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This gene encodes a member of the peptidase M10 family and membrane-type subfamily 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 tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of t... See more...
Aliases for MMP17 Gene
Aliases for MMP17 Gene
External Ids for MMP17 Gene
- HGNC: 7163
- NCBI Entrez Gene: 4326
- Ensembl: ENSG00000198598
- OMIM®: 602285
- UniProtKB/Swiss-Prot: Q9ULZ9
Previous GeneCards Identifiers for MMP17 Gene
- GC12U990053
- GC12P131752
- GC12P132193
- GC12P130807
- GC12P130979
- GC12P130878
- GC12P132312
- GC12P129198
Summaries for MMP17 Gene
-
This gene encodes a member of the peptidase M10 family and membrane-type subfamily 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 tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein is unique among the membrane-type matrix metalloproteinases in that it is anchored to the cell membrane via a glycosylphosphatidylinositol (GPI) anchor. Elevated expression of the encoded protein has been observed in osteoarthritis and multiple human cancers. [provided by RefSeq, Jan 2016]
GeneCards Summary for MMP17 Gene
MMP17 (Matrix Metallopeptidase 17) is a Protein Coding gene. Diseases associated with MMP17 include Arthritis and Spinal Cord Astrocytoma. Among its related pathways are Degradation of the extracellular matrix and Matrix Metalloproteinases. Gene Ontology (GO) annotations related to this gene include calcium ion binding and metallopeptidase activity. An important paralog of this gene is MMP25.
UniProtKB/Swiss-Prot Summary for MMP17 Gene
-
Endopeptidase that degrades various components of the extracellular matrix, such as fibrin. May be involved in the activation of membrane-bound precursors of growth factors or inflammatory mediators, such as tumor necrosis factor-alpha. May also be involved in tumoral process. Cleaves pro-TNF-alpha at the '74-Ala-|-Gln-75' site. Not obvious if able to proteolytically activate progelatinase A. Does not hydrolyze collagen types I, II, III, IV and V, gelatin, fibronectin, laminin, decorin nor alpha1-antitrypsin.
-
Matrix metalloproteases (matrix metalloproteinase, MMPs), also called matrixins, are zinc-dependent endopeptidases and the major proteases in ECM degradation. MMPs are capable of degrading several extracellular molecules and a number of bioactive molecules.
Additional gene information for MMP17 Gene
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MMP17 Gene
Genomics for MMP17 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MMP17 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MMP17 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MMP17
- Top Transcription factor binding sites by QIAGEN in the MMP17 gene promoter:
-
- AP-1
- C/EBPalpha
- CHOP-10
- HSF1short
- RFX1
- Sp1
- Zic1
Genomic Locations for MMP17 Gene
Latest Assembly
- chr12:131,828,393-131,851,783
- (GRCh38/hg38)
- Size:
- 23,391 bases
- Orientation:
- Plus strand
Previous Assembly
- chr12:132,312,938-132,336,316
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 23,379 bases
- Orientation:
- Plus strand
Genomic View for MMP17 Gene
Genes around MMP17 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.33 by HGNC
- 12q24.33 by Entrez Gene
- 12q24.33 by Ensembl
MMP17 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MMP17 Gene
Proteins for MMP17 Gene
-
Protein details for MMP17 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9ULZ9-MMP17_HUMAN
- Recommended name:
- Matrix metalloproteinase-17
- Protein Accession:
- Q9ULZ9
- Q14850
Protein attributes for MMP17 Gene
- Size:
- 603 amino acids
- Molecular mass:
- 66653 Da
- Cofactor:
- Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
- Cofactor:
- Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
- Quaternary structure:
- No Data Available
Protein Expression for MMP17 Gene
Post-translational modifications for MMP17 Gene
- The precursor is cleaved by a furin endopeptidase.
-
Glycosylation at Asn137 and Asn318
- NX_Q9ULZ9 (NX_Q9ULZ9-1)
- Modification sites at PhosphoSitePlus
Other Protein References for MMP17 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences MMP17 Antibody
-
Custom Antibody ServicesOriGene Antibodies for MMP17
- Novus Biologicals Antibodies for MMP17
- Invitrogen Antibodies for MMP17 (AFLGC-MMP17)
Protein products for research
-
OriGene Purified Proteins for MMP17
- Search Origene for MassSpec and Protein Over-expression Lysates for MMP17
- Origene Custom Protein Services for MMP17
- antibodies-online: Show 6 available MMP17 Proteins ranked by validation data
- Compare Top MMP17 Proteins
-
Quality Products:
Assay products for research
- Novus Biologicals ELISA Kits for MMP17
- antibodies-online: Show 27 available MMP17 Elisa Kits ranked by validation data
- Compare Top MMP17 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for MMP17 Gene
Domains & Families for MMP17 Gene
Gene Families for MMP17 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- FDA approved drug targets
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for MMP17 Gene
- InterPro:
- Blocks:
-
- Hemopexin repeat
- Matrixin
- Putative peptidoglycan binding domain 1
Suggested Antigen Peptide Sequences for MMP17 Gene
- GenScript: Design optimal peptide antigens:
-
- Membrane-type-4 matrix metalloproteinase (MMP17_HUMAN)
- MMP17 protein (Q5U5M0_HUMAN)
- MMP17 protein (Q8IWC3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9ULZ9UniProtKB/Swiss-Prot:
MMP17_HUMAN :- The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
- Belongs to the peptidase M10A family.
- Domain:
-
- The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
- Family:
-
- Belongs to the peptidase M10A family.
Function for MMP17 Gene
Molecular function for MMP17 Gene
- UniProtKB/Swiss-Prot Function:
- Endopeptidase that degrades various components of the extracellular matrix, such as fibrin. May be involved in the activation of membrane-bound precursors of growth factors or inflammatory mediators, such as tumor necrosis factor-alpha. May also be involved in tumoral process. Cleaves pro-TNF-alpha at the '74-Ala-|-Gln-75' site. Not obvious if able to proteolytically activate progelatinase A. Does not hydrolyze collagen types I, II, III, IV and V, gelatin, fibronectin, laminin, decorin nor alpha1-antitrypsin.
- GENATLAS Biochemistry:
- membrane type 4-matrix metalloproteinase 17,mainly predominantly expressed in brain and leukocytes,colon,ovary,testis,linked to D12S367,with one minor non expressed transcript and a major alternatively spliced,involved in neurogenesis
Enzyme Numbers (IUBMB) for MMP17 Gene
Phenotypes From GWAS Catalog for MMP17 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004222 | metalloendopeptidase activity | TAS,IBA | 21873635 |
| GO:0008047 | enzyme activator activity | TAS | 8640782 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008237 | metallopeptidase activity | IEA | -- |
| GO:0008270 | zinc ion binding | TAS,IEA | -- |
Phenotypes for MMP17 Gene
- MGI mutant phenotypes for MMP17:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MMP17:
Animal Models for research
-
Taconic Biosciences Mouse Models for MMP17
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MMP17 - Starting at $85 >
- * MMP17 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MMP17
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MMP17
-
Santa Cruz Biotechnology (SCBT) CRISPR for MMP17
miRNA for MMP17 Gene
- miRTarBase miRNAs that target MMP17
-
- mmu-miR-149-5p (MIRT014762)
- mmu-miR-136-5p (MIRT015073)
- hsa-miR-335-5p (MIRT018145)
- hsa-miR-1304-5p (MIRT573509)
- hsa-miR-6734-5p (MIRT573510)
- hsa-miR-1226-5p (MIRT573511)
- hsa-miR-6834-5p (MIRT573512)
- hsa-miR-6738-5p (MIRT573513)
- hsa-miR-4290 (MIRT573514)
- hsa-miR-5194 (MIRT573515)
- hsa-miR-1914-3p (MIRT573516)
- hsa-miR-423-5p (MIRT573517)
- hsa-miR-3184-5p (MIRT573518)
- hsa-miR-6805-5p (MIRT573519)
- hsa-miR-5707 (MIRT573520)
- hsa-miR-4786-5p (MIRT689993)
- hsa-miR-7162-3p (MIRT689994)
- hsa-miR-544b (MIRT689995)
- hsa-miR-6849-3p (MIRT689996)
- hsa-miR-4433a-3p (MIRT689997)
- hsa-miR-4459 (MIRT689998)
- hsa-miR-4768-3p (MIRT689999)
- hsa-miR-6765-3p (MIRT690000)
- hsa-miR-3622b-3p (MIRT690001)
- hsa-miR-3622a-3p (MIRT690002)
- hsa-miR-4728-3p (MIRT690003)
- hsa-miR-4293 (MIRT690004)
- hsa-miR-3135b (MIRT790233)
- hsa-miR-34a-3p (MIRT790298)
- hsa-miR-3652 (MIRT790323)
- hsa-miR-4430 (MIRT790441)
- hsa-miR-4505 (MIRT790502)
- hsa-miR-4633-3p (MIRT790526)
- hsa-miR-4690-3p (MIRT790560)
- hsa-miR-5685 (MIRT790775)
- hsa-miR-5787 (MIRT790794)
- hsa-miR-6500-5p (MIRT790852)
- hsa-miR-6769a-3p (MIRT790939)
- hsa-miR-6842-3p (MIRT791014)
- hsa-miR-6874-5p (MIRT791069)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MMP17
- Browse OriGene Inhibitory RNA Products For MMP17
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMP17
Clone products for research
- Applied Biological Materials (abm): Clones for MMP17 - Starting at $45 >
- * MMP17 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MMP17
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MMP17
Cell Lines for research
-
Horizon Cell Lines for MMP17
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MMP17 Gene
Localization for MMP17 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MMP17 Gene
- [Isoform Long]: Cell membrane. Lipid-anchor, GPI-anchor. Extracellular side. Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 3 |
| cytoskeleton | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0031012 | extracellular matrix | IEA | -- |
| GO:0031225 | anchored component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MMP17 Gene
Pathways & Interactions for MMP17 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Matrix Metalloproteinases |
Inhibition of Matrix Metalloproteinases
.69
|
|
| 2 | Degradation of the extracellular matrix | ||
| 3 | Parathyroid hormone synthesis, secretion and action | ||
Pathways by source for MMP17 Gene
1 BioSystems pathway for MMP17 Gene
3 Reactome pathways for MMP17 Gene
1 KEGG pathway for MMP17 Gene
1 Qiagen pathway for MMP17 Gene
- Inhibition of Matrix Metalloproteinases
1 GeneTex pathway for MMP17 Gene
Interacting Proteins for MMP17 Gene
GPS-Prot Interaction Network for MMP17
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | TAS | 14645246 |
| GO:0030198 | extracellular matrix organization | IBA | 21873635 |
| GO:0030574 | collagen catabolic process | IBA | 21873635 |
| GO:0050790 | regulation of catalytic activity | IEA | -- |
No data available for SIGNOR curated interactions for MMP17 Gene
Drugs & Compounds for MMP17 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Marimastat | Investigational | Pharma | Target, inhibitor | MMPs inhibitor,board spectrum | 4 | |
| Calcium | Nutra | 6959 | ||||
| ARP 100 | Pharma | Selective MMP-2 inhibitor, Selective inhibitor of MMP-2 | 0 | |||
| ARP 101 | Pharma | MMP inhibitor,potent and selective, Inhibitor of MMP-2 | 0 | |||
| PD 166793 | Pharma | MMP inhibitor, Broad spectrum MMP inhibitor | 0 |
(3) Tocris Compounds for MMP17 Gene
Transcripts for MMP17 Gene
mRNA/cDNA for MMP17 Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000360564 2411 nts (view in UCSC)
- ENST00000534865 1510 nts (view in UCSC)
- ENST00000535004 1870 nts (view in UCSC)
- ENST00000535291 2301 nts (view in UCSC)
- ENST00000537848 711 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MMP17 - Starting at $85 >
- * MMP17 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MMP17
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MMP17
-
Santa Cruz Biotechnology (SCBT) CRISPR for MMP17
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MMP17
- Browse OriGene Inhibitory RNA Products For MMP17
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMP17
Clone products for research
- Applied Biological Materials (abm): Clones for MMP17 - Starting at $45 >
- * MMP17 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MMP17
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MMP17
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||||||||||
| SP6: |
Relevant External Links for MMP17 Gene
- GeneLoc Exon Structure for
- MMP17
Expression for MMP17 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for MMP17 Gene
This gene is overexpressed in Brain - Cortex (x4.8) and Brain - Hippocampus (x4.3).
This gene is overexpressed in Cerebrospinal fluid (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MMP17 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MMP17
SOURCE GeneReport for Unigene cluster for MMP17 Gene:
Hs.709245mRNA Expression by UniProt/SwissProt for MMP17 Gene:
Q9ULZ9-MMP17_HUMAN
Tissue specificity:
Expressed in brain, leukocytes, colon, ovary testis and breast cancer. Expressed also in many transformed and non-transformed cell types.
Primer products for research
-
OriGene qPCR primer pairs for MMP17
-
OriGene qPCR primer pairs and template standards for MMP17
Gene Expression Assays for research
No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MMP17 Gene
Orthologs for MMP17 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MMP17 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MMP17 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MMP17 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Mmp17 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mmp17 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | MMP17 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MMP17 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MMP17 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mmp17 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | mmp17a 29 30 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011870 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Mmp2 29 31 |
|
||
| Mmp1 31 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | zmp-1 29 |
|
||
| C31B8.8 31 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for MMP17 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for MMP17 Gene
- ENSEMBL:
- Gene Tree for MMP17 (if available)
- TreeFam:
- Gene Tree for MMP17 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MMP17: view image
- Alliance of Genome Resources:
- Additional Orthologs for MMP17
Paralogs for MMP17 Gene
Paralogs for MMP17 Gene
(18) SIMAP similar genes for MMP17 Gene using alignment to 9 proteins:
- MMP17_HUMAN
- F5GWR3_HUMAN
- F5GZA7_HUMAN
- F5H209_HUMAN
- F5H249_HUMAN
- F5H846_HUMAN
- F5H881_HUMAN
- Q5U5M0_HUMAN
- Q8IWC3_HUMAN
Variants for MMP17 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MMP17 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs139162290 | Benign: not provided | 131,849,915(+) |
A/G NM_016155.7(MMP17):c.1318A>G (p.Asn440Asp) |
MISSENSE | |
| rs143543400 | Likely Benign: not provided | 131,838,267(+) |
C/A NM_016155.7(MMP17):c.232C>A (p.Leu78Met) |
MISSENSE | |
| rs145755207 | Benign: not provided | 131,840,747(+) |
C/A NM_016155.7(MMP17):c.597C>A (p.Pro199=) |
SYNONYMOUS | |
| rs74716970 | Benign: not provided | 131,841,661(+) |
C/T NM_016155.7(MMP17):c.744C>T (p.His248=) |
SYNONYMOUS | |
| rs76305475 | Benign: not provided | 131,841,736(+) |
G/A NM_016155.7(MMP17):c.819G>A (p.Pro273=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2746901 | CNV | deletion | 23290073 |
| esv2746902 | CNV | deletion | 23290073 |
| esv2751042 | CNV | gain | 17911159 |
| esv3631278 | CNV | loss | 21293372 |
| nsv1052544 | CNV | gain | 25217958 |
| nsv1070152 | CNV | deletion | 25765185 |
| nsv1071075 | CNV | deletion | 25765185 |
| nsv1143716 | CNV | deletion | 24896259 |
| nsv455803 | CNV | gain | 19166990 |
| nsv455804 | CNV | loss | 19166990 |
| nsv560927 | CNV | gain | 21841781 |
| nsv560928 | CNV | gain | 21841781 |
| nsv560929 | CNV | loss | 21841781 |
| nsv560930 | CNV | loss | 21841781 |
| nsv560931 | CNV | loss | 21841781 |
| nsv560932 | CNV | loss | 21841781 |
| nsv826561 | CNV | gain | 20364138 |
| nsv832555 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
53.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.50;
88.79% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MMP17 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMP17 Gene
Disorders for MMP17 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| arthritis |
|
|
| spinal cord astrocytoma |
|
|
Search MMP17 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for MMP17
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for MMP17 Gene
Publications for MMP17 Gene
- Human membrane type-4 matrix metalloproteinase (MT4-MMP) is encoded by a novel major transcript: isolation of complementary DNA clones for human and mouse mt4-mmp transcripts. (PMID: 10471807) Kajita M … Seiki M (FEBS letters 1999) 3 4 22
- Membrane type 4 matrix metalloproteinase (MT4-MMP, MMP-17) is a glycosylphosphatidylinositol-anchored proteinase. (PMID: 10567400) Itoh Y … Seiki M (The Journal of biological chemistry 1999) 3 4 22
- Localization of the human membrane type 4-matrix metalloproteinase gene (MMP17) to chromosome 12q24. (PMID: 9878265) Puente XS … López-Otín C (Genomics 1998) 2 3 22
- Molecular cloning of a novel membrane-type matrix metalloproteinase from a human breast carcinoma. (PMID: 8640782) Puente XS … López-Otín C (Cancer research 1996) 3 4 22
- Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection. (PMID: 20587546) Nalpas B … Abel L (Gut 2010) 3 40
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Products for MMP17 Gene
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Sources for MMP17 Gene
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