MMP28
gene geneOn this page
Also known as MMP-25MM28EPILYSINMMP-28
Summary
MMP28 (matrix metallopeptidase 28, HGNC:14366) is a protein-coding gene on chromosome 17q12, encoding Matrix metalloproteinase-28 (Q9H239). Can degrade casein.
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 79148 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 29 total
- MANE Select transcript:
NM_024302
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14366 |
| Approved symbol | MMP28 |
| Name | matrix metallopeptidase 28 |
| Location | 17q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MMP-25, MM28, EPILYSIN, MMP-28 |
| Ensembl gene | ENSG00000271447 |
| Ensembl biotype | protein_coding |
| OMIM | 608417 |
| Entrez | 79148 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 17 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000605424, ENST00000612292, ENST00000612672, ENST00000615136, ENST00000615317, ENST00000616383, ENST00000619655, ENST00000863250, ENST00000863251, ENST00000863252, ENST00000863253, ENST00000863254, ENST00000863255, ENST00000863256, ENST00000959303, ENST00000959304, ENST00000959305, ENST00000959306, ENST00000959307
RefSeq mRNA: 3 — MANE Select: NM_024302
NM_001032278, NM_024302, NM_032950
CCDS: CCDS45651, CCDS74036, CCDS76996
Canonical transcript exons
ENST00000605424 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003498482 | 35778888 | 35779075 |
| ENSE00003556183 | 35770067 | 35770312 |
| ENSE00003602726 | 35767752 | 35767919 |
| ENSE00003644063 | 35773180 | 35773404 |
| ENSE00003657110 | 35768230 | 35768379 |
| ENSE00003674701 | 35779244 | 35779323 |
| ENSE00003726135 | 35795267 | 35795641 |
| ENSE00003746791 | 35765865 | 35766894 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 95.80.
FANTOM5 (CAGE): breadth broad, TPM avg 2.1501 / max 86.6053, expressed in 439 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 165388 | 2.1501 | 439 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibial nerve | UBERON:0001323 | 95.80 | gold quality |
| right testis | UBERON:0004534 | 93.47 | gold quality |
| left testis | UBERON:0004533 | 92.82 | gold quality |
| testis | UBERON:0000473 | 92.47 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.05 | gold quality |
| zone of skin | UBERON:0000014 | 91.02 | gold quality |
| transverse colon | UBERON:0001157 | 90.92 | gold quality |
| right lung | UBERON:0002167 | 90.82 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 90.72 | gold quality |
| rectum | UBERON:0001052 | 90.69 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.55 | gold quality |
| lower esophagus | UBERON:0013473 | 90.52 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.51 | gold quality |
| skin of leg | UBERON:0001511 | 90.18 | gold quality |
| nucleus accumbens | UBERON:0001882 | 90.07 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 89.57 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 89.16 | gold quality |
| amygdala | UBERON:0001876 | 89.11 | gold quality |
| temporal lobe | UBERON:0001871 | 89.04 | gold quality |
| colon | UBERON:0001155 | 88.99 | gold quality |
| esophagus | UBERON:0001043 | 88.87 | gold quality |
| putamen | UBERON:0001874 | 88.73 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 88.58 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 88.21 | gold quality |
| adipose tissue | UBERON:0001013 | 88.14 | gold quality |
| omental fat pad | UBERON:0010414 | 88.11 | gold quality |
| caudate nucleus | UBERON:0001873 | 87.74 | gold quality |
| esophagus mucosa | UBERON:0002469 | 87.59 | gold quality |
| lung | UBERON:0002048 | 87.54 | gold quality |
| intestine | UBERON:0000160 | 87.51 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9388 | yes | 11.41 |
| E-ANND-3 | yes | 11.26 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CREB1, HDAC1, SP1, SP3
miRNA regulators (miRDB)
26 targeting MMP28, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-491-5P | 99.13 | 65.98 | 1468 |
| HSA-MIR-7854-3P | 99.08 | 66.26 | 1117 |
| HSA-MIR-6830-5P | 99.01 | 68.73 | 1884 |
| HSA-MIR-6728-3P | 98.63 | 67.63 | 1534 |
| HSA-MIR-3188 | 98.58 | 65.60 | 878 |
| HSA-MIR-561-5P | 98.25 | 68.13 | 1365 |
| HSA-MIR-4303 | 98.01 | 68.13 | 2304 |
| HSA-MIR-1913 | 97.07 | 66.20 | 1417 |
| HSA-MIR-6729-3P | 96.91 | 66.79 | 703 |
| HSA-MIR-617 | 96.79 | 65.96 | 738 |
| HSA-MIR-431-5P | 96.16 | 66.50 | 652 |
Literature-anchored findings (GeneRIF, showing 22)
- Epilysin (MMP-28) expression is associated with cell proliferation during epithelial repair. (PMID:12164918)
- Results suggest inhibition of MMP-28 may be beneficial under conditions of dysmyelination. (PMID:18778487)
- Data demonstrate that expression of MMP28 alters keratinocyte phenotype towards a more adhesive, less migratory behaviour. (PMID:19375502)
- Epilysin (MMP-28) is deposited to the basolateral extracellular matrix of epithelial cells. (PMID:19379669)
- Expression of MMP-21 and MMP-28 seems to associate with the Merkel cell carcinoma of lesser malignant potential. (PMID:19921252)
- Findings presented here show the first documentation of intervertebral disc expression and production of MMP28 (PMID:20003223)
- MMP28 gene expression is regulated by Sp1 transcription factor acetylation. (PMID:20144149)
- MMP28 is frequently overexpressed during progression of gastric carcinoma, and contributes to tumor cell invasion and metastasis. (PMID:21615884)
- basal expression of MMP-2, MMP-9, MMP-28, and Filaggrin was evaluated in oral keratinocytes to collect information about ability of cigarette smoke to modify basal expression pattern of these key enzymes in the absence of clinical signs in oral epithelium (PMID:21723775)
- Gene expression of MMP28 in the intervertebral disk is not regulated by inflammatory mechanisms, is donor-dependent and cannot be positively or negatively linked to the grade of degeneration and only weakly to the occurrence of trauma. (PMID:21801383)
- Over-expression of MMP28 provides protection against apoptosis induced by either serum-deprivation or treatment with a protein kinase inhibitor. (PMID:22040290)
- Data established a seven-gene (AR, ESR2, GATA3, GBX2, KRT16, MMP28 and WNT11) prognostic signature to define a subset of triple-negative breast cancer (TNBC). (PMID:23549873)
- Inhibition of BCMO1 expression is associated with increased invasiveness of colon cancer cells and increased expression of MMP7 and MMP28. beta-Carotene can upregulate BCMO1 and reverse these effects. (PMID:23803888)
- MMP28 mRNA expression is highest in healthy tissues when compared to diseased periodontal tissues. (PMID:24167355)
- A decreased level of IL-33 and an elevated concentration of MMP-28 were found in coronary heart disease patients and correlated with disease severity. (PMID:24710352)
- These results proved for the first time that epilysin expression was significantly elevated in glioblastoma (PMID:25429835)
- Results suggest a crucial role of MMP9 at the early stage of carcinogenesis in the large intestine. The increase in MMP9 and TIMP1 mRNA concentration and the decrease in MMP28 in the large intestinal tissue may be a confirmation of cancer. (PMID:28293015)
- MMP28 is upregulated in epithelial cells from Idiopathic pulmonary fibrosis lungs. (PMID:29373068)
- Circulating MMP-28 was elevated in atrial fibrillation (PMID:29729262)
- Real-time PCR and dual-luciferase assay indicated that KLF9 directly inhibited MMP28 transcription. Decreased invasion and metastasis capability of GC cells caused by ectopic KLF9 expression could be rescued via reinforcing MMP28 expression in vivo. Collectively, our study indicates that KLF9 significantly suppresses GC cell invasion and metastasis through inhibiting MMP28 transcription. (PMID:30913394)
- Increased bronchoalveolar lavage fluid MMP28 concentrations were associated with increased % percentage alveolar neutrophils and total protein concentrations (PMID:32268921)
- Expression and Clinical Significance of MMP-28 in Bladder Cancer. (PMID:33191847)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mmp28 | ENSDARG00000059029 |
| mus_musculus | Mmp28 | ENSMUSG00000020682 |
| rattus_norvegicus | Mmp28 | ENSRNOG00000047940 |
| caenorhabditis_elegans | WBGENE00010524 | |
| caenorhabditis_elegans | WBGENE00012185 | |
| caenorhabditis_elegans | WBGENE00012364 | |
| caenorhabditis_elegans | WBGENE00016283 | |
| caenorhabditis_elegans | WBGENE00194737 |
Paralogs (23): MMP25 (ENSG00000008516), MMP2 (ENSG00000087245), MMP11 (ENSG00000099953), MMP9 (ENSG00000100985), MMP15 (ENSG00000102996), HPX (ENSG00000110169), MMP8 (ENSG00000118113), MMP19 (ENSG00000123342), MMP24 (ENSG00000125966), MMP7 (ENSG00000137673), MMP20 (ENSG00000137674), MMP27 (ENSG00000137675), MMP13 (ENSG00000137745), MMP3 (ENSG00000149968), MMP21 (ENSG00000154485), MMP16 (ENSG00000156103), MMP14 (ENSG00000157227), MMP10 (ENSG00000166670), MMP26 (ENSG00000167346), MMP23B (ENSG00000189409), MMP1 (ENSG00000196611), MMP17 (ENSG00000198598), MMP12 (ENSG00000262406)
Protein
Protein identifiers
Matrix metalloproteinase-28 — Q9H239 (reviewed: Q9H239)
Alternative names: Epilysin
All UniProt accessions (5): A0A087WZ56, A0A087X1Y9, B3KV06, C0H5X0, Q9H239
UniProt curated annotations — full annotation on UniProt →
Function. Can degrade casein. Could play a role in tissues homeostasis and repair.
Subcellular location. Secreted. Extracellular space. Extracellular matrix.
Tissue specificity. Expressed at high levels in testes and lung. Low levels are detected in kidney, pancreas and skin. Also expressed in fetal lung, brain, skeletal muscle and kidney. Expressed selectively in keratinocytes. Widely expressed in several carcinomas as well. Is up-regulated in response to injury in the skin.
Post-translational modifications. The precursor is cleaved by a furin endopeptidase.
Cofactor. Binds 1 zinc ion per subunit.
Domain organisation. 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.
Similarity. Belongs to the peptidase M10A family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H239-1 | 1 | yes |
| Q9H239-2 | 2 |
RefSeq proteins (3): NP_001027449, NP_077278, NP_116568 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000585 | Hemopexin-like_dom | Domain |
| IPR001818 | Pept_M10_metallopeptidase | Domain |
| IPR002477 | Peptidoglycan-bd-like | Domain |
| IPR006026 | Peptidase_Metallo | Domain |
| IPR018487 | Hemopexin-like_repeat | Repeat |
| IPR021190 | Pept_M10A | Family |
| IPR024079 | MetalloPept_cat_dom_sf | Homologous_superfamily |
| IPR033739 | M10A_MMP | Domain |
| IPR036365 | PGBD-like_sf | Homologous_superfamily |
| IPR036375 | Hemopexin-like_dom_sf | Homologous_superfamily |
Pfam: PF00045, PF00413, PF01471
UniProt features (19 total): binding site 4, repeat 4, glycosylation site 2, splice variant 2, signal peptide 1, propeptide 1, disulfide bond 1, sequence conflict 1, chain 1, short sequence motif 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H239-F1 | 81.35 | 0.53 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 241
Ligand- & substrate-binding residues (4): 240; 244; 250; 91 (in inhibited form)
Disulfide bonds (1): 324–510
Glycosylation sites (2): 164, 355
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 106 (showing top):
GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOMF_METALLOPEPTIDASE_ACTIVITY, JAEGER_METASTASIS_DN, SABATES_COLORECTAL_ADENOMA_SIZE_DN, GGGTGGRR_PAX4_03, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION, GOBP_TAXIS, GOBP_LEUKOCYTE_MIGRATION, RICKMAN_METASTASIS_DN, GOBP_REGULATION_OF_MACROPHAGE_CHEMOTAXIS, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_NEGATIVE_REGULATION_OF_CHEMOTAXIS
GO Biological Process (4): proteolysis (GO:0006508), negative regulation of macrophage chemotaxis (GO:0010760), extracellular matrix organization (GO:0030198), collagen catabolic process (GO:0030574)
GO Molecular Function (7): metalloendopeptidase activity (GO:0004222), zinc ion binding (GO:0008270), protein binding (GO:0005515), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), extracellular matrix (GO:0031012), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein metabolic process | 1 |
| negative regulation of leukocyte chemotaxis | 1 |
| regulation of macrophage chemotaxis | 1 |
| macrophage chemotaxis | 1 |
| negative regulation of macrophage migration | 1 |
| extracellular structure organization | 1 |
| external encapsulating structure organization | 1 |
| catabolic process | 1 |
| collagen metabolic process | 1 |
| endopeptidase activity | 1 |
| metallopeptidase activity | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| external encapsulating structure | 1 |
Protein interactions and networks
STRING
716 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MMP28 | HPX | P02790 | 855 |
| MMP28 | FURIN | P09958 | 745 |
| MMP28 | TIMP1 | P01033 | 532 |
| MMP28 | MMP8 | P22894 | 525 |
| MMP28 | TIMP4 | Q99727 | 511 |
| MMP28 | TIMP2 | P16035 | 506 |
| MMP28 | TIMP3 | P35625 | 497 |
| MMP28 | ANKRD22 | Q5VYY1 | 422 |
| MMP28 | PGK1 | P00558 | 411 |
| MMP28 | ADAM8 | P78325 | 410 |
| MMP28 | ADAM19 | Q9H013 | 403 |
| MMP28 | HEATR9 | A2RTY3 | 395 |
| MMP28 | H2AX | P16104 | 376 |
| MMP28 | HIPK2 | Q9H2X6 | 375 |
| MMP28 | PTBP1 | P26599 | 374 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MMP28 | FURIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| MMP28 | FURIN | psi-mi:“MI:0403”(colocalization) | 0.560 |
| MMP28 | TRIM68 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MMP28 | TRIM68 | psi-mi:“MI:0914”(association) | 0.560 |
| MMP28 | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MMP28 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (12): SND1 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), MMP28 (Two-hybrid), MMP28 (Proximity Label-MS), SND1 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), NDUFAF1 (Affinity Capture-MS), ITPA (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), TANGO6 (Affinity Capture-MS), MMP28 (Affinity Capture-MS)
ESM2 similar proteins: A2RUV9, A5A6K7, O54732, O54858, P04836, P09958, P14616, P14617, P15087, P15169, P16870, P23188, P23377, P29122, P42787, P50281, P51511, P52176, P53690, P58215, Q00493, Q28193, Q2KJ83, Q3U435, Q499S5, Q4R4M3, Q5RES1, Q63415, Q64716, Q66K79, Q8BGQ4, Q8MJ24, Q8N436, Q8QGP3, Q8R4V4, Q924C6, Q95220, Q96JB6, Q96SM3, Q99PW6
Diamond homologs: A4KX75, D0EM77, G5EBU3, O04529, O18733, O18767, O18927, O23507, O55123, O55761, O60882, O62806, O77656, P03956, P03957, P07152, P08253, P08254, P09237, P09238, P13943, P14780, P21692, P22757, P23097, P28862, P28863, P29136, P33434, P33435, P33436, P34960, P39900, P41245, P41246, P45452, P50280, P50281, P50282, P50757
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MMP28 | up-regulates | ECM_disassembly | |
| MMP28 | down-regulates | ECM |
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1927 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:35766782:C:CT | acceptor_gain | 1.0000 |
| 17:35766783:A:T | acceptor_gain | 1.0000 |
| 17:35770061:CCTCA:C | donor_loss | 1.0000 |
| 17:35770062:CTCA:C | donor_loss | 1.0000 |
| 17:35770063:TCACC:T | donor_loss | 1.0000 |
| 17:35770065:ACC:A | donor_loss | 1.0000 |
| 17:35770071:CAGG:C | donor_gain | 1.0000 |
| 17:35773145:T:TA | donor_gain | 1.0000 |
| 17:35778885:CA:C | donor_loss | 1.0000 |
| 17:35778887:C:CG | donor_loss | 1.0000 |
| 17:35778887:CCTTG:C | donor_gain | 1.0000 |
| 17:35778910:ACG:A | donor_gain | 1.0000 |
| 17:35778911:CGC:C | donor_gain | 1.0000 |
| 17:35779072:CGCT:C | acceptor_gain | 1.0000 |
| 17:35779073:GCTC:G | acceptor_loss | 1.0000 |
| 17:35779074:CT:C | acceptor_gain | 1.0000 |
| 17:35779076:C:CC | acceptor_gain | 1.0000 |
| 17:35779077:T:A | acceptor_loss | 1.0000 |
| 17:35779239:CCTA:C | donor_loss | 1.0000 |
| 17:35779240:CTA:C | donor_loss | 1.0000 |
| 17:35779243:CCTGA:C | donor_loss | 1.0000 |
| 17:35779321:TGC:T | acceptor_gain | 1.0000 |
| 17:35779321:TGCC:T | acceptor_loss | 1.0000 |
| 17:35779324:C:CC | acceptor_gain | 1.0000 |
| 17:35779325:T:G | acceptor_loss | 1.0000 |
| 17:35764004:CA:C | acceptor_loss | 0.9900 |
| 17:35764005:A:AG | acceptor_gain | 0.9900 |
| 17:35764006:G:GG | acceptor_gain | 0.9900 |
| 17:35764006:GGT:G | acceptor_gain | 0.9900 |
| 17:35764006:GGTGT:G | acceptor_gain | 0.9900 |
AlphaMissense
3351 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:35770245:C:A | W224C | 0.998 |
| 17:35770245:C:G | W224C | 0.998 |
| 17:35770290:G:C | F209L | 0.998 |
| 17:35770290:G:T | F209L | 0.998 |
| 17:35770292:A:G | F209L | 0.998 |
| 17:35773190:A:C | F198L | 0.998 |
| 17:35773190:A:T | F198L | 0.998 |
| 17:35773192:A:G | F198L | 0.998 |
| 17:35770264:A:G | F218S | 0.997 |
| 17:35770247:A:G | W224R | 0.996 |
| 17:35770247:A:T | W224R | 0.996 |
| 17:35773191:A:C | F198C | 0.996 |
| 17:35773229:G:C | F185L | 0.996 |
| 17:35773229:G:T | F185L | 0.996 |
| 17:35773231:A:G | F185L | 0.996 |
| 17:35773300:A:G | W162R | 0.996 |
| 17:35773300:A:T | W162R | 0.996 |
| 17:35770199:G:C | H240D | 0.995 |
| 17:35773298:C:A | W162C | 0.995 |
| 17:35773298:C:G | W162C | 0.995 |
| 17:35770185:G:C | H244Q | 0.994 |
| 17:35770185:G:T | H244Q | 0.994 |
| 17:35770194:C:A | E241D | 0.994 |
| 17:35770194:C:G | E241D | 0.994 |
| 17:35770195:T:A | E241V | 0.994 |
| 17:35770266:G:C | H217Q | 0.994 |
| 17:35770266:G:T | H217Q | 0.994 |
| 17:35770296:G:C | H207Q | 0.994 |
| 17:35770296:G:T | H207Q | 0.994 |
| 17:35770298:G:C | H207D | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000026322 (17:35770282 C>A,G,T), RS1000041298 (17:35785733 C>T), RS1000231544 (17:35768768 C>A), RS1000355399 (17:35782263 G>C), RS1000431161 (17:35782655 A>T), RS1000582005 (17:35768497 G>A), RS1000693606 (17:35780637 C>T), RS1000835952 (17:35755938 A>G), RS1000971030 (17:35766999 A>T), RS1001016079 (17:35773175 A>T), RS1001349388 (17:35771601 A>G), RS1001371601 (17:35779616 G>A), RS1001401751 (17:35772159 A>G), RS1001456651 (17:35794281 T>C,G), RS1001559717 (17:35794714 C>A)
Disease associations
OMIM: gene MIM:608417 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007001_12 | Cerebrospinal AB1-42 levels in normal cognition | 4.000000e-07 |
| GCST90002385_413 | High light scatter reticulocyte count | 3.000000e-09 |
| GCST90002386_185 | High light scatter reticulocyte percentage of red cells | 1.000000e-09 |
| GCST90002406_460 | Reticulocyte fraction of red cells | 1.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004670 | beta-amyloid 1-42 measurement |
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — M10: Matrix metallopeptidase
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Arsenic Trioxide | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| lead acetate | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cupric chloride | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Amphotericin B | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Latex | increases expression | 1 |
| Naphthoquinones | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Triclosan | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Simvastatin | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.