EPDR1
geneOn this page
Also known as MERP-1MERP1UCC1EPDR
Summary
EPDR1 (ependymin related 1, HGNC:17572) is a protein-coding gene on chromosome 7p14.1, encoding Mammalian ependymin-related protein 1 (Q9UM22). Binds anionic lipids and gangliosides at acidic pH.
The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8.
Source: NCBI Gene 54749 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 35 total
- Druggable target: yes
- MANE Select transcript:
NM_017549
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17572 |
| Approved symbol | EPDR1 |
| Name | ependymin related 1 |
| Location | 7p14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MERP-1, MERP1, UCC1, EPDR |
| Ensembl gene | ENSG00000086289 |
| Ensembl biotype | protein_coding |
| OMIM | 619734 |
| Entrez | 54749 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000199448, ENST00000423717, ENST00000425345
RefSeq mRNA: 3 — MANE Select: NM_017549
NM_001242946, NM_001242948, NM_017549
CCDS: CCDS5454, CCDS59051, CCDS59052
Canonical transcript exons
ENST00000199448 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000832415 | 37950200 | 37951936 |
| ENSE00001188641 | 37920640 | 37921208 |
| ENSE00003532510 | 37948840 | 37949048 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 98.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.5762 / max 332.9946, expressed in 1508 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 78195 | 20.0024 | 1421 |
| 78183 | 1.2264 | 278 |
| 78204 | 0.8115 | 384 |
| 78200 | 0.7360 | 422 |
| 78196 | 0.5496 | 327 |
| 78198 | 0.4428 | 241 |
| 78202 | 0.4387 | 261 |
| 78203 | 0.3921 | 158 |
| 78197 | 0.2872 | 138 |
| 78199 | 0.2544 | 104 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pons | UBERON:0000988 | 98.92 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.66 | gold quality |
| decidua | UBERON:0002450 | 97.98 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.97 | gold quality |
| tibialis anterior | UBERON:0001385 | 97.65 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 97.64 | gold quality |
| deltoid | UBERON:0001476 | 97.58 | gold quality |
| quadriceps femoris | UBERON:0001377 | 97.32 | gold quality |
| vastus lateralis | UBERON:0001379 | 97.21 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.79 | gold quality |
| biceps brachii | UBERON:0001507 | 96.32 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 96.17 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 96.02 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.00 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 95.91 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.90 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 95.81 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 95.62 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.61 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 95.29 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.20 | gold quality |
| parietal lobe | UBERON:0001872 | 94.71 | gold quality |
| cerebellum | UBERON:0002037 | 94.71 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.67 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 94.66 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.59 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.52 | gold quality |
| muscle tissue | UBERON:0002385 | 94.41 | gold quality |
| medulla oblongata | UBERON:0001896 | 94.35 | gold quality |
| entorhinal cortex | UBERON:0002728 | 94.29 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 22.98 |
| E-GEOD-36552 | no | 57.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
103 targeting EPDR1, 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-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
Literature-anchored findings (GeneRIF, showing 10)
- Shows that the mouse ortholog is a lysosomal protein. (PMID:16954209)
- Results of this study suggest that EPDR1 gene can be added to a growing list of genes associated with Dupuytren’s disease development. (PMID:24089297)
- Study results suggest functional involvement of EPDR1 in the etiology of Dupuytren’s Disease. (PMID:27245865)
- EPDR1 exhibits a pattern of isoform abundance dependent on KRAS G13D and G12D mutations. (PMID:27805251)
- Crystal structures of human lysosomal EPDR1 reveal homology with the superfamily of bacterial lipoprotein transporters, such as LolA. (PMID:30729188)
- EPDR1 up-regulation in human colorectal cancer is related to staging and favours cell proliferation and invasiveness. (PMID:32111877)
- Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci for Estimating Angle Closure Disease Severity. (PMID:32682838)
- EPDR1 correlates with immune cell infiltration in hepatocellular carcinoma and can be used as a prognostic biomarker. (PMID:32935479)
- EPDR1 is related to stages and metastasize in bladder cancer and can be used as a prognostic biomarker. (PMID:33902536)
- Identification of bone mineral density associated genes with shared genetic architectures across multiple tissues: Functional insights for EPDR1, PKDCC, and SPTBN1. (PMID:38683846)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | epdr1 | ENSDARG00000045420 |
| danio_rerio | epdl2 | ENSDARG00000055539 |
| danio_rerio | epdl1 | ENSDARG00000076386 |
| danio_rerio | epd | ENSDARG00000103498 |
| mus_musculus | Epdr1 | ENSMUSG00000002808 |
| rattus_norvegicus | Epdr1 | ENSRNOG00000060141 |
Protein
Protein identifiers
Mammalian ependymin-related protein 1 — Q9UM22 (reviewed: Q9UM22)
Alternative names: Upregulated in colorectal cancer gene 1 protein
All UniProt accessions (1): Q9UM22
UniProt curated annotations — full annotation on UniProt →
Function. Binds anionic lipids and gangliosides at acidic pH.
Subunit / interactions. Homodimer.
Subcellular location. Lysosome lumen. Secreted.
Tissue specificity. Ubiquitous. Detected in brain, heart, skeletal muscle, kidney, testis, ovary and prostate.
Post-translational modifications. N-glycosylated; the glycan contains mannose-6-phosphate moieties.
Similarity. Belongs to the ependymin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UM22-1 | 1 | yes |
| Q9UM22-2 | 2 | |
| Q9UM22-3 | 3 |
RefSeq proteins (3): NP_001229875, NP_001229877, NP_060019* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001299 | Ependymin | Family |
| IPR018224 | Ependymin_CS | Conserved_site |
Pfam: PF00811
UniProt features (32 total): strand 13, turn 6, helix 3, disulfide bond 3, glycosylation site 2, splice variant 2, signal peptide 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6JLD | X-RAY DIFFRACTION | 2 |
| 6E7O | X-RAY DIFFRACTION | 3 |
| 6E8N | X-RAY DIFFRACTION | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UM22-F1 | 86.85 | 0.73 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (3): 42–172, 88–222, 113–210
Glycosylation sites (2): 130, 182
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 136 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, SHEPARD_BMYB_MORPHOLINO_DN, WEI_MYCN_TARGETS_WITH_E_BOX, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, MYOD_Q6, GOBP_ACTIN_MEDIATED_CELL_CONTRACTION, DOUGLAS_BMI1_TARGETS_DN, E12_Q6, GOBP_CELL_SUBSTRATE_ADHESION, GOBP_CELL_MATRIX_ADHESION, GOCC_LYSOSOMAL_LUMEN, GOCC_VACUOLAR_LUMEN, LIU_SOX4_TARGETS_UP
GO Biological Process (2): cell-matrix adhesion (GO:0007160), myofibroblast contraction (GO:1990764)
GO Molecular Function (6): calcium ion binding (GO:0005509), phospholipid binding (GO:0005543), identical protein binding (GO:0042802), ganglioside GM1 binding (GO:1905573), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (3): extracellular region (GO:0005576), lysosome (GO:0005764), lysosomal lumen (GO:0043202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| cell-substrate adhesion | 1 |
| actin-mediated cell contraction | 1 |
| metal ion binding | 1 |
| lipid binding | 1 |
| protein binding | 1 |
| carboxylic acid binding | 1 |
| ganglioside binding | 1 |
| cellular anatomical structure | 1 |
| lytic vacuole | 1 |
| lysosome | 1 |
| vacuolar lumen | 1 |
Protein interactions and networks
STRING
782 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EPDR1 | EEIG1 | Q5T9C2 | 609 |
| EPDR1 | DPM2 | O94777 | 603 |
| EPDR1 | PCMTD1 | Q96MG8 | 571 |
| EPDR1 | STARD3NL | O95772 | 536 |
| EPDR1 | PLEKHA7 | Q6IQ23 | 530 |
| EPDR1 | FERMT2 | Q96AC1 | 505 |
| EPDR1 | CPED1 | A4D0V7 | 487 |
| EPDR1 | DUS2 | Q9NX74 | 469 |
| EPDR1 | ZNF518B | Q9C0D4 | 464 |
| EPDR1 | DPYSL3 | Q14195 | 456 |
| EPDR1 | C10orf53 | Q8N6V4 | 452 |
| EPDR1 | GLIS3 | Q8NEA6 | 447 |
| EPDR1 | SFRP4 | Q6FHJ7 | 415 |
| EPDR1 | ECH1 | Q13011 | 408 |
| EPDR1 | DNPEP | Q9ULA0 | 408 |
IntAct
122 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KIF24 | CCP110 | psi-mi:“MI:0914”(association) | 0.810 |
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| KRT34 | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIP6 | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT31 | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADAMTSL4 | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PM20D2 | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP13-2 | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IGFBP6 | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP4-11 | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXA1 | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNS2 | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EHMT2 | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCGB1D1 | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| ENPP7 | TUBB3 | psi-mi:“MI:0914”(association) | 0.530 |
| SIRPD | HIKESHI | psi-mi:“MI:0914”(association) | 0.530 |
| COX5B | COX7A2L | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| ARF5 | ARF4 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | MRPS12 | psi-mi:“MI:0914”(association) | 0.530 |
| ARF5 | ARF3 | psi-mi:“MI:0914”(association) | 0.530 |
| EPDR1 | NAGA | psi-mi:“MI:0914”(association) | 0.530 |
| SLC15A4 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.530 |
| ADSL | EPDR1 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (106): EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), TRIP6 (Two-hybrid)
ESM2 similar proteins: A0S864, A2VDN0, A6QLI0, C0HKG5, C0HKG6, O00584, O09051, O43278, O95897, P08571, P12958, P13506, P15262, P17561, P28770, P28771, P28772, P32187, P32188, P38528, P86729, P86734, Q06AV4, Q16661, Q4R540, Q568Y7, Q5F259, Q5NVC3, Q5PQL7, Q5SC59, Q5SC60, Q5XII0, Q62190, Q6AYE5, Q6GPK2, Q6PVW7, Q71SY6, Q86UD1, Q8IUK5, Q8QZR4
Diamond homologs: A6QLI0, Q5XII0, Q99M71, Q9N0C7, Q9UM22
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 138 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular zinc ion homeostasis | 5 | 20.4× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
35 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
500 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:37921206:GAG:G | donor_gain | 1.0000 |
| 7:37949018:G:GT | donor_gain | 1.0000 |
| 7:37949031:GAAA:G | donor_gain | 1.0000 |
| 7:37949032:A:T | donor_gain | 1.0000 |
| 7:37949035:G:GG | donor_gain | 1.0000 |
| 7:37949040:C:G | donor_gain | 1.0000 |
| 7:37949045:TCCT:T | donor_gain | 1.0000 |
| 7:37949049:G:GG | donor_gain | 1.0000 |
| 7:37950197:TAGAT:T | acceptor_loss | 1.0000 |
| 7:37950198:A:AG | acceptor_gain | 1.0000 |
| 7:37950198:A:T | acceptor_loss | 1.0000 |
| 7:37950199:G:GG | acceptor_gain | 1.0000 |
| 7:37950199:GAT:G | acceptor_gain | 1.0000 |
| 7:37921185:G:GT | donor_gain | 0.9900 |
| 7:37921186:A:T | donor_gain | 0.9900 |
| 7:37921205:AGAG:A | donor_loss | 0.9900 |
| 7:37921206:G:GT | donor_gain | 0.9900 |
| 7:37921207:AG:A | donor_loss | 0.9900 |
| 7:37921208:GGT:G | donor_loss | 0.9900 |
| 7:37948830:T:A | acceptor_loss | 0.9900 |
| 7:37948833:GTTTC:G | acceptor_loss | 0.9900 |
| 7:37948836:TCA:T | acceptor_loss | 0.9900 |
| 7:37948837:CA:C | acceptor_loss | 0.9900 |
| 7:37948838:A:AG | acceptor_gain | 0.9900 |
| 7:37948839:G:GG | acceptor_gain | 0.9900 |
| 7:37948839:G:GT | acceptor_loss | 0.9900 |
| 7:37948839:GATT:G | acceptor_gain | 0.9900 |
| 7:37948839:GATTA:G | acceptor_gain | 0.9900 |
| 7:37949022:G:GA | donor_gain | 0.9900 |
| 7:37949044:ATCCT:A | donor_gain | 0.9900 |
AlphaMissense
1456 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:37949021:T:A | W151R | 0.999 |
| 7:37949021:T:C | W151R | 0.999 |
| 7:37949023:G:C | W151C | 0.999 |
| 7:37949023:G:T | W151C | 0.999 |
| 7:37948907:T:A | C113S | 0.998 |
| 7:37948908:G:C | C113S | 0.998 |
| 7:37950245:T:A | V175D | 0.998 |
| 7:37950332:T:G | F204C | 0.998 |
| 7:37921083:G:C | W48C | 0.997 |
| 7:37921083:G:T | W48C | 0.997 |
| 7:37921163:G:C | R75P | 0.997 |
| 7:37949013:T:A | V148D | 0.997 |
| 7:37949024:T:C | S152P | 0.997 |
| 7:37921169:G:C | R77P | 0.996 |
| 7:37948907:T:C | C113R | 0.996 |
| 7:37948936:G:C | W122C | 0.996 |
| 7:37948936:G:T | W122C | 0.996 |
| 7:37950332:T:C | F204S | 0.996 |
| 7:37921081:T:A | W48R | 0.995 |
| 7:37921081:T:C | W48R | 0.995 |
| 7:37950290:G:C | R190P | 0.995 |
| 7:37950331:T:C | F204L | 0.995 |
| 7:37950333:T:A | F204L | 0.995 |
| 7:37950333:T:G | F204L | 0.995 |
| 7:37950349:T:A | C210S | 0.995 |
| 7:37950350:G:C | C210S | 0.995 |
| 7:37948880:T:C | F104L | 0.994 |
| 7:37948881:T:C | F104S | 0.994 |
| 7:37948882:T:A | F104L | 0.994 |
| 7:37948882:T:G | F104L | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000140643 (7:37941462 G>A), RS1000197473 (7:37922922 T>C), RS1000254034 (7:37928929 T>G), RS1000306756 (7:37946420 C>T), RS1000401934 (7:37935252 G>A), RS1000457384 (7:37934350 T>A), RS1000537735 (7:37920263 A>C,G), RS1000596579 (7:37927710 C>A), RS1000612630 (7:37920020 C>G,T), RS1000657248 (7:37946586 A>C,G), RS1000780541 (7:37951663 G>A,C), RS1000861164 (7:37931712 T>C), RS1000943371 (7:37921850 A>C), RS1000957233 (7:37939003 G>T), RS10010 (7:37951594 A>G)
Disease associations
OMIM: gene MIM:619734 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001144_3 | Dupuytren’s disease | 6.000000e-39 |
| GCST003467_1 | Glaucoma (primary angle closure) | 6.000000e-15 |
| GCST003467_2 | Glaucoma (primary angle closure) | 7.000000e-11 |
| GCST003467_3 | Glaucoma (primary angle closure) | 2.000000e-06 |
| GCST004858_5 | Dupuytren’s disease | 2.000000e-44 |
| GCST004858_6 | Dupuytren’s disease | 3.000000e-81 |
| GCST005790_3 | Rosacea symptom severity | 2.000000e-06 |
| GCST005796_10 | Lumbar spine bone mineral density | 6.000000e-15 |
| GCST006288_149 | Heel bone mineral density | 4.000000e-24 |
| GCST006288_644 | Heel bone mineral density | 1.000000e-63 |
| GCST006288_751 | Heel bone mineral density | 7.000000e-38 |
| GCST006979_346 | Heel bone mineral density | 9.000000e-13 |
| GCST006979_347 | Heel bone mineral density | 2.000000e-09 |
| GCST008839_149 | Height | 3.000000e-14 |
| GCST009207_7 | Lateral ventricle volume | 6.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004229 | Dupuytren Contracture |
| EFO:0009180 | rosacea severity measurement |
| EFO:0007701 | spine bone mineral density |
| EFO:0009270 | heel bone mineral density |
| EFO:0008487 | lateral ventricle volume measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067378 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.94 | Kd | 11.49 | nM | CHEMBL5653589 |
| 7.80 | ED50 | 16 | nM | CHEMBL5653589 |
| 6.58 | Kd | 259.9 | nM | CHEMBL3752910 |
| 6.44 | ED50 | 361.9 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148325: Binding affinity to human EPDR1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0115 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148325: Binding affinity to human EPDR1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.2599 | uM |
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, increases expression | 4 |
| Benzo(a)pyrene | increases expression, increases methylation | 3 |
| bisphenol A | decreases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Cisplatin | increases expression | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Smoke | decreases expression, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| bisphenol F | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| sulforaphane | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| clothianidin | increases expression | 1 |
| belinostat | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651367 | Binding | Binding affinity to human EPDR1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): primary angle-closure glaucoma