondrocytes. Detected in T lymphocytes. Detected in breast carcinoma tissue.

Evidence on tissue expression from TISSUES for MMP13 Gene

  • Lung(4.3)
  • Bone(3.2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MMP13 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • 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:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MMP13: view

Primer Products

Orthologs for MMP13 Gene

This gene was present in the common ancestor of animals.

Orthologs for MMP13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MMP13 33 34
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia MMP13 33 34
  • 89.86 (n)
cow
(Bos Taurus)
Mammalia MMP13 33 34
  • 89.67 (n)
mouse
(Mus musculus)
Mammalia Mmp13 33 16 34
  • 85.35 (n)
rat
(Rattus norvegicus)
Mammalia Mmp13 33
  • 85.35 (n)
oppossum
(Monodelphis domestica)
Mammalia MMP13 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MMP13 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMP13 33 34
  • 73.63 (n)
lizard
(Anolis carolinensis)
Reptilia MMP13 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490019 33
  • 67.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia gene 33
zebrafish
(Danio rerio)
Actinopterygii mmp13b 33 34
  • 61.38 (n)
mmp13a 34
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_C31B8.8 33
  • 46.17 (n)
C31B8.8 35
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
OneToMany
Species where no ortholog for MMP13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 MMP13 Gene

ENSEMBL:
Gene Tree for MMP13 (if available)
TreeFam:
Gene Tree for MMP13 (if available)

Paralogs for MMP13 Gene

genes like me logo Genes that share paralogs with MMP13: view

Variants for MMP13 Gene

Sequence variations from dbSNP and Humsavar for MMP13 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1018380265 uncertain-significance, Spondyloepimetaphyseal dysplasia, Metaphyseal anadysplasia 102,943,164(-) A/G 3_prime_UTR_variant
rs1042840 benign, Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia 102,943,381(-) T/C 3_prime_UTR_variant
rs114428333 likely-benign, Spondyloepimetaphyseal dysplasia, Metaphyseal anadysplasia 102,943,638(-) T/C 3_prime_UTR_variant
rs121909497 pathogenic, Spondyloepimetaphyseal dysplasia, Missouri type, Spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO) [MIM:602111] 102,955,390(-) A/G coding_sequence_variant, missense_variant
rs121909498 pathogenic, Metaphyseal anadysplasia 1, autosomal dominant, Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111] 102,955,393(-) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for MMP13 Gene

Variant ID Type Subtype PubMed ID
nsv465 CNV deletion 18451855
nsv464 CNV insertion 18451855
nsv1134171 CNV deletion 24896259

Variation tolerance for MMP13 Gene

Residual Variation Intolerance Score: 75.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.27; 40.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MMP13 Gene

Human Gene Mutation Database (HGMD)
MMP13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMP13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMP13 Gene

Disorders for MMP13 Gene

MalaCards: The human disease database

(30) MalaCards diseases for MMP13 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spondyloepimetaphyseal dysplasia, missouri type
  • semd, missouri type
metaphyseal dysplasia, spahr type
  • mcds
metaphyseal anadysplasia
  • mad
arthritis
  • inflammatory disorder of joint
inguinal hernia
  • hernia inguinal
- elite association - COSMIC cancer census association via MalaCards
Search MMP13 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MMP13_HUMAN
  • Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111]: A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. {ECO:0000269 PubMed:19615667}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Metaphyseal dysplasia, Spahr type (MDST) [MIM:250400]: An autosomal recessive, rare disease characterized by moderate short stature, mild genua vara, and radiographic signs of metaphyseal dysplasia, but no biochemical signs of rickets. {ECO:0000269 PubMed:24648384, ECO:0000269 PubMed:24781753}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO) [MIM:602111]: A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age. {ECO:0000269 PubMed:16167086}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MMP13

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 MMP13: view

No data available for Genatlas for MMP13 Gene

Publications for MMP13 Gene

  1. Discovery and characterization of a novel inhibitor of matrix metalloprotease-13 that reduces cartilage damage in vivo without joint fibroplasia side effects. (PMID: 17623656) Johnson AR … Dyer RD (The Journal of biological chemistry 2007) 3 4 22 58
  2. MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). (PMID: 16167086) Kennedy AM … Thakker RV (The Journal of clinical investigation 2005) 3 4 22 58
  3. MMP13 promoter polymorphism is associated with atherosclerosis in the abdominal aorta of young black males. (PMID: 12392760) Yoon S … Tromp G (Matrix biology : journal of the International Society for Matrix Biology 2002) 3 22 44 58
  4. A matrix metalloproteinase gene expressed in human T lymphocytes is identical with collagenase 3 from breast carcinomas. (PMID: 9562863) Willmroth F … Conca W (Immunobiology 1998) 3 4 22 58
  5. Biochemical characterization of human collagenase-3. (PMID: 8576151) Knäuper V … Murphy G (The Journal of biological chemistry 1996) 3 4 22 58

Products for MMP13 Gene

Sources for MMP13 Gene

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