Gene table of MMP13 : matrix metallopeptidase 13

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MMP13	OMIM link	Number of associated genes	genes
250400	METAPHYSEAL DYSPLASIA, SPAHR TYPE	ClinVar, HUMSAVAR	link to OMIM	1	MMP13
602111	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE	OMIM, HUMSAVAR	link to OMIM	1	MMP13

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Degradation of the extracellular matrix	R-HSA-1474228	6.11
Collagen degradation	R-HSA-1442490	7.03
Activation of Matrix Metalloproteinases	R-HSA-1592389	8.03
Extracellular matrix organization	R-HSA-1474244	4.91
Collagen formation	R-HSA-1474290	6.56
Assembly of collagen fibrils and other multimeric structures	R-HSA-2022090	7.2

Associated GO terms for Molecular function

GO term	GO ID	GO IC
serine-type endopeptidase activity	GO:0004252	4.4
endopeptidase activity	GO:0004175	3.63
calcium-dependent protein binding	GO:0048306	5.68
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
peptidase activity	GO:0008233	3.23
metallopeptidase activity	GO:0008237	4.5
serine-type peptidase activity	GO:0008236	4.27
cation binding	GO:0043169	1.4
transition metal ion binding	GO:0046914	2.48
ion binding	GO:0043167	1.36
calcium ion binding	GO:0005509	3.17
protein complex binding	GO:0032403	3.09
metal ion binding	GO:0046872	1.41
fibronectin binding	GO:0001968	6.41
hydrolase activity	GO:0016787	1.9
metalloendopeptidase activity	GO:0004222	5.02
serine hydrolase activity	GO:0017171	4.26
lipoprotein particle receptor binding	GO:0070325	6.65
catalytic activity	GO:0003824	1.05
low-density lipoprotein particle receptor binding	GO:0050750	6.91
peptidase activity, acting on L-amino acid peptides	GO:0070011	3.26
protein binding	GO:0005515	0.46
receptor binding	GO:0005102	2.43
collagen binding	GO:0005518	5.58
zinc ion binding	GO:0008270	2.66