CPNE8

gene
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Summary

CPNE8 (copine 8, HGNC:23498) is a protein-coding gene on chromosome 12q12, encoding Copine-8 (Q86YQ8). Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.

Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus.

Source: NCBI Gene 144402 — RefSeq curated summary.

At a glance

  • GWAS associations: 21
  • Clinical variants (ClinVar): 57 total
  • MANE Select transcript: NM_153634

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:23498
Approved symbolCPNE8
Namecopine 8
Location12q12
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000139117
Ensembl biotypeprotein_coding
Entrez144402

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 5 protein_coding_CDS_not_defined

ENST00000331366, ENST00000360449, ENST00000538596, ENST00000546603, ENST00000547417, ENST00000549842, ENST00000550863, ENST00000551855, ENST00000552259, ENST00000862791

RefSeq mRNA: 1 — MANE Select: NM_153634 NM_153634

CCDS: CCDS8733

Canonical transcript exons

ENST00000331366 — 20 exons

ExonStartEnd
ENSE000010983493876763538767738
ENSE000013269213890543738905591
ENSE000016289673872377238723833
ENSE000016785863868549038685617
ENSE000023773393872484638724899
ENSE000023944333865220338654070
ENSE000034708443883991638839955
ENSE000034838693867571738675774
ENSE000035082383887300438873050
ENSE000035664353884855938848662
ENSE000035686653876211238762216
ENSE000035872183887447138874511
ENSE000035944263882937938829455
ENSE000036102323876084738760888
ENSE000036182383870287538702921
ENSE000036191663877623838776301
ENSE000036430563873028338730358
ENSE000036501043869365738693838
ENSE000036557833867072938670802
ENSE000036597313867745238677554

Expression profiles

Bgee: expression breadth ubiquitous, 233 present calls, max score 92.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.5059 / max 428.2626, expressed in 1577 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter IDTPM avgSamples expressed
1304279.16171468
1304285.68551424
1304290.8082418
1304330.2684117
1304300.2507112
1304320.214587
1304350.086025
1304310.030811

Top tissues by expression

246 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
epithelial cell of pancreasCL:000008392.05gold quality
calcaneal tendonUBERON:000370190.69gold quality
spermCL:000001990.43gold quality
monocyteCL:000057689.15gold quality
leukocyteCL:000073888.52gold quality
right atrium auricular regionUBERON:000663187.37gold quality
cardiac atriumUBERON:000208187.24gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047387.10gold quality
right lungUBERON:000216787.03gold quality
pigmented layer of retinaUBERON:000178286.60gold quality
subcutaneous adipose tissueUBERON:000219086.29gold quality
right lobe of liverUBERON:000111486.01gold quality
omental fat padUBERON:001041486.01gold quality
peritoneumUBERON:000235885.99gold quality
rectumUBERON:000105285.59gold quality
upper lobe of left lungUBERON:000895285.42gold quality
upper lobe of lungUBERON:000894885.29gold quality
colonic epitheliumUBERON:000039785.21gold quality
adipose tissue of abdominal regionUBERON:000780885.14gold quality
pericardiumUBERON:000240784.48gold quality
endothelial cellCL:000011583.96gold quality
smooth muscle tissueUBERON:000113583.88gold quality
mucosa of stomachUBERON:000119983.86gold quality
lungUBERON:000204883.80gold quality
cardiac muscle of right atriumUBERON:000337983.80gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099183.59gold quality
descending thoracic aortaUBERON:000234583.05gold quality
tibial arteryUBERON:000761082.95gold quality
popliteal arteryUBERON:000225082.93gold quality
dorsolateral prefrontal cortexUBERON:000983482.85gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 4.

ExperimentMarker?Max mean expression
E-GEOD-76312yes622.77
E-GEOD-81608yes604.99
E-CURD-119yes25.97
E-ANND-3yes25.21
E-GEOD-83139no547.98
E-MTAB-7249no252.68
E-MTAB-6678no3.39

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

184 targeting CPNE8, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-8485100.0077.574731
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-340-5P100.0072.504437
HSA-MIR-3163100.0077.238605
HSA-MIR-4692100.0067.322066
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-126-5P100.0072.713180
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-451499.9967.101870
HSA-MIR-548AW99.9972.573559
HSA-MIR-4789-3P99.9970.752484
HSA-MIR-1213699.9872.815713
HSA-MIR-548N99.9871.944170
HSA-MIR-4482-3P99.9872.503147
HSA-MIR-32-5P99.9875.211964
HSA-MIR-92A-3P99.9875.211960
HSA-MIR-92B-3P99.9875.251955
HSA-MIR-25-3P99.9874.601817
HSA-MIR-363-3P99.9874.721821
HSA-MIR-367-3P99.9874.831819
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882

Literature-anchored findings (GeneRIF, showing 1)

  • CPNE8 Promotes Gastric Cancer Metastasis by Modulating Focal Adhesion Pathway and Tumor Microenvironment. (PMID:35982908)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioCPNE8ENSDARG00000102191
mus_musculusCpne8ENSMUSG00000052560
rattus_norvegicusCpne8ENSRNOG00000026128
caenorhabditis_elegansWBGENE00001577
caenorhabditis_elegansWBGENE00012128

Paralogs (8): CPNE3 (ENSG00000085719), CPNE6 (ENSG00000100884), CPNE5 (ENSG00000124772), CPNE2 (ENSG00000140848), CPNE9 (ENSG00000144550), CPNE7 (ENSG00000178773), CPNE4 (ENSG00000196353), CPNE1 (ENSG00000214078)

Protein

Protein identifiers

Copine-8Q86YQ8 (reviewed: Q86YQ8)

Alternative names: Copine VIII

All UniProt accessions (3): Q86YQ8, E7ENV7, F8VZB5

UniProt curated annotations — full annotation on UniProt →

Function. Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.

Cofactor. Binds 3 Ca(2+) ions per C2 domain.

Similarity. Belongs to the copine family.

Isoforms (2)

UniProt IDNamesCanonical?
Q86YQ8-11yes
Q86YQ8-22

RefSeq proteins (1): NP_705898* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000008C2_domDomain
IPR002035VWF_ADomain
IPR010734Copine_CDomain
IPR035892C2_domain_sfHomologous_superfamily
IPR036465vWFA_dom_sfHomologous_superfamily
IPR037768C2B_CopineDomain
IPR045052CopineFamily

Pfam: PF00168, PF07002

UniProt features (27 total): binding site 20, domain 3, chain 1, modified residue 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q86YQ8-F188.190.67

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (20): 101; 101; 104; 109; 111; 111; 173; 173; 179; 235; 235; 237

Post-translational modifications (1): 260

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

IDPathway
R-HSA-9013148CDC42 GTPase cycle
R-HSA-9013405RHOD GTPase cycle
R-HSA-9013406RHOQ GTPase cycle
R-HSA-9013409RHOJ GTPase cycle

MSigDB gene sets: 230 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, RNGTGGGC_UNKNOWN, AP1_01, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_GROWTH, chr12q12, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_NEUROGENESIS, GGGTGGRR_PAX4_03, GOBP_RESPONSE_TO_METAL_ION, WANG_RESPONSE_TO_BEXAROTENE_DN, GOBP_POSITIVE_REGULATION_OF_CELL_GROWTH

GO Biological Process (2): cellular response to calcium ion (GO:0071277), positive regulation of dendrite extension (GO:1903861)

GO Molecular Function (3): calcium-dependent phospholipid binding (GO:0005544), metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
RHO GTPase cycle4

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
response to calcium ion1
cellular response to metal ion1
positive regulation of cell growth1
positive regulation of developmental growth1
dendrite extension1
regulation of dendrite extension1
phospholipid binding1
cation binding1
binding1
membrane1
cell periphery1
extracellular vesicle1

Protein interactions and networks

STRING

1002 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CPNE8VSTM2LQ96N03476
CPNE8POPDC3Q9HBV1462
CPNE8ZNF385BQ569K4458
CPNE8RCAN2Q14206427
CPNE8CBLN2Q8IUK8426
CPNE8ANLNQ9NQW6425
CPNE8SMIM12Q96EX1419
CPNE8SYT10Q6XYQ8418
CPNE8GNG4P50150416
CPNE8SPON1Q9HCB6410
CPNE8CNTNAP2Q9UHC6410
CPNE8CNTN4Q8IWV2400
CPNE8MSRB3Q8IXL7396
CPNE8NR4A2P43354380
CPNE8SERGEFQ9UGK8379

IntAct

60 interactions, top by confidence:

ABTypeScore
SORBS3CPNE8psi-mi:“MI:0915”(physical association)0.560
CPNE8NECAB1psi-mi:“MI:0915”(physical association)0.560
SLC25A41NUDT19psi-mi:“MI:0914”(association)0.530
TMEM185ATSPAN6psi-mi:“MI:0914”(association)0.530
NRASESYT2psi-mi:“MI:2364”(proximity)0.480
SCRIBCPNE8psi-mi:“MI:0407”(direct interaction)0.440
CPNE8MPIpsi-mi:“MI:0915”(physical association)0.400
CPNE5CPNE8psi-mi:“MI:0915”(physical association)0.400
CTDSPL2ELOCpsi-mi:“MI:0914”(association)0.350
ARRB1psi-mi:“MI:0914”(association)0.350
RNF213GNB1psi-mi:“MI:0914”(association)0.350
CSPP1DCTN6psi-mi:“MI:0914”(association)0.350
CPNE8Bgnpsi-mi:“MI:0914”(association)0.350
CSAG2CAMK2Dpsi-mi:“MI:0914”(association)0.350
ANLNUBA6psi-mi:“MI:0914”(association)0.350
MCM7VPS37Cpsi-mi:“MI:0914”(association)0.350
ZDHHC23VPS37Cpsi-mi:“MI:0914”(association)0.350
SRSF7IGF2BP3psi-mi:“MI:0914”(association)0.350
SNAPC1RP2psi-mi:“MI:0914”(association)0.350
OGDHLRP2psi-mi:“MI:0914”(association)0.350
CACYBPVPS37Cpsi-mi:“MI:0914”(association)0.350
CACYBPPSMD11psi-mi:“MI:0914”(association)0.350
CAPRIN1VPS37Cpsi-mi:“MI:0914”(association)0.350
CFL2VPS37Cpsi-mi:“MI:0914”(association)0.350
CSDE1VPS37Cpsi-mi:“MI:0914”(association)0.350
EIF4A1SNAP23psi-mi:“MI:0914”(association)0.350
TSC22D3VPS37Cpsi-mi:“MI:0914”(association)0.350

BioGRID (126): CPNE8 (Affinity Capture-RNA), CPNE8 (Affinity Capture-RNA), CPNE8 (Affinity Capture-RNA), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS), EIF3I (Co-fractionation), NDUFS1 (Co-fractionation), CPNE8 (Proximity Label-MS), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS)

ESM2 similar proteins: A0JJX5, A2WWV5, A2X479, B6ETT4, B8XCH5, O49303, O49435, O64492, O65554, P59108, Q0JBH9, Q0JHU5, Q0VE82, Q1RLL3, Q25AG5, Q5BJS7, Q6YWF1, Q7XA06, Q84TJ7, Q86YQ8, Q8BLR2, Q8IYJ1, Q8L706, Q8LFN9, Q8RXU9, Q944C1, Q96A23, Q96FN4, Q9C6B7, Q9C8S6, Q9C8Y2, Q9DC53, Q9FHP6, Q9FI32, Q9FIK8, Q9FJG3, Q9FL59, Q9FVJ3, Q9LP65, Q9LVH4

Diamond homologs: A8WMY4, D4A1R8, H1UBN0, H2KYS8, O75131, O95741, P59108, Q08DB4, Q0VE82, Q1RLL3, Q1ZXB3, Q2KHY1, Q54FY7, Q54P51, Q55GG1, Q5BJS7, Q5R4W6, Q5RAE1, Q5S1W2, Q5XQC7, Q7YXU4, Q86K21, Q86YQ8, Q8BLR2, Q8BT60, Q8C166, Q8IYJ1, Q8JZW4, Q941L3, Q96A23, Q96FN4, Q99829, Q9DC53, Q9HCH3, Q9UBL6, Q9XUB9, Q9Z140, A0JJX5, Q09219, Q12466

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 62 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:

PathwayPartnersFoldFDR
Signaling by RAF1 mutants534.0×1e-05
Signaling by moderate kinase activity BRAF mutants530.9×1e-05
Paradoxical activation of RAF signaling by kinase inactive BRAF530.9×1e-05
Signaling downstream of RAS mutants530.9×1e-05
Signaling by BRAF and RAF1 fusions520.8×6e-05
RAF/MAP kinase cascade710.4×6e-05

GO biological processes:

GO termPartnersFoldFDR
ubiquitin-dependent protein catabolic process68.1×7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

57 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance39
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4366 predictions. Top by Δscore:

VariantEffectΔscore
12:38654067:CAAA:Cacceptor_gain1.0000
12:38670723:TCTTA:Tdonor_loss1.0000
12:38670724:CTTA:Cdonor_loss1.0000
12:38670725:TTA:Tdonor_loss1.0000
12:38670726:TA:Tdonor_loss1.0000
12:38670728:CCTG:Cdonor_gain1.0000
12:38670798:CATTG:Cacceptor_gain1.0000
12:38670799:ATTG:Aacceptor_gain1.0000
12:38670800:TTG:Tacceptor_gain1.0000
12:38670801:TG:Tacceptor_gain1.0000
12:38670801:TGC:Tacceptor_loss1.0000
12:38670803:C:Aacceptor_loss1.0000
12:38670803:C:CCacceptor_gain1.0000
12:38670804:T:Cacceptor_gain1.0000
12:38670805:T:Cacceptor_gain1.0000
12:38677450:A:ACdonor_gain1.0000
12:38677451:C:CCdonor_gain1.0000
12:38679583:A:ACdonor_gain1.0000
12:38679584:C:CCdonor_gain1.0000
12:38685628:T:Cacceptor_gain1.0000
12:38702867:ACACT:Adonor_loss1.0000
12:38702868:CACT:Cdonor_loss1.0000
12:38702869:ACTC:Adonor_loss1.0000
12:38702870:CT:Cdonor_loss1.0000
12:38702872:C:CGdonor_loss1.0000
12:38702873:A:ACdonor_gain1.0000
12:38702873:A:AGdonor_loss1.0000
12:38702874:C:CCdonor_gain1.0000
12:38702874:C:Tdonor_loss1.0000
12:38705208:T:TAdonor_gain1.0000

AlphaMissense

3716 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:38654068:A:CF503L1.000
12:38654068:A:TF503L1.000
12:38654070:A:GF503L1.000
12:38670790:A:GL482S1.000
12:38675721:A:CF476L1.000
12:38675721:A:TF476L1.000
12:38675723:A:GF476L1.000
12:38675734:C:TG472E1.000
12:38675735:C:GG472R1.000
12:38675735:C:TG472R1.000
12:38675740:C:TG470D1.000
12:38675741:C:GG470R1.000
12:38675746:A:TI468K1.000
12:38677498:T:AD443V1.000
12:38677510:A:GL439P1.000
12:38677513:A:GL438P1.000
12:38693705:A:CF365L1.000
12:38693705:A:TF365L1.000
12:38693707:A:GF365L1.000
12:38693709:C:TG364E1.000
12:38702876:G:CN320K1.000
12:38702876:G:TN320K1.000
12:38702886:G:AT317I1.000
12:38702891:A:CD315E1.000
12:38702891:A:TD315E1.000
12:38702892:T:AD315V1.000
12:38730344:C:TG246E1.000
12:38762164:A:GW210R1.000
12:38762164:A:TW210R1.000
12:38653992:C:GA529P0.999

dbSNP variants (sampled 300 via entrez): RS1000011004 (12:38853922 C>A,T), RS1000031331 (12:38808191 G>A), RS1000031880 (12:38902050 G>A), RS1000034419 (12:38664631 G>A), RS1000039302 (12:38713292 C>T), RS1000060097 (12:38769575 G>C), RS1000091690 (12:38752526 A>G), RS1000095394 (12:38671396 C>A), RS1000103417 (12:38682549 A>G), RS1000104751 (12:38766458 T>A), RS1000112533 (12:38866920 G>A,T), RS1000116432 (12:38707277 G>A), RS1000151593 (12:38791411 T>A), RS1000154216 (12:38682854 T>C), RS1000161529 (12:38661749 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

21 associations (top):

StudyTraitp-value
GCST001969_21Heart rate4.000000e-09
GCST002783_441Body mass index1.000000e-07
GCST002783_517Body mass index7.000000e-08
GCST004139_14Bipolar disorder4.000000e-07
GCST005788_26Heart rate response to recovery post exercise2.000000e-07
GCST005789_22Resting heart rate8.000000e-07
GCST006304_11Irritable bowel syndrome3.000000e-06
GCST007565_158Morning person5.000000e-43
GCST007565_196Morning person6.000000e-29
GCST007565_207Morning person2.000000e-39
GCST007565_210Morning person1.000000e-40
GCST007565_63Morning person1.000000e-17
GCST007565_76Morning person2.000000e-43
GCST007565_78Morning person4.000000e-43
GCST007576_335Chronotype2.000000e-43
GCST007672_23-month functional outcome in ischaemic stroke (modified Rankin score)5.000000e-07
GCST007672_93-month functional outcome in ischaemic stroke (modified Rankin score)6.000000e-07
GCST008097_2Bisphosphonate-associated atypical femoral fracture2.000000e-06
GCST008403_9Arterial stiffness index3.000000e-06
GCST008522_57Bitter alcoholic beverage consumption8.000000e-07
GCST010989_38Body size at age 103.000000e-12

EFO canonical traits (9, from GWAS)

EFO IDTrait name
EFO:0004340body mass index
EFO:0009185heart rate response to recovery post exercise
EFO:0008328chronotype measurement
EFO:0009603stroke outcome severity measurement
EFO:0009958response to bisphosphonate
EFO:0009960atypical femoral fracture
EFO:0004517arterial stiffness measurement
EFO:0010092bitter alcoholic beverage consumption measurement
EFO:0009819comparative body size at age 10, self-reported

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression6
sodium arsenitedecreases expression, increases abundance, increases expression4
Cyclosporineincreases expression3
bisphenol Aaffects cotreatment, decreases methylation, decreases expression2
potassium chromate(VI)affects cotreatment, decreases expression2
Arsenicincreases abundance, increases expression2
Phenylmercuric Acetateaffects cotreatment, increases expression2
Tobacco Smoke Pollutionaffects expression, decreases expression2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression2
aristolochic acid Idecreases expression1
sodium arsenateincreases abundance, increases expression1
tris(2-butoxyethyl) phosphateaffects expression1
epigallocatechin gallatedecreases expression, affects cotreatment1
di-n-butylphosphoric acidaffects expression1
chromium hexavalent iondecreases expression1
perfluorooctane sulfonic aciddecreases expression1
K 7174increases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
dorsomorphinincreases expression, affects cotreatment1
bisphenol Sdecreases methylation1
jinfukangdecreases expression1
incobotulinumtoxinAincreases expression1
NSC 689534affects binding, increases expression1
Resveratrolaffects cotreatment, increases expression1
Temozolomidedecreases expression1
Zoledronic Aciddecreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Vorinostatincreases expression1
Benzo(a)pyreneincreases expression1
Cadmiumdecreases expression, increases abundance1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): irritable bowel syndrome