• Gene id: 4317

Gene Summary

• Gene Symbol: MMP8   Gene   UCSC   Ensembl
• Aliases: CLG1, HNC, MMP-8, PMNL-CL
• Gene name: matrix metallopeptidase 8
• Alternate names: neutrophil collagenase, PMN leukocyte collagenase, PMNL collagenase, collagenase 2, matrix metalloproteinase 8 (neutrophil collagenase), matrix metalloproteinase-8,
• Gene location: 11q22.2 (102724966: 102711795)     Exons: 12     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such
• OMIM: 600045

SNPs

rs11204546

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.247896410T>A
NC_000001.11   g.247896410T>C
NC_000001.11   g.247896410T>G
NC_000001.10   g.248059712T>A
NC_000001.10   g.248059712T>C
NC_000001.10   g.248059712T>G
NG_053132.1   g.5824T>A
NG_053132.1   g.5824T>C
NG_053132.1   g.5824T>G
NM_001001957.2   c

Protein Summary

• Protein general information: P22894  
  • Name: Neutrophil collagenase (EC 3.4.24.34) (Matrix metalloproteinase 8) (MMP 8) (PMNL collagenase) (PMNL CL)
  • Length: 467  
  • Mass: 53412
  • Tissue specificity: Neutrophils.
• Sequence:

  MFSLKTLPFLLLLHVQISKAFPVSSKEKNTKTVQDYLEKFYQLPSNQYQSTRKNGTNVIVEKLKEMQRFFGLNVT
  GKPNEETLDMMKKPRCGVPDSGGFMLTPGNPKWERTNLTYRIRNYTPQLSEAEVERAIKDAFELWSVASPLIFTR
  ISQGEADINIAFYQRDHGDNSPFDGPNGILAHAFQPGQGIGGDAHFDAEETWTNTSANYNLFLVAAHEFGHSLGL
  AHSSDPGALMYPNYAFRETSNYSLPQDDIDGIQAIYGLSSNPIQPTGPSTPKPCDPSLTFDAITTLRGEILFFKD
  RYFWRRHPQLQRVEMNFISLFWPSLPTGIQAAYEDFDRDLIFLFKGNQYWALSGYDILQGYPKDISNYGFPSSVQ
  AIDAAVFYRSKTYFFVNDQFWRYDNQRQFMEPGYPKSISGAFPGIESKVDAVFQQEHFFHVFSGPRYYAFDLIAQ
  RVTRVARGNKWLNCRYG

• Structural information:
  • Interpro: IPR000585  IPR036375  IPR018487  IPR018486  IPR033739   IPR024079  IPR001818  IPR021190  IPR021158  IPR006026  IPR002477  IPR036365  IPR036366  
  • Prosite: PS00546 PS00024 PS51642 PS00142
  • CDD: cd00094 cd04278
  • PDB: 1A85 1A86 1BZS 1I73 1I76 1JAN 1JAO 1JAP 1JAQ 1JH1 1JJ9 1KBC 1MMB 1MNC 1ZP5 1ZS0 1ZVX 2OY2 2OY4 3DNG 3DPE 3DPF 3TT4 4QKZ 5H8X
  • PDBsum: 1A85 1A86 1BZS 1I73 1I76 1JAN 1JAO 1JAP 1JAQ 1JH1 1JJ9 1KBC 1MMB 1MNC 1ZP5 1ZS0 1ZVX 2OY2 2OY4 3DNG 3DPE 3DPF 3TT4 4QKZ 5H8X
  • STRING: ENSP00000236826
• Other Databases: GeneCards:  MMP8  Malacards:  MMP8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004175	endopeptidase activity	IMP	molecular function
GO:1901224	positive regulation of NIK/NF-kappaB signaling	ISS	biological process
GO:1904469	positive regulation of tumor necrosis factor secretion	ISS	biological process
GO:1904469	positive regulation of tumor necrosis factor secretion	ISS	biological process
GO:0150077	regulation of neuroinflammatory response	TAS	biological process
GO:0150078	positive regulation of neuroinflammatory response	ISS	biological process
GO:0150078	positive regulation of neuroinflammatory response	ISS	biological process
GO:0150078	positive regulation of neuroinflammatory response	ISS	biological process
GO:1903980	positive regulation of microglial cell activation	ISS	biological process
GO:0043388	positive regulation of DNA binding	ISS	biological process
GO:1903428	positive regulation of reactive oxygen species biosynthetic process	ISS	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	ISS	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	ISS	biological process
GO:1903978	regulation of microglial cell activation	TAS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0043410	positive regulation of MAPK cascade	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0046330	positive regulation of JNK cascade	ISS	biological process
GO:0032755	positive regulation of interleukin-6 production	ISS	biological process
GO:0032693	negative regulation of interleukin-10 production	ISS	biological process
GO:0004222	metalloendopeptidase activity	IBA	molecular function
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0030574	collagen catabolic process	IBA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0031012	extracellular matrix	IEA	cellular component
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030574	collagen catabolic process	IEA	biological process
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0030574	collagen catabolic process	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0035580	specific granule lumen	TAS	cellular component
GO:1903980	positive regulation of microglial cell activation	IEA	biological process
GO:0150078	positive regulation of neuroinflammatory response	IEA	biological process
GO:0043388	positive regulation of DNA binding	IEA	biological process
GO:0032755	positive regulation of interleukin-6 production	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:1904469	positive regulation of tumor necrosis factor secretion	IEA	biological process
GO:1903428	positive regulation of reactive oxygen species biosynthetic process	IEA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:0046330	positive regulation of JNK cascade	IEA	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:0032693	negative regulation of interleukin-10 production	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0008233	peptidase activity	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0035987	endodermal cell differentiation	IEP	biological process
GO:0008270	zinc ion binding	TAS	molecular function

Diseases

Associated diseases	References
Thoracic aortic aneurysm	PMID:16820601
Breast cancer	PMID:18366705
Breast cancer	PMID:17974962
Ovarian cancer	PMID:14602136
Endometrial carcinoma	PMID:10502722
Carotid artery disease	PMID:16339461
Rheumatoid arthritis	PMID:15194590
Abdominal aortic aneurysm	PMID:16432074
Osteoarthritis	PMID:15194590
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray