COPE
gene geneOn this page
Also known as epsilon-COP
Summary
COPE (coat protein complex I subunit epsilon, HGNC:2234) is a protein-coding gene on chromosome 19p13.11, encoding Coatomer subunit epsilon (O14579). The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. It is a common-essential gene (DepMap: required in 95.2% of cancer cell lines).
The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta’, gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified.
Source: NCBI Gene 11316 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 72 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 95.2% of screened cell lines (common-essential)
- MANE Select transcript:
NM_007263
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2234 |
| Approved symbol | COPE |
| Name | coat protein complex I subunit epsilon |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | epsilon-COP |
| Ensembl gene | ENSG00000105669 |
| Ensembl biotype | protein_coding |
| OMIM | 606942 |
| Entrez | 11316 |
Gene structure
Transcript identifiers
Ensembl transcripts: 45 — 38 protein_coding, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000262812, ENST00000349893, ENST00000351079, ENST00000593827, ENST00000595984, ENST00000597026, ENST00000597646, ENST00000598969, ENST00000599964, ENST00000600528, ENST00000600932, ENST00000871093, ENST00000871094, ENST00000871095, ENST00000871096, ENST00000871097, ENST00000871098, ENST00000871099, ENST00000871100, ENST00000871101, ENST00000871102, ENST00000871103, ENST00000871104, ENST00000871105, ENST00000871106, ENST00000871107, ENST00000916152, ENST00000916153, ENST00000916154, ENST00000916155, ENST00000916156, ENST00000916157, ENST00000916158, ENST00000916159, ENST00000916160, ENST00000916161, ENST00000916162, ENST00000916163, ENST00000966210, ENST00000966211, ENST00000966212, ENST00000966213, ENST00000966214, ENST00000966215, ENST00000966216
RefSeq mRNA: 4 — MANE Select: NM_007263
NM_001330469, NM_007263, NM_199442, NM_199444
CCDS: CCDS12387, CCDS12388, CCDS12389, CCDS82321
Canonical transcript exons
ENST00000262812 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000690629 | 18905576 | 18905629 |
| ENSE00000866156 | 18919223 | 18919387 |
| ENSE00000866168 | 18899514 | 18899726 |
| ENSE00001113522 | 18906960 | 18907112 |
| ENSE00003465338 | 18912984 | 18913046 |
| ENSE00003490718 | 18899873 | 18899947 |
| ENSE00003503486 | 18903268 | 18903423 |
| ENSE00003540431 | 18900381 | 18900449 |
| ENSE00003658011 | 18904771 | 18904852 |
| ENSE00003667255 | 18910971 | 18911071 |
Expression profiles
Bgee: expression breadth ubiquitous, 282 present calls, max score 99.00.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 133.1989 / max 450.7584, expressed in 1826 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180112 | 132.4814 | 1826 |
| 180108 | 0.4424 | 225 |
| 180107 | 0.2752 | 113 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 99.00 | gold quality |
| left testis | UBERON:0004533 | 98.99 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.69 | gold quality |
| granulocyte | CL:0000094 | 98.59 | gold quality |
| endometrium epithelium | UBERON:0004811 | 98.50 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.36 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.34 | gold quality |
| pituitary gland | UBERON:0000007 | 98.32 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.32 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.31 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.31 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.28 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.20 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.20 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.10 | gold quality |
| body of stomach | UBERON:0001161 | 98.05 | gold quality |
| body of pancreas | UBERON:0001150 | 97.96 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.93 | gold quality |
| apex of heart | UBERON:0002098 | 97.93 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.93 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.93 | gold quality |
| testis | UBERON:0000473 | 97.92 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.90 | gold quality |
| monocyte | CL:0000576 | 97.85 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.85 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.80 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.78 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.76 | gold quality |
| skin of leg | UBERON:0001511 | 97.71 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.69 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 3730.76 |
| E-GEOD-124263 | yes | 1933.97 |
| E-HCAD-1 | yes | 43.39 |
| E-CURD-122 | yes | 24.41 |
| E-CURD-46 | yes | 21.31 |
| E-HCAD-9 | yes | 19.63 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
9 targeting COPE, 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-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-6803-5P | 99.19 | 63.90 | 1026 |
| HSA-MIR-3145-3P | 98.85 | 69.07 | 2031 |
| HSA-MIR-3620-3P | 97.78 | 64.88 | 772 |
| HSA-MIR-4653-3P | 96.26 | 67.03 | 725 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 95.2% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- Ubiquitylation of epsilon-COP by PIRH2; overexpression of the wild type of PIRH2 in prostate cancer cells causes downregulation of the secretion of prostate-specific antigen. (PMID:17721809)
- Data show that iPLA(1)gamma is a novel membrane transport factor that contributes to a specific Golgi-to-ER retrograde pathway distinct from presently characterized COPI- and Rab6-dependent pathways. (PMID:19632984)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cope | ENSDARG00000018562 |
| mus_musculus | Cope | ENSMUSG00000055681 |
| rattus_norvegicus | Cope | ENSRNOG00000020178 |
| drosophila_melanogaster | epsilonCOP | FBGN0027496 |
| caenorhabditis_elegans | WBGENE00009732 |
Protein
Protein identifiers
Coatomer subunit epsilon — O14579 (reviewed: O14579)
Alternative names: Epsilon-coat protein
All UniProt accessions (3): O14579, M0QXB4, M0R061
UniProt curated annotations — full annotation on UniProt →
Function. The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated with ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors.
Subunit / interactions. Oligomeric complex that consists of at least the alpha, beta, beta’, gamma, delta, epsilon and zeta subunits.
Subcellular location. Cytoplasm. Golgi apparatus membrane. Cytoplasmic vesicle. COPI-coated vesicle membrane.
Post-translational modifications. Phosphorylated by PKA. Polyubiquitinated by RCHY1 in the presence of androgen, leading to proteasomal degradation.
Similarity. Belongs to the COPE family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O14579-1 | 1 | yes |
| O14579-2 | 2 | |
| O14579-3 | 3 |
RefSeq proteins (4): NP_001317398, NP_009194, NP_955474, NP_955476 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006822 | Coatomer_esu | Family |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
Pfam: PF04733
UniProt features (29 total): helix 18, modified residue 3, splice variant 3, sequence variant 2, initiator methionine 1, chain 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6U3V | X-RAY DIFFRACTION | 2.96 |
| 6TZT | X-RAY DIFFRACTION | 3.06 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14579-F1 | 90.20 | 0.78 |
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 (3): 13, 45, 99
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
MSigDB gene sets: 155 (showing top):
MODULE_255, ENK_UV_RESPONSE_KERATINOCYTE_UP, MORF_HDAC1, MODULE_317, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, MORF_SKP1A, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GROSS_ELK3_TARGETS_DN, GOCC_COATED_VESICLE, GOCC_GOLGI_ASSOCIATED_VESICLE, GOCC_VESICLE_COAT, MORF_GPX4, MODULE_207
GO Biological Process (6): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), intra-Golgi vesicle-mediated transport (GO:0006891), protein transport (GO:0015031), protein localization to axon (GO:0099612), vesicle-mediated transport (GO:0016192)
GO Molecular Function (2): structural molecule activity (GO:0005198), protein binding (GO:0005515)
GO Cellular Component (12): Golgi membrane (GO:0000139), nucleoplasm (GO:0005654), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), cytosol (GO:0005829), COPI vesicle coat (GO:0030126), transport vesicle (GO:0030133), cytoplasm (GO:0005737), membrane (GO:0016020), COPI-coated vesicle (GO:0030137), COPI-coated vesicle membrane (GO:0030663), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| ER to Golgi Anterograde Transport | 1 |
| Golgi-to-ER retrograde transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| cellular anatomical structure | 4 |
| Golgi vesicle transport | 3 |
| transport | 2 |
| intracellular protein localization | 2 |
| Golgi apparatus | 2 |
| endomembrane system | 2 |
| intercellular transport | 1 |
| intracellular transport | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| molecular_function | 1 |
| binding | 1 |
| bounding membrane of organelle | 1 |
| nuclear lumen | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| intracellular membrane-bounded organelle | 1 |
| vesicle coat | 1 |
| COPI-coated vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| intracellular anatomical structure | 1 |
| Golgi-associated vesicle | 1 |
| coated vesicle | 1 |
| COPI-coated vesicle | 1 |
| Golgi-associated vesicle membrane | 1 |
| coated vesicle membrane | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
2112 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COPE | COPB2 | P35606 | 999 |
| COPE | COPA | P53621 | 999 |
| COPE | COPB1 | P53618 | 998 |
| COPE | ARCN1 | P48444 | 998 |
| COPE | COPZ1 | P61923 | 996 |
| COPE | COPG1 | Q9Y678 | 772 |
| COPE | SEC13 | P55735 | 671 |
| COPE | ARF1 | P10947 | 661 |
| COPE | RER1 | O15258 | 566 |
| COPE | COPZ2 | Q9P299 | 562 |
| COPE | COPG2 | Q9UBF2 | 517 |
| COPE | GOLPH3 | Q9H4A6 | 505 |
| COPE | PREB | Q9HCU5 | 500 |
| COPE | BET1 | O15155 | 463 |
| COPE | SEC31A | O94979 | 455 |
IntAct
133 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| COPE | EFHC2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| EFHC2 | COPE | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| COPG1 | COPE | psi-mi:“MI:0914”(association) | 0.640 |
| SACM1L | COPE | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| INSR | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.570 |
| COPE | CDC42EP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| Copa | COPE | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPM1G | COPE | psi-mi:“MI:0914”(association) | 0.530 |
| COPZ1 | COPE | psi-mi:“MI:0914”(association) | 0.530 |
| COPE | COPB2 | psi-mi:“MI:0914”(association) | 0.530 |
| TGOLN2 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.420 |
| TNFAIP3 | LRRIQ3 | psi-mi:“MI:2364”(proximity) | 0.420 |
| COPE | TSG101 | psi-mi:“MI:0915”(physical association) | 0.370 |
| COPE | MBD1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MYH6 | ELOC | psi-mi:“MI:0914”(association) | 0.350 |
| Copa | BCAP29 | psi-mi:“MI:0914”(association) | 0.350 |
| Sacm1l | COPE | psi-mi:“MI:0914”(association) | 0.350 |
| Erp44 | MEN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (446): EFHC2 (Two-hybrid), COPE (Affinity Capture-RNA), COPE (Affinity Capture-MS), COPA (Co-fractionation), COPE (Co-fractionation), COPE (Co-fractionation), COPE (Co-fractionation), COPE (Co-fractionation), COPE (Co-fractionation), COPE (Co-fractionation), COPE (Co-fractionation), COPE (Co-fractionation), COPG1 (Co-fractionation), COPG2 (Co-fractionation), DTNBP1 (Co-fractionation)
ESM2 similar proteins: A2AKQ8, A2VE45, A2XY73, A4R796, A6H739, A8JA42, A8XBR9, B2RYD6, B3P0R4, E9Q6P5, O14579, O62246, O64748, O75843, O76094, P0C541, P33731, Q03560, Q0HA38, Q16JL4, Q20938, Q23049, Q28104, Q29L58, Q2HBQ2, Q4P7J4, Q4QQS2, Q5DM57, Q5R5M2, Q5RFR8, Q5ZIK9, Q6INC1, Q75AI5, Q7PRA4, Q7S519, Q7Z4L5, Q84K16, Q86TV6, Q86WT1, Q8C0S4
Diamond homologs: A2XY73, O14579, O62246, O64748, O89079, P0C541, Q28104, Q55FU2, Q5RFR8, Q5ZIK9, Q60445, Q9MAX6, Q9SA78
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RCHY1 | “down-regulates quantity by destabilization” | COPE | polyubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 130 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 |
|---|---|---|---|
| COPI-dependent Golgi-to-ER retrograde traffic | 7 | 9.5× | 3e-03 |
| COPI-mediated anterograde transport | 7 | 9.4× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intra-Golgi vesicle-mediated transport | 6 | 31.9× | 3e-05 |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 6 | 20.4× | 2e-04 |
| cell surface receptor protein tyrosine kinase signaling pathway | 7 | 12.3× | 6e-04 |
| protein autophosphorylation | 6 | 8.8× | 9e-03 |
| intracellular protein transport | 10 | 6.5× | 8e-04 |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 8 | 6.3× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2028 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:18899868:CTCA:C | donor_loss | 1.0000 |
| 19:18899869:TCA:T | donor_loss | 1.0000 |
| 19:18899870:CACC:C | donor_loss | 1.0000 |
| 19:18899872:C:CG | donor_loss | 1.0000 |
| 19:18899887:C:CA | donor_gain | 1.0000 |
| 19:18899945:CAC:C | acceptor_gain | 1.0000 |
| 19:18899948:C:CC | acceptor_gain | 1.0000 |
| 19:18899948:CTGC:C | acceptor_loss | 1.0000 |
| 19:18899949:T:A | acceptor_loss | 1.0000 |
| 19:18900375:GCTTA:G | donor_loss | 1.0000 |
| 19:18900376:CTTAC:C | donor_loss | 1.0000 |
| 19:18900377:TTAC:T | donor_loss | 1.0000 |
| 19:18900378:TACC:T | donor_loss | 1.0000 |
| 19:18900379:A:AC | donor_gain | 1.0000 |
| 19:18900380:C:CC | donor_gain | 1.0000 |
| 19:18900380:CCT:C | donor_gain | 1.0000 |
| 19:18900445:CTATC:C | acceptor_gain | 1.0000 |
| 19:18900446:TATC:T | acceptor_gain | 1.0000 |
| 19:18900448:TC:T | acceptor_gain | 1.0000 |
| 19:18900449:CC:C | acceptor_gain | 1.0000 |
| 19:18900450:C:CA | acceptor_loss | 1.0000 |
| 19:18900450:C:CC | acceptor_gain | 1.0000 |
| 19:18900451:T:C | acceptor_loss | 1.0000 |
| 19:18900457:C:CT | acceptor_gain | 1.0000 |
| 19:18900459:C:CT | acceptor_gain | 1.0000 |
| 19:18900460:A:T | acceptor_gain | 1.0000 |
| 19:18903263:CCTA:C | donor_loss | 1.0000 |
| 19:18903264:CTAC:C | donor_loss | 1.0000 |
| 19:18903265:TA:T | donor_loss | 1.0000 |
| 19:18903266:A:AC | donor_gain | 1.0000 |
AlphaMissense
2013 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:18904790:G:T | A187D | 0.999 |
| 19:18904791:C:G | A187P | 0.998 |
| 19:18904799:A:G | L184P | 0.998 |
| 19:18905579:G:T | A165D | 0.998 |
| 19:18905591:C:G | R161P | 0.998 |
| 19:18912997:G:T | A59E | 0.998 |
| 19:18919247:G:C | C34W | 0.998 |
| 19:18899922:A:G | L277P | 0.997 |
| 19:18906996:G:T | A136D | 0.997 |
| 19:18910998:G:T | A88D | 0.997 |
| 19:18911055:A:T | V69D | 0.997 |
| 19:18912998:C:G | A59P | 0.997 |
| 19:18903336:C:G | A223P | 0.996 |
| 19:18905592:G:T | R161S | 0.996 |
| 19:18919237:C:G | A38P | 0.996 |
| 19:18919248:C:T | C34Y | 0.996 |
| 19:18900420:G:C | N255K | 0.995 |
| 19:18900420:G:T | N255K | 0.995 |
| 19:18904797:C:G | A185P | 0.995 |
| 19:18906993:A:G | L137P | 0.995 |
| 19:18907032:G:T | A124D | 0.995 |
| 19:18919249:A:G | C34R | 0.995 |
| 19:18903279:C:G | A242P | 0.993 |
| 19:18904818:C:G | D178H | 0.993 |
| 19:18907035:G:T | A123D | 0.993 |
| 19:18907036:C:G | A123P | 0.993 |
| 19:18910999:C:G | A88P | 0.993 |
| 19:18919236:G:T | A38E | 0.993 |
| 19:18919245:A:T | I35K | 0.993 |
| 19:18919263:C:T | G29D | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000006766 (19:18906682 G>A), RS1000111607 (19:18907876 T>C), RS1000142790 (19:18908146 A>G), RS1000229723 (19:18901735 A>C), RS1000244 (19:18919658 A>C,G), RS1000245 (19:18920278 C>G), RS1000453351 (19:18918589 A>C), RS1000580467 (19:18901928 C>T), RS1000646321 (19:18912094 G>A), RS1000872946 (19:18915348 C>A,T), RS1000912655 (19:18910559 CTG>C), RS1001006293 (19:18905794 C>CGCTCA), RS1001201204 (19:18911745 G>A), RS1001253566 (19:18911953 T>C), RS1001317211 (19:18901996 C>A,G)
Disease associations
OMIM: gene MIM:606942 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067056 (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 |
|---|---|---|---|---|
| 6.90 | Kd | 126.2 | nM | CHEMBL5653589 |
| 6.90 | ED50 | 126.2 | nM | CHEMBL5653589 |
| 6.10 | Kd | 786.7 | nM | CHEMBL3752910 |
| 6.10 | ED50 | 786.7 | 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 | 2148117: Binding affinity to human COPE incubated for 45 mins by Kinobead based pull down assay | kd | 0.1262 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148117: Binding affinity to human COPE incubated for 45 mins by Kinobead based pull down assay | kd | 0.7867 | uM |
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 4 |
| Cyclosporine | increases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment, increases expression | 3 |
| cobaltous chloride | decreases expression | 2 |
| Valproic Acid | increases methylation, affects cotreatment, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| bufalin | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| ICG 001 | decreases expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Vehicle Emissions | increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, increases abundance, increases expression | 1 |
| Quercetin | increases 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 |
|---|---|---|---|
| CHEMBL5651159 | Binding | Binding affinity to human COPE 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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.