EPPK1
gene geneOn this page
Also known as EPIPL1
Summary
EPPK1 (epiplakin 1, HGNC:15577) is a protein-coding gene on chromosome 8q24.3, encoding Epiplakin (P58107). Cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to stress.
The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing.
Source: NCBI Gene 83481 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 594 total
- MANE Select transcript:
NM_031308
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15577 |
| Approved symbol | EPPK1 |
| Name | epiplakin 1 |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EPIPL1 |
| Ensembl gene | ENSG00000261150 |
| Ensembl biotype | protein_coding |
| OMIM | 607553 |
| Entrez | 83481 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000568225, ENST00000615648
RefSeq mRNA: 1 — MANE Select: NM_031308
NM_031308
CCDS: CCDS75800
Canonical transcript exons
ENST00000615648 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003714145 | 143857324 | 143873298 |
| ENSE00003746135 | 143878438 | 143878467 |
Expression profiles
Bgee: expression breadth ubiquitous, 190 present calls, max score 99.04.
FANTOM5 (CAGE): breadth broad, TPM avg 6.0841 / max 285.7633, expressed in 618 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 95547 | 6.0841 | 618 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skin of hip | UBERON:0001554 | 99.04 | gold quality |
| upper leg skin | UBERON:0004262 | 98.53 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.36 | gold quality |
| gingiva | UBERON:0001828 | 97.27 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 97.11 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.23 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 96.10 | gold quality |
| nipple | UBERON:0002030 | 95.38 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.66 | gold quality |
| bronchial epithelial cell | CL:0002328 | 91.99 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 91.34 | gold quality |
| mammary duct | UBERON:0001765 | 90.71 | gold quality |
| colonic mucosa | UBERON:0000317 | 90.36 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 89.94 | gold quality |
| jejunal mucosa | UBERON:0000399 | 89.01 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 88.46 | gold quality |
| bronchus | UBERON:0002185 | 88.05 | gold quality |
| parotid gland | UBERON:0001831 | 87.98 | gold quality |
| mammalian vulva | UBERON:0000997 | 87.88 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 87.71 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 87.08 | gold quality |
| ileal mucosa | UBERON:0000331 | 85.86 | silver quality |
| upper arm skin | UBERON:0004263 | 85.80 | gold quality |
| saphenous vein | UBERON:0007318 | 84.64 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 83.41 | gold quality |
| penis | UBERON:0000989 | 82.91 | gold quality |
| seminal vesicle | UBERON:0000998 | 82.72 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 81.22 | gold quality |
| squamous epithelium | UBERON:0006914 | 80.93 | gold quality |
| zone of skin | UBERON:0000014 | 80.85 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75367 | yes | 53.78 |
| E-ANND-3 | yes | 10.05 |
| E-MTAB-9801 | yes | 8.54 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
48 targeting EPPK1, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-10395-5P | 99.86 | 67.35 | 676 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-425-5P | 99.59 | 67.67 | 900 |
| HSA-MIR-549A-3P | 99.54 | 68.17 | 825 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
Literature-anchored findings (GeneRIF, showing 2)
- Epiplakin may be a cytolinker involved in maintaining the integrity of intermediate filaments networks in simple epithelial cells. (PMID:15671067)
- KLF5-mediated Eppk1 expression promotes cell proliferation in cervical cancer via the p38 signaling pathway. (PMID:33827480)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Eppk1 | ENSMUSG00000118671 |
| rattus_norvegicus | Eppk1 | ENSRNOG00000068431 |
Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), GAS2L3 (ENSG00000139354), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), GAS2L2 (ENSG00000270765)
Protein
Protein identifiers
Epiplakin — P58107 (reviewed: P58107)
Alternative names: 450 kDa epidermal antigen
All UniProt accessions (2): A0A075B730, P58107
UniProt curated annotations — full annotation on UniProt →
Function. Cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to stress. In response to mechanical stress like wound healing, is associated with the machinery for cellular motility by slowing down keratinocyte migration and proliferation and accelerating keratin bundling in proliferating keratinocytes thus contributing to tissue architecture. However in wound healing in corneal epithelium also positively regulates cell differentiation and proliferation and negatively regulates migration thereby controlling corneal epithelium morphogenesis and integrity. In response to cellular stress, plays a role in keratin filament reorganization, probably by protecting keratin filaments against disruption. During liver and pancreas injuries, plays a protective role by chaperoning disease-induced intermediate filament reorganization.
Subunit / interactions. Interacts with KRT5, KRT14 and KRT5/KRT14 heterotetramer; interacts preferentially with assembled filaments rather than keratin monomers. Interacts with KRT8 and KRT18 and KRT8/KRT18 heterotetramer; interacts preferentially with assembled filaments rather than keratin monomers. Interacts with KRT1, VIM and DES; interaction is stronger with KRT1 than with VIM or DES; interaction is dependent of higher-order structure of intermediate filament.
Subcellular location. Cytoplasm. Cytoskeleton. Cell junction. Hemidesmosome. Tight junction. Cell projection. Apicolateral cell membrane. Basolateral cell membrane.
Tissue specificity. Expressed in epithelial cells of liver, small intestine, colon, salivary glands, stomach and appendix.
Domain organisation. Plectin repeats are important for the binding to keratin and VIM and controls intermediate filament networks organization.
Induction. Up-regulated upon calcium-mediated keratinocyte differentiation.
Similarity. Belongs to the plakin or cytolinker family.
RefSeq proteins (1): NP_112598* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001101 | Plectin_repeat | Repeat |
| IPR035915 | Plakin_repeat_sf | Homologous_superfamily |
| IPR043197 | Plakin | Family |
Pfam: PF00681
UniProt features (139 total): repeat 65, sequence conflict 36, modified residue 17, region of interest 9, compositionally biased region 8, coiled-coil region 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for P58107 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (17): 4645, 4850, 34, 1543, 2422, 2508, 2718, 2958, 3044, 3249, 3489, 3575, 3783, 4023, 4109, 4317, 4557
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 161 (showing top):
GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, JAEGER_METASTASIS_DN, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, PEREZ_TP63_TARGETS, GOBP_KERATINOCYTE_PROLIFERATION, GOBP_REGULATION_OF_EPITHELIAL_CELL_MIGRATION, GOBP_GROWTH, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOBP_REGENERATION, NAGASHIMA_NRG1_SIGNALING_UP
GO Biological Process (10): negative regulation of keratinocyte proliferation (GO:0010839), negative regulation of cell migration (GO:0030336), wound healing (GO:0042060), intermediate filament organization (GO:0045109), intermediate filament bundle assembly (GO:0045110), negative regulation of epithelial cell proliferation (GO:0050680), negative regulation of keratinocyte migration (GO:0051548), negative regulation of wound healing (GO:0061045), regulation of epithelium regeneration (GO:1905041), intermediate filament cytoskeleton organization (GO:0045104)
GO Molecular Function (4): RNA binding (GO:0003723), structural molecule activity (GO:0005198), intermediate filament binding (GO:0019215), keratin filament binding (GO:1990254)
GO Cellular Component (17): cytoplasm (GO:0005737), cytoskeleton (GO:0005856), bicellular tight junction (GO:0005923), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), apicolateral plasma membrane (GO:0016327), cell junction (GO:0030054), hemidesmosome (GO:0030056), cell projection (GO:0042995), keratin filament (GO:0045095), intermediate filament cytoskeleton (GO:0045111), cell periphery (GO:0071944), perinucleolar compartment (GO:0097356), intermediate filament (GO:0005882), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 6 |
| plasma membrane region | 2 |
| regulation of keratinocyte proliferation | 1 |
| keratinocyte proliferation | 1 |
| negative regulation of epithelial cell proliferation | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| negative regulation of cell motility | 1 |
| response to wounding | 1 |
| tissue regeneration | 1 |
| intermediate filament cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| cellular component assembly | 1 |
| intermediate filament organization | 1 |
| negative regulation of cell population proliferation | 1 |
| epithelial cell proliferation | 1 |
| regulation of epithelial cell proliferation | 1 |
| negative regulation of epithelial cell migration | 1 |
| keratinocyte migration | 1 |
| regulation of keratinocyte migration | 1 |
| negative regulation of response to external stimulus | 1 |
| wound healing | 1 |
| regulation of wound healing | 1 |
| negative regulation of response to wounding | 1 |
| regulation of developmental growth | 1 |
| epithelium regeneration | 1 |
| cytoskeleton organization | 1 |
| intermediate filament-based process | 1 |
| nucleic acid binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| intermediate filament binding | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| apical junction complex | 1 |
| tight junction | 1 |
| basal plasma membrane | 1 |
| cell-substrate junction | 1 |
| intermediate filament | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
1260 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EPPK1 | PPL | O60437 | 668 |
| EPPK1 | DST | Q03001 | 620 |
| EPPK1 | A2ML1 | A8K2U0 | 574 |
| EPPK1 | MACF1 | Q9UPN3 | 506 |
| EPPK1 | DSG3 | P32926 | 505 |
| EPPK1 | KRT8 | P05787 | 497 |
| EPPK1 | DSG1 | Q02413 | 420 |
| EPPK1 | H7BZ11 | H7BZ11 | 411 |
| EPPK1 | ANO7 | Q6IWH7 | 410 |
| EPPK1 | PKP3 | Q9Y446 | 407 |
| EPPK1 | DSP | P15924 | 396 |
| EPPK1 | PKHD1 | P08F94 | 382 |
| EPPK1 | NRBP2 | Q9NSY0 | 381 |
| EPPK1 | OR8U1 | Q8NH10 | 379 |
| EPPK1 | METTL21C | Q5VZV1 | 373 |
IntAct
157 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GRB2 | EGFR | psi-mi:“MI:0914”(association) | 0.980 |
| VIM | NEFL | psi-mi:“MI:0914”(association) | 0.840 |
| YWHAH | FAM83G | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| ORF | EIF3F | psi-mi:“MI:0914”(association) | 0.560 |
| ZSCAN12 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| TBC1D22B | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM24 | PPL | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| NEFM | EVI5 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR83 | SH2B2 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
BioGRID (255): EPPK1 (Affinity Capture-MS), EPPK1 (Affinity Capture-MS), EPPK1 (Affinity Capture-MS), EPPK1 (Affinity Capture-MS), EPPK1 (Affinity Capture-MS), EPPK1 (Affinity Capture-MS), EPPK1 (Affinity Capture-MS), EPPK1 (Affinity Capture-MS), EPPK1 (Affinity Capture-MS), EPPK1 (Proximity Label-MS), EPPK1 (Proximity Label-MS), EPPK1 (Proximity Label-MS), EPPK1 (Proximity Label-MS), EPPK1 (Affinity Capture-MS), EPPK1 (Affinity Capture-MS)
ESM2 similar proteins: A0A4X1T4U3, A2SW69, A5A6L7, A6H603, A6NMY6, C1L7Y4, O35640, O76027, O97529, P04272, P07355, P07356, P13928, P14950, P17785, P19620, P21671, P24551, P24801, P27006, P51074, P51901, P58107, P93157, Q07936, Q2Q1M6, Q3ZBE0, Q3ZC08, Q5R5A0, Q5VT79, Q66KB7, Q6NVG1, Q6TEQ7, Q86U10, Q86VI3, Q8MIR4, Q8R0W0, Q8SPR7, Q92040, Q92108
Diamond homologs: A0A8M2BID5, A0A8M9PQ61, D3ZHV2, E9Q557, F1LMV6, P15924, P30427, P58107, Q15149, Q8R0W0, Q92817, Q9D952, Q9JI55, Q9QXS1, O60437, Q9R269, Q03001, Q91ZU6, Q9QXZ0, Q9UPN3, A5D7D1, D3ZHA0, D3ZQL6, E1BBG2, G1T168, G3V7L1, L7UZ85, M9MRD1, O13614, O13728, O14112, O15020, O43707, O75369, O76329, O77082, O77302, O88990, O97592, P05094
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 185 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Formation of the cornified envelope | 19 | 13.7× | 7e-14 |
| Keratinization | 18 | 8.2× | 2e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intermediate filament organization | 18 | 27.2× | 3e-18 |
| autophagosome maturation | 7 | 15.5× | 1e-04 |
| keratinization | 10 | 14.7× | 1e-06 |
| morphogenesis of an epithelium | 6 | 13.0× | 2e-03 |
| epithelial cell differentiation | 8 | 8.8× | 1e-03 |
| negative regulation of canonical NF-kappaB signal transduction | 8 | 8.7× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
594 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 354 |
| Likely benign | 177 |
| Benign | 62 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
520 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:143875355:C:A | donor_gain | 0.9800 |
| 8:143878440:G:A | donor_gain | 0.9700 |
| 8:143873294:CTGTC:C | acceptor_gain | 0.9100 |
| 8:143875354:T:TA | donor_gain | 0.9100 |
| 8:143878432:CCGCA:C | donor_loss | 0.9100 |
| 8:143878433:CGCA:C | donor_loss | 0.9100 |
| 8:143878434:GCA:G | donor_loss | 0.9100 |
| 8:143878435:CA:C | donor_loss | 0.9100 |
| 8:143878437:CC:C | donor_loss | 0.9100 |
| 8:143878438:C:G | donor_loss | 0.8900 |
| 8:143873299:C:T | acceptor_loss | 0.8800 |
| 8:143873300:T:A | acceptor_loss | 0.8800 |
| 8:143878394:G:A | donor_gain | 0.8800 |
| 8:143873301:G:C | acceptor_loss | 0.8700 |
| 8:143877240:C:A | donor_gain | 0.8700 |
| 8:143878278:AC:A | donor_gain | 0.8600 |
| 8:143878279:CC:C | donor_gain | 0.8600 |
| 8:143873310:A:T | acceptor_loss | 0.8400 |
| 8:143875350:C:CA | donor_gain | 0.8400 |
| 8:143875452:CCA:C | donor_gain | 0.8400 |
| 8:143878430:C:T | donor_gain | 0.8200 |
| 8:143878431:GCC:G | donor_loss | 0.8100 |
| 8:143878448:G:A | donor_gain | 0.8100 |
| 8:143873299:C:CC | acceptor_gain | 0.8000 |
| 8:143875415:AGAG:A | donor_gain | 0.8000 |
| 8:143875454:A:AC | donor_gain | 0.8000 |
| 8:143873319:CAAT:C | acceptor_loss | 0.7900 |
| 8:143877239:T:TA | donor_gain | 0.7900 |
| 8:143878375:G:A | donor_gain | 0.7900 |
| 8:143873309:C:CT | acceptor_loss | 0.7600 |
AlphaMissense
32464 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:143861252:A:G | L4001P | 0.999 |
| 8:143858237:A:G | L5006P | 0.998 |
| 8:143861290:G:C | F3988L | 0.998 |
| 8:143861290:G:T | F3988L | 0.998 |
| 8:143861292:A:G | F3988L | 0.998 |
| 8:143861293:G:C | F3987L | 0.998 |
| 8:143861293:G:T | F3987L | 0.998 |
| 8:143861295:A:G | F3987L | 0.998 |
| 8:143862854:A:G | L3467P | 0.998 |
| 8:143864447:A:G | L2936P | 0.998 |
| 8:143864488:G:C | F2922L | 0.998 |
| 8:143864488:G:T | F2922L | 0.998 |
| 8:143864490:A:G | F2922L | 0.998 |
| 8:143864633:A:G | L2874P | 0.998 |
| 8:143864676:C:G | A2860P | 0.998 |
| 8:143866055:A:G | L2400P | 0.998 |
| 8:143859950:A:G | L4435P | 0.997 |
| 8:143861267:A:G | L3996P | 0.997 |
| 8:143861438:A:G | L3939P | 0.997 |
| 8:143861552:A:G | L3901P | 0.997 |
| 8:143861774:A:T | I3827N | 0.997 |
| 8:143864485:G:C | F2923L | 0.997 |
| 8:143864485:G:T | F2923L | 0.997 |
| 8:143864487:A:G | F2923L | 0.997 |
| 8:143864660:A:G | L2865P | 0.997 |
| 8:143858351:A:G | L4968P | 0.996 |
| 8:143858394:C:G | A4954P | 0.996 |
| 8:143858518:G:C | S4912R | 0.996 |
| 8:143858518:G:T | S4912R | 0.996 |
| 8:143858520:T:G | S4912R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000620600 (8:143873085 C>T), RS1000734905 (8:143872945 C>G,T), RS1001031141 (8:143866753 G>A,C), RS1001417527 (8:143874866 C>T), RS1001470014 (8:143880139 C>G), RS1001834976 (8:143877929 C>A,T), RS1002475142 (8:143878150 G>A,C), RS1002823214 (8:143874045 C>T), RS1003258674 (8:143857162 A>C), RS1003373146 (8:143856947 C>A,T), RS1003492536 (8:143875880 A>C), RS1003510827 (8:143879981 G>A,T), RS1004039605 (8:143866989 C>T), RS1005051611 (8:143857919 A>C), RS1005214435 (8:143874666 G>T)
Disease associations
OMIM: gene MIM:607553 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): myoepithelial tumor (MONDO:0002380)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004881_4 | Knee osteoarthritis | 5.000000e-07 |
| GCST009597_153 | Multiple sclerosis | 2.000000e-08 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009208 | Myoepithelioma | C04.557.435.585 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
77 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | increases expression, affects cotreatment | 3 |
| Valproic Acid | increases expression, increases methylation | 3 |
| bisphenol A | decreases expression, increases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 2 |
| Air Pollutants | increases oxidation, increases expression, affects cotreatment, increases abundance | 2 |
| Benzo(a)pyrene | increases expression, increases methylation, affects methylation | 2 |
| Caffeine | decreases expression, decreases phosphorylation | 2 |
| Estradiol | increases expression, affects cotreatment, decreases expression | 2 |
| Mustard Gas | increases expression, increases phosphorylation | 2 |
| Nickel | increases expression | 2 |
| Smoke | decreases expression, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| deoxynivalenol | decreases expression | 1 |
| titanium dioxide | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid | increases abundance, affects methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| coumarin | increases phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| epigallocatechin gallate | decreases expression | 1 |
Clinical trials (associated diseases)
5 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03600649 | PHASE1 | UNKNOWN | Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas |
| NCT05266196 | PHASE1/PHASE2 | UNKNOWN | A Rollover Protocol to Allow for Continued Access to the LSD1 Inhibitor Seclidemstat (SP-2577) |
| NCT06239272 | PHASE1/PHASE2 | RECRUITING | NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS) |
| NCT06625190 | PHASE1/PHASE2 | RECRUITING | Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors |
| NCT06244420 | Not specified | COMPLETED | Malignant Myoepithelioma of Bone and Soft Tissues: Diagnostic Imaging and Histology in Relation to Prognosis |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): myoepithelial tumor, osteoarthritis, knee