Gene Gene information from NCBI Gene database.
Entrez ID 4322
Gene name Matrix metallopeptidase 13
Gene symbol MMP13
Synonyms (NCBI Gene)
CLG3MANDP1MDSTMMP-13
Chromosome 11
Chromosome location 11q22.2
Summary 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.
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.
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 ELISALuciferase reporter assayqRT-PCRWestern blot 20131257
MIRT003420 hsa-miR-100-5p MicroarrayqRT-PCRWestern blot 19396866
Transcription factors Transcription factors information provided by TRRUST V2 database.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600108 7159 ENSG00000137745
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
165
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer Likely pathogenic rs368922836 RCV005925409
Metaphyseal anadysplasia 1, autosomal dominant Likely pathogenic; Pathogenic rs748468302, rs140059558, rs121909498, rs121909499 RCV002271832
RCV004019951
RCV000010051
RCV000010052
Metaphyseal chondrodysplasia, Spahr type Likely pathogenic; Pathogenic rs140059558, rs369083541, rs121909499, rs121909500 RCV000162347
RCV000162348
RCV004795389
RCV000010053
MMP13-related disorder Likely pathogenic; Pathogenic rs797044754 RCV004528951
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs17860556 RCV005891931
Intellectual disability Conflicting classifications of pathogenicity rs781966264 RCV005626560
Malignant lymphoma, large B-cell, diffuse Benign rs17860556 RCV005891932
Metaphyseal anadysplasia Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign rs17860530, rs1042840, rs886047552, rs886047555, rs781825443, rs17860568, rs200537937, rs886047550, rs35477433, rs886047556, rs145425594, rs185832993, rs142601143, rs782723542, rs886047551
View all (38 more)
RCV001105674
RCV000305964
RCV000321253
RCV000387291
RCV000397357
RCV000326758
RCV000394257
RCV000349456
RCV000364412
RCV000288782
RCV000406196
RCV000334477
RCV000273496
RCV000373260
RCV000398225
RCV000262290
RCV000372044
RCV000332656
RCV000347361
RCV000397360
RCV000260906
RCV000381273
RCV000338592
RCV000368048
RCV000380643
RCV000377094
RCV000334378
RCV000300878
RCV000370540
RCV000331254
RCV000298241
RCV000365430
RCV000322504
RCV000278733
RCV000402601
RCV000362352
RCV001103628
RCV001106505
RCV001106508
RCV001108692
RCV001108695
RCV001103533
RCV001106616
RCV001106617
RCV001106619
RCV001106715
RCV001108882
RCV001108884
RCV001103725
RCV001103726
RCV001106799
RCV001108779
RCV001108780
Associations from Text MiningDisease 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