MMP13 (matrix metallopeptidase 13)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4322
Gene name Gene Name - the full gene name approved by the HGNC.
Matrix metallopeptidase 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MMP13
Synonyms (NCBI Gene) Gene synonyms aliases
CLG3, MANDP1, MDST, MMP-13
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q22.2
Summary Summary of gene provided in NCBI Entrez 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 t
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
SNP ID Visualize variation Clinical significance Consequence
rs17860530 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs121909497 A>G Pathogenic Coding sequence variant, missense variant
rs121909498 A>G Pathogenic Coding sequence variant, missense variant
rs121909499 A>G Pathogenic Coding sequence variant, missense variant
rs121909500 G>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
miRTarBase ID miRNA Experiments Reference
MIRT000737 hsa-miR-199a-5p Review 19574400
MIRT000734 hsa-miR-145-5p Review 19574400
MIRT000025 hsa-miR-9-5p Luciferase reporter assay 19008124
MIRT003427 hsa-miR-27b-3p ELISA, Luciferase reporter assay, qRT-PCR, Western blot 20131257
MIRT003420 hsa-miR-100-5p Microarray, qRT-PCR, Western blot 19396866
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
Transcription factor Regulation Reference
CITED2 Repression 12960175
ESR1 Unknown 19185056
ETS1 Activation 22270366
HDAC4 Repression 17656568;19423655
HDAC9 Activation 18054336
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(37)
GO ID Ontology Definition Evidence Reference
GO:0001958 Process Endochondral ossification IEA
GO:0003417 Process Growth plate cartilage development IEA
GO:0004175 Function Endopeptidase activity IDA 18164633
GO:0004175 Function Endopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600108 7159 ENSG00000137745
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P45452
Protein name Collagenase 3 (EC 3.4.24.-) (Matrix metalloproteinase-13) (MMP-13)
Protein 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 solubl
PDB 1EUB , 1FLS , 1FM1 , 1PEX , 1XUC , 1XUD , 1XUR , 1YOU , 1ZTQ , 2D1N , 2E2D , 2OW9 , 2OZR , 2PJT , 2YIG , 3ELM , 3I7G , 3I7I , 3KEC , 3KEJ , 3KEK , 3KRY , 3LJZ , 3O2X , 3TVC , 3WV1 , 3WV2 , 3WV3 , 3ZXH , 456C , 4A7B , 4FU4 , 4FVL , 4G0D , 4JP4 , 4JPA , 4L19 , 5B5O , 5B5P , 5BOT , 5BOY , 5BPA , 5UWK , 5UWL , 5UWM , 5UWN , 7JU8 , 830C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01471 PG_binding_1 32 → 91 Putative peptidoglycan binding domain Domain
PF00413 Peptidase_M10 112 → 267 Matrixin Domain
PF00045 Hemopexin 290 → 332 Hemopexin Repeat
PF00045 Hemopexin 334 → 377 Hemopexin Repeat
PF00045 Hemopexin 382 → 429 Hemopexin Repeat
PF00045 Hemopexin 431 → 471 Hemopexin Repeat
Tissue specificity 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
Sequence
Sequence length 471
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  IL-17 signaling pathway
Relaxin signaling pathway
Parathyroid hormone synthesis, secretion and action 		  Collagen degradation
Degradation of the extracellular matrix
Activation of Matrix Metalloproteinases
Assembly of collagen fibrils and other multimeric structures
RUNX2 regulates genes involved in cell migration
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Metaphyseal Anadysplasia Metaphyseal anadysplasia 1, autosomal dominant rs121909498, rs121909499, rs140059558 N/A
Metaphyseal Chondrodysplasia metaphyseal chondrodysplasia, spahr type rs369083541, rs121909500, rs140059558 N/A
Spondyloepimetaphyseal dysplasia spondyloepimetaphyseal dysplasia, missouri type rs1565256477, rs121909497, rs121909499 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Show/Hide Text Mining Associations (190)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Associate 22710868
Achondrogenesis type 2 Associate 31277141, 36939200
Adenocarcinoma Associate 24563279
Adenocarcinoma of Lung Stimulate 27227769
Adenocarcinoma of Lung Associate 37000142
Adenoma Associate 24563279
Adenomatous Polyps Associate 24563279
Adrenal Hyperplasia Congenital Associate 24380766
Alzheimer Disease Associate 33892965
Aneurysm Associate 18971037, 23913860, 26918470