COPG2
gene geneOn this page
Also known as 2-COP
Summary
COPG2 (coat protein complex I subunit gamma 2, HGNC:2237) is a protein-coding gene on chromosome 7q32.2, encoding Coatomer subunit gamma-2 (Q9UBF2). 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.
Predicted to enable structural molecule activity. Involved in intra-Golgi vesicle-mediated transport. Part of COPI vesicle coat.
Source: NCBI Gene 26958 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 47 total
- Druggable target: yes
- MANE Select transcript:
NM_012133
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2237 |
| Approved symbol | COPG2 |
| Name | coat protein complex I subunit gamma 2 |
| Location | 7q32.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | 2-COP |
| Ensembl gene | ENSG00000158623 |
| Ensembl biotype | protein_coding |
| OMIM | 604355 |
| Entrez | 26958 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron
ENST00000330992, ENST00000425248, ENST00000617523
RefSeq mRNA: 2 — MANE Select: NM_012133
NM_001290033, NM_012133
CCDS: CCDS75662, CCDS78275
Canonical transcript exons
ENST00000425248 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001293825 | 130507685 | 130507823 |
| ENSE00001299244 | 130508562 | 130508659 |
| ENSE00001365015 | 130666849 | 130666929 |
| ENSE00001366018 | 130612152 | 130612238 |
| ENSE00001369605 | 130662967 | 130663038 |
| ENSE00001372340 | 130652869 | 130652948 |
| ENSE00001376012 | 130667482 | 130667534 |
| ENSE00001377828 | 130616990 | 130617065 |
| ENSE00001388747 | 130613544 | 130613636 |
| ENSE00001701959 | 130668632 | 130668748 |
| ENSE00001737345 | 130610953 | 130611110 |
| ENSE00001800878 | 130506238 | 130506806 |
| ENSE00003520841 | 130507274 | 130507372 |
| ENSE00003712041 | 130551241 | 130551344 |
| ENSE00003712077 | 130554481 | 130554724 |
| ENSE00003715027 | 130555037 | 130555132 |
| ENSE00003715470 | 130563269 | 130563336 |
| ENSE00003733925 | 130561033 | 130561221 |
| ENSE00003737364 | 130564260 | 130564393 |
| ENSE00003740037 | 130548403 | 130548542 |
| ENSE00003742173 | 130552355 | 130552430 |
| ENSE00003743590 | 130549314 | 130549376 |
| ENSE00003745238 | 130550524 | 130550649 |
| ENSE00003751230 | 130547674 | 130547845 |
Expression profiles
Bgee: expression breadth ubiquitous, 199 present calls, max score 92.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.0781 / max 494.4929, expressed in 1795 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 86159 | 22.0781 | 1795 |
Top tissues by expression
239 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 92.76 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.00 | gold quality |
| ventricular zone | UBERON:0003053 | 91.81 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.06 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.86 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.08 | gold quality |
| left ovary | UBERON:0002119 | 89.06 | gold quality |
| islet of Langerhans | UBERON:0000006 | 88.85 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.69 | gold quality |
| right testis | UBERON:0004534 | 87.66 | gold quality |
| right ovary | UBERON:0002118 | 87.37 | gold quality |
| adrenal gland | UBERON:0002369 | 87.29 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.08 | gold quality |
| ovary | UBERON:0000992 | 86.50 | gold quality |
| left testis | UBERON:0004533 | 86.34 | gold quality |
| gastrocnemius | UBERON:0001388 | 85.84 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.83 | gold quality |
| muscle of leg | UBERON:0001383 | 85.66 | gold quality |
| skin of leg | UBERON:0001511 | 85.59 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 85.50 | gold quality |
| ectocervix | UBERON:0012249 | 85.44 | gold quality |
| skin of abdomen | UBERON:0001416 | 85.25 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.21 | gold quality |
| testis | UBERON:0000473 | 85.19 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 84.96 | gold quality |
| monocyte | CL:0000576 | 84.95 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.95 | gold quality |
| leukocyte | CL:0000738 | 84.85 | gold quality |
| rectum | UBERON:0001052 | 84.63 | gold quality |
| gall bladder | UBERON:0002110 | 84.58 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 5.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
45 targeting COPG2, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-7159-3P | 99.51 | 70.17 | 1920 |
| HSA-MIR-4643 | 99.49 | 67.63 | 1791 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-5580-5P | 99.38 | 66.96 | 1139 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-6128 | 99.33 | 67.83 | 1581 |
| HSA-MIR-3692-5P | 99.29 | 67.04 | 1421 |
| HSA-MIR-4504 | 99.10 | 69.14 | 1328 |
| HSA-MIR-6506-5P | 99.04 | 65.66 | 1386 |
| HSA-MIR-4738-3P | 98.98 | 67.98 | 1846 |
| HSA-MIR-3926 | 98.95 | 69.26 | 1438 |
| HSA-MIR-4711-5P | 98.89 | 68.00 | 965 |
| HSA-MIR-5006-5P | 98.79 | 66.92 | 1246 |
Literature-anchored findings (GeneRIF, showing 3)
- Mutation sscreening and imprinting analysis of candidate genes for autism in the 7q32 region (PMID:11920156)
- In cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes. (PMID:22456293)
- SCYL1 arginine methylation by PRMT1 is essential for neurite outgrowth via Golgi morphogenesis. (PMID:32583741)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | copg2 | ENSDARG00000034823 |
| mus_musculus | Copg2 | ENSMUSG00000025607 |
| rattus_norvegicus | Copg2 | ENSRNOG00000011014 |
| drosophila_melanogaster | gammaCOP | FBGN0028968 |
| caenorhabditis_elegans | WBGENE00011775 |
Paralogs (1): COPG1 (ENSG00000181789)
Protein
Protein identifiers
Coatomer subunit gamma-2 — Q9UBF2 (reviewed: Q9UBF2)
Alternative names: Gamma-2-coat protein
All UniProt accessions (2): A0A140VK12, Q9UBF2
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. 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 to 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. Binds to CDC42. Interacts with JAGN1. Interacts with TMED10 (via cytoplasmic domain).
Subcellular location. Cytoplasm. Cytosol. Golgi apparatus membrane. Cytoplasmic vesicle. COPI-coated vesicle membrane.
Similarity. Belongs to the COPG family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UBF2-1 | 1 | yes |
| Q9UBF2-2 | 2 |
RefSeq proteins (2): NP_001276962, NP_036265* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002553 | Clathrin/coatomer_adapt-like_N | Domain |
| IPR009028 | Coatomer/calthrin_app_sub_C | Homologous_superfamily |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR012295 | TBP_dom_sf | Homologous_superfamily |
| IPR013040 | Coatomer_gsu_app_Ig-like_dom | Domain |
| IPR013041 | Clathrin_app_Ig-like_sf | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR017106 | Coatomer_gsu | Family |
| IPR032154 | Coatomer_g_Cpla | Domain |
| IPR037067 | Coatomer_gsu_app_sf | Homologous_superfamily |
Pfam: PF01602, PF08752, PF16381
UniProt features (14 total): repeat 6, splice variant 2, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UBF2-F1 | 87.98 | 0.58 |
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 (1): 594
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: 163 (showing top):
GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, NF1_Q6_01, GOCC_COATED_VESICLE, chr7q32, GOBP_SECRETION, GOCC_GOLGI_ASSOCIATED_VESICLE, GOCC_VESICLE_COAT, AACTTT_UNKNOWN, GOCC_NEURON_PROJECTION
GO Biological Process (8): intracellular protein transport (GO:0006886), 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 secretion (GO:0009306), organelle transport along microtubule (GO:0072384), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192)
GO Molecular Function (1): structural molecule activity (GO:0005198)
GO Cellular Component (16): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), cytosol (GO:0005829), COPI vesicle coat (GO:0030126), transport vesicle (GO:0030133), growth cone (GO:0030426), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), membrane (GO:0016020), membrane coat (GO:0030117), COPI-coated vesicle (GO:0030137), COPI-coated vesicle membrane (GO:0030663), cytoplasmic vesicle (GO:0031410), bounding membrane of organelle (GO:0098588)
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 | 7 |
| Golgi vesicle transport | 3 |
| endomembrane system | 3 |
| intracellular membrane-bounded organelle | 3 |
| cellular anatomical structure | 3 |
| intracellular protein localization | 2 |
| protein transport | 2 |
| intracellular transport | 2 |
| transport | 2 |
| Golgi apparatus | 2 |
| organelle membrane | 2 |
| intercellular transport | 1 |
| secretion by cell | 1 |
| establishment of protein localization to extracellular region | 1 |
| protein localization to extracellular region | 1 |
| transport along microtubule | 1 |
| establishment of organelle localization | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| molecular_function | 1 |
| bounding membrane of organelle | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| vesicle coat | 1 |
| COPI-coated vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| site of polarized growth | 1 |
| distal axon | 1 |
| intracellular anatomical structure | 1 |
| coated membrane | 1 |
| membrane protein complex | 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
1260 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COPG2 | COPB1 | P53618 | 915 |
| COPG2 | COPB2 | P35606 | 909 |
| COPG2 | MEST | Q5EB52 | 908 |
| COPG2 | ARCN1 | P48444 | 818 |
| COPG2 | COPZ1 | P61923 | 787 |
| COPG2 | GRB10 | Q13322 | 775 |
| COPG2 | COPZ2 | Q9P299 | 704 |
| COPG2 | IGF2 | P01344 | 674 |
| COPG2 | SCYL1 | Q96KG9 | 664 |
| COPG2 | TSGA13 | Q96PP4 | 647 |
| COPG2 | DLK1 | P15803 | 612 |
| COPG2 | CEP41 | Q9BYV8 | 609 |
| COPG2 | CDKN1C | P49918 | 565 |
| COPG2 | ASB4 | Q9Y574 | 563 |
| COPG2 | TMED10 | P49755 | 536 |
IntAct
125 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| COPG1 | COPB2 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| SPTLC1 | SPTLC2 | psi-mi:“MI:0914”(association) | 0.680 |
| COPG1 | COPE | psi-mi:“MI:0914”(association) | 0.640 |
| CANX | PGRMC1 | psi-mi:“MI:0914”(association) | 0.570 |
| Copa | COPE | psi-mi:“MI:0915”(physical association) | 0.560 |
| XPO1 | psi-mi:“MI:0914”(association) | 0.530 | |
| CD74 | PGRMC1 | 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 |
| MYL12B | psi-mi:“MI:0914”(association) | 0.460 | |
| TGOLN2 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.420 |
| Copa | BCAP29 | psi-mi:“MI:0914”(association) | 0.350 |
| Sacm1l | COPE | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| TSPO | psi-mi:“MI:0914”(association) | 0.350 | |
| NUDCD1 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (228): COPG2 (Affinity Capture-RNA), COPG2 (Affinity Capture-MS), COPG2 (Affinity Capture-MS), COPG2 (Affinity Capture-MS), COPG2 (Co-fractionation), COPG2 (Co-fractionation), COPG2 (Affinity Capture-MS), COPG2 (Reconstituted Complex), COPG2 (Affinity Capture-MS), COPG2 (Affinity Capture-MS), COPG2 (Affinity Capture-MS), COPG2 (Affinity Capture-MS), COPG2 (Affinity Capture-MS), COPG2 (Affinity Capture-MS), COPG2 (Affinity Capture-MS)
ESM2 similar proteins: A1A5G0, A1A5K2, A2AGT5, A2VE21, A7MBJ5, D4ABY2, G5EEM5, O35643, O81742, P22892, P52303, P53620, P55060, P62944, P63009, P63010, P97536, Q08DS7, Q0WW26, Q10567, Q14008, Q1ZXQ8, Q29AE5, Q32PG1, Q4AEF8, Q4U0G1, Q5N749, Q5R6L5, Q5RHR0, Q66JI9, Q6DDM4, Q6DKD7, Q6GM65, Q6Z382, Q6ZQ38, Q7Z460, Q80TV8, Q86VP6, Q8H852, Q94FN2
Diamond homologs: A2VE21, D4ABY2, P32074, P53620, P87140, Q0WW26, Q22498, Q29AE5, Q4AEF8, Q54HL0, Q66JI9, Q6DKD7, Q6Z382, Q7PVF6, Q8H852, Q8I0G5, Q9I8E6, Q9PUE4, Q9QXK3, Q9QZE5, Q9UBF2, Q9Y678
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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| COPI-dependent Golgi-to-ER retrograde traffic | 9 | 10.6× | 9e-05 |
| COPI-mediated anterograde transport | 8 | 9.3× | 6e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intra-Golgi vesicle-mediated transport | 5 | 22.9× | 1e-03 |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 6 | 17.6× | 1e-03 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 7 | 8.3× | 4e-03 |
| mRNA splicing, via spliceosome | 9 | 7.2× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1222 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:130611106:TGGTA:T | acceptor_gain | 1.0000 |
| 7:130611107:GGTA:G | acceptor_gain | 1.0000 |
| 7:130611108:GTA:G | acceptor_gain | 1.0000 |
| 7:130611109:TA:T | acceptor_gain | 1.0000 |
| 7:130611109:TAC:T | acceptor_loss | 1.0000 |
| 7:130611111:C:A | acceptor_loss | 1.0000 |
| 7:130611111:C:CC | acceptor_gain | 1.0000 |
| 7:130611119:CA:C | acceptor_gain | 1.0000 |
| 7:130611120:A:AC | acceptor_gain | 1.0000 |
| 7:130611120:A:C | acceptor_gain | 1.0000 |
| 7:130612146:CAATA:C | donor_loss | 1.0000 |
| 7:130612147:AATAC:A | donor_loss | 1.0000 |
| 7:130612148:ATACC:A | donor_loss | 1.0000 |
| 7:130612149:TACCT:T | donor_loss | 1.0000 |
| 7:130612150:A:C | donor_loss | 1.0000 |
| 7:130612151:CCTG:C | donor_loss | 1.0000 |
| 7:130612153:TGG:T | donor_gain | 1.0000 |
| 7:130612167:A:AC | donor_gain | 1.0000 |
| 7:130612234:ATGTG:A | acceptor_gain | 1.0000 |
| 7:130612235:TGTG:T | acceptor_gain | 1.0000 |
| 7:130612236:GTG:G | acceptor_gain | 1.0000 |
| 7:130612237:TG:T | acceptor_gain | 1.0000 |
| 7:130612237:TGC:T | acceptor_loss | 1.0000 |
| 7:130612238:GCT:G | acceptor_loss | 1.0000 |
| 7:130612239:C:CC | acceptor_gain | 1.0000 |
| 7:130612239:C:T | acceptor_loss | 1.0000 |
| 7:130612240:T:C | acceptor_loss | 1.0000 |
| 7:130612243:A:AC | acceptor_gain | 1.0000 |
| 7:130612243:A:C | acceptor_gain | 1.0000 |
| 7:130612246:C:CT | acceptor_gain | 1.0000 |
AlphaMissense
5775 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:130551315:C:G | R525P | 1.000 |
| 7:130552427:G:T | A491D | 1.000 |
| 7:130554504:A:G | L482P | 1.000 |
| 7:130554512:C:A | R479S | 1.000 |
| 7:130554512:C:G | R479S | 1.000 |
| 7:130554513:C:A | R479M | 1.000 |
| 7:130554513:C:G | R479T | 1.000 |
| 7:130554515:A:C | N478K | 1.000 |
| 7:130554515:A:T | N478K | 1.000 |
| 7:130554582:A:G | L456P | 1.000 |
| 7:130554614:G:C | D445E | 1.000 |
| 7:130554614:G:T | D445E | 1.000 |
| 7:130554615:T:G | D445A | 1.000 |
| 7:130554616:C:G | D445H | 1.000 |
| 7:130554633:A:G | L439P | 1.000 |
| 7:130554707:C:A | K414N | 1.000 |
| 7:130554707:C:G | K414N | 1.000 |
| 7:130555047:A:G | L405P | 1.000 |
| 7:130555104:A:G | L386P | 1.000 |
| 7:130555117:C:G | A382P | 1.000 |
| 7:130561082:A:G | L360P | 1.000 |
| 7:130561115:A:G | L349P | 1.000 |
| 7:130561115:A:T | L349H | 1.000 |
| 7:130561118:A:G | L348P | 1.000 |
| 7:130561118:A:T | L348H | 1.000 |
| 7:130561121:G:T | T347K | 1.000 |
| 7:130561127:A:T | I345N | 1.000 |
| 7:130561130:G:T | A344D | 1.000 |
| 7:130561131:C:G | A344P | 1.000 |
| 7:130561139:G:T | A341D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001258 (7:130626583 C>G,T), RS1000003477 (7:130648333 T>C), RS1000087734 (7:130551157 A>G), RS1000119418 (7:130510772 G>A), RS1000137422 (7:130665394 G>A), RS1000164306 (7:130571119 C>A), RS1000164642 (7:130623150 G>A), RS1000172401 (7:130511034 C>T), RS1000236361 (7:130528107 G>C), RS1000237688 (7:130533033 G>C), RS1000266901 (7:130629304 T>C), RS1000285996 (7:130598537 T>C), RS1000290212 (7:130532803 C>G,T), RS1000346168 (7:130577371 C>G), RS1000400986 (7:130589928 T>C)
Disease associations
OMIM: gene MIM:604355 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002553_9 | Pancreatic cancer | 3.000000e-12 |
| GCST005958_14 | Waist-to-hip ratio adjusted for BMI (age >50) | 1.000000e-07 |
| GCST005962_34 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 6.000000e-07 |
| GCST90020024_122 | A body shape index | 2.000000e-09 |
| GCST90020029_896 | Waist circumference adjusted for body mass index | 3.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067321 (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 |
|---|---|---|---|---|
| 7.29 | Kd | 50.98 | nM | CHEMBL5653589 |
| 7.29 | ED50 | 50.98 | nM | CHEMBL5653589 |
| 5.13 | Kd | 7486 | nM | CHEMBL3752910 |
| 5.13 | ED50 | 7486 | 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 | 2148119: Binding affinity to human COPG2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0510 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148119: Binding affinity to human COPG2 incubated for 45 mins by Kinobead based pull down assay | kd | 7.4864 | uM |
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 3 |
| Valproic Acid | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| pirinixic acid | decreases expression, increases activity, affects binding | 1 |
| sodium arsenate | increases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Doxorubicin | affects expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Paraquat | decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | 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 |
|---|---|---|---|
| CHEMBL5651161 | Binding | Binding affinity to human COPG2 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.