MMP13 (matrix metallopeptidase 13)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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.
25
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600108 7159 ENSG00000137745
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Lung cancer Likely pathogenic rs368922836 RCV005925409
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metaphyseal anadysplasia 1, autosomal dominant Likely pathogenic; Pathogenic rs748468302, rs140059558, rs121909498, rs121909499 RCV002271832
RCV004019951
RCV000010051
RCV000010052
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metaphyseal chondrodysplasia, Spahr type Likely pathogenic; Pathogenic rs140059558, rs369083541, rs121909499, rs121909500 RCV000162347
RCV000162348
RCV004795389
RCV000010053
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MMP13-related disorder Likely pathogenic; Pathogenic rs797044754 RCV004528951
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (20)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANEURYSM — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (313)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 10027405, 12673424, 26193700
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26193700
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 27716617
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 17075343
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Hyperplasia Congenital Congenital adrenal hyperplasia Pubtator 24380766 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 20700625
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33892965 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 31081124
★★★★★
★☆☆☆☆
Found in Text Mining only
Aneurysm Aneurysm Pubtator 18971037, 23913860, 26918470 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anodontia Anodontia Pubtator 16868967, 24351915 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only