ENDOV

gene
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Also known as FLJ35220

Summary

ENDOV (endonuclease V, HGNC:26640) is a protein-coding gene on chromosome 17q25.3, encoding Endonuclease V (Q8N8Q3). Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3’ to inosine.

Enables DNA binding activity; RNA endonuclease activity, producing 5’-phosphomonoesters; and single-stranded RNA binding activity. Predicted to be involved in DNA repair. Located in cytoplasmic stress granule and nucleolus.

Source: NCBI Gene 284131 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 80 total
  • MANE Select transcript: NM_173627

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26640
Approved symbolENDOV
Nameendonuclease V
Location17q25.3
Locus typegene with protein product
StatusApproved
AliasesFLJ35220
Ensembl geneENSG00000173818
Ensembl biotypeprotein_coding
OMIM619821
Entrez284131

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 24 protein_coding, 5 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 3 retained_intron

ENST00000323854, ENST00000517295, ENST00000517795, ENST00000518137, ENST00000518644, ENST00000518901, ENST00000518907, ENST00000519117, ENST00000519331, ENST00000520118, ENST00000520136, ENST00000520284, ENST00000520367, ENST00000520484, ENST00000520537, ENST00000520565, ENST00000520910, ENST00000521330, ENST00000521565, ENST00000521634, ENST00000521830, ENST00000521847, ENST00000522200, ENST00000522577, ENST00000522751, ENST00000523165, ENST00000523228, ENST00000523828, ENST00000523999, ENST00000572886, ENST00000858819, ENST00000858820, ENST00000858821, ENST00000858822, ENST00000858823

RefSeq mRNA: 5 — MANE Select: NM_173627 NM_001164637, NM_001164638, NM_001352760, NM_001352761, NM_173627

CCDS: CCDS54172, CCDS54173, CCDS54174

Canonical transcript exons

ENST00000518137 — 10 exons

ExonStartEnd
ENSE000021129978041516780415250
ENSE000024986268042977380429831
ENSE000034634968042503280425100
ENSE000034803968042352080423632
ENSE000034810978042220680422245
ENSE000034951918041565080415821
ENSE000035834318043613380438086
ENSE000035950208042182880421962
ENSE000036319808042859680428660
ENSE000037896468042549280425620

Expression profiles

Bgee: expression breadth ubiquitous, 219 present calls, max score 96.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4211 / max 71.7681, expressed in 1747 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
1632453.65521640
1632462.71461361
1632470.051310

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
kidney epitheliumUBERON:000481996.22gold quality
upper arm skinUBERON:000426395.32gold quality
parotid glandUBERON:000183193.84silver quality
right uterine tubeUBERON:000130292.32gold quality
cardiac muscle of right atriumUBERON:000337992.10gold quality
left ventricle myocardiumUBERON:000656691.79gold quality
lateral globus pallidusUBERON:000247691.68silver quality
vena cavaUBERON:000408791.18silver quality
right hemisphere of cerebellumUBERON:001489090.75gold quality
cerebellar hemisphereUBERON:000224590.49gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451190.37gold quality
cerebellar cortexUBERON:000212990.31gold quality
cortical plateUBERON:000534390.05gold quality
left testisUBERON:000453389.98gold quality
metanephros cortexUBERON:001053389.81gold quality
cerebellumUBERON:000203789.68gold quality
right testisUBERON:000453489.67gold quality
adenohypophysisUBERON:000219689.38gold quality
epithelial cell of pancreasCL:000008389.16gold quality
nucleus accumbensUBERON:000188289.06gold quality
body of uterusUBERON:000985389.04gold quality
pituitary glandUBERON:000000789.03gold quality
substantia nigra pars reticulataUBERON:000196689.00silver quality
cardia of stomachUBERON:000116288.98silver quality
endocervixUBERON:000045888.54gold quality
substantia nigra pars compactaUBERON:000196588.40silver quality
left ovaryUBERON:000211988.39gold quality
left lobe of thyroid glandUBERON:000112088.36gold quality
skin of legUBERON:000151188.26gold quality
cortex of kidneyUBERON:000122588.21gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes3.83
E-GEOD-100618no91.84

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting ENDOV, 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-7110-3P100.0073.182486
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-3692-3P99.9870.272139
HSA-MIR-1229-3P99.9766.49906
HSA-MIR-1236-3P99.9468.041695
HSA-MIR-7-1-3P99.9171.534384
HSA-MIR-7-2-3P99.9171.404394
HSA-MIR-129799.9173.413162
HSA-MIR-548E-5P99.8972.734486
HSA-MIR-6817-3P99.7968.352126
HSA-MIR-4694-3P99.7969.532640
HSA-MIR-26A-5P99.7873.522303
HSA-MIR-26B-5P99.7873.512305
HSA-MIR-6763-5P99.7664.681767
HSA-MIR-7856-5P99.7569.992901
HSA-MIR-3913-3P99.7466.53938
HSA-MIR-430699.7270.503630
HSA-MIR-5580-3P99.7069.412052
HSA-MIR-7-5P99.6770.531809
HSA-MIR-397599.6265.97697
HSA-MIR-7152-5P99.6069.332094
HSA-MIR-1212299.5669.331672
HSA-MIR-451B99.5568.281380
HSA-MIR-186-3P99.5166.241685
HSA-MIR-568399.3668.592083
HSA-MIR-10522-5P99.2668.502087
HSA-MIR-149-5P99.2567.161315
HSA-MIR-4477B99.2370.491733
HSA-MIR-122B-3P99.2168.901333
HSA-MIR-21-3P99.2168.951312

Literature-anchored findings (GeneRIF, showing 8)

  • ENDOV is localized in the cytoplasm and nucleoli of human cells. (PMID:23139746)
  • This previously unknown RNA incision activity may suggest a role for endonuclease V in normal RNA metabolism. (PMID:23912683)
  • hEndoV controls the fate of inosine-containing RNA in humans. (PMID:23912718)
  • ENDOV was significantly associated with schizophrenia. (PMID:25053281)
  • Human EndoV appears inactive on DNA, but has been shown to incise various RNA substrates containing inosine. [review] (PMID:25824682)
  • hEndoV is redistributed to stress granules as a strategy to create a local environment low in ATP to permit hEndoV activity. (PMID:27573237)
  • Inosine-specific ribonuclease activity of natural variants of human endonuclease V (PMID:27800608)
  • Base preference for inosine 3’-riboendonuclease activity of human endonuclease V: implications for cleavage of poly-A tails containing inosine. (PMID:38951658)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusEndovENSMUSG00000039850
rattus_norvegicusEndovENSRNOG00000003699

Protein

Protein identifiers

Endonuclease VQ8N8Q3 (reviewed: Q8N8Q3)

Alternative names: Inosine-specific endoribonuclease

All UniProt accessions (15): Q8N8Q3, A0A0G2JLD4, E5RFW0, E5RGZ9, E5RHX4, E5RII5, E5RJ92, H0YAY5, H0YBX8, H0YBZ5, I3L0L4, I3L1V3, I3L485, I3L4M6, I3L4V7

UniProt curated annotations — full annotation on UniProt →

Function. Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3’ to inosine. Active against both single-stranded and double-stranded RNAs. Has strong preference for single-stranded RNAs (ssRNAs) toward double-stranded RNAs (dsRNAs). Cleaves mRNAs and tRNAs containing inosine. Also able to cleave structure-specific dsRNA substrates containing the specific sites 5’-IIUI-3’ and 5’-UIUU-3’. Inosine is present in a number of RNAs following editing; the function of inosine-specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involved in antiviral response by removing the hyperedited long viral dsRNA genome that has undergone A-to-I editing. Binds branched DNA structures. Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3’ to inosine. Active against both single-stranded and double-stranded RNAs. Cleaves tRNAs containing inosine. Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3’ to inosine. Active against both single-stranded and double-stranded RNAs. Cleaves tRNAs containing inosine.

Subunit / interactions. Monomer. Interacts with PABPC1; the interaction is RNA-dependent and stimulates ENDOV activity.

Subcellular location. Cytoplasm. Nucleus. Nucleolus. Stress granule Cytoplasm. Stress granule.

Activity regulation. Inhibited by normal intracellular concentrations of ATP.

Similarity. Belongs to the endonuclease V family.

Isoforms (7)

UniProt IDNamesCanonical?
Q8N8Q3-11, hENDOV 282yes
Q8N8Q3-22
Q8N8Q3-33
Q8N8Q3-44
Q8N8Q3-55
Q8N8Q3-66, hENDOV 308
Q8N8Q3-77, hENDOV 309

RefSeq proteins (5): NP_001158109, NP_001158110, NP_001339689, NP_001339690, NP_775898* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR007581Endonuclease-VFamily

Pfam: PF04493

Enzyme classification (BRENDA):

  • EC 3.1.21.7 — deoxyribonuclease V (BRENDA: 17 organisms, 91 substrates, 22 inhibitors, 4 Km, 8 kcat entries)
  • EC 3.1.27.8 — Ribonuclease V (BRENDA: 2 organisms, 7 substrates, 0 inhibitors, 1 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
49-MER OLIGONUCLEOTIDE0.003–0.0244
POLY(A)0.03571
18-MER RNA OLIGONUCLEOTIDE CONTAINING INOSINE0
30-MER DNA/RNA CONTAINING INOSINE HYBRID0
ACUGGACA[RI][RI]U[RI]CUCCGAGG0

UniProt features (50 total): mutagenesis site 15, strand 10, helix 8, sequence variant 5, splice variant 5, binding site 2, chain 1, region of interest 1, sequence conflict 1, turn 1, site 1

Structure

Experimental structures (PDB)

2 structures.

PDBMethodResolution (Å)
6OZEX-RAY DIFFRACTION1.5
4NSPX-RAY DIFFRACTION2.3

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8N8Q3-F190.900.83

Functional residue map

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

Catalytic / active sites (1): 91 (interaction with target rna)

Ligand- & substrate-binding residues (2): 52; 126

Mutagenesis-validated functional residues (15):

PositionPhenotype
35–40does not gain activity against single- or double-stranded dna.
52abolishes ribonuclease activity.
57–60does not gain activity against single- or double-stranded dna.
90–93abolishes ability to bind branched dna and rna.
91abolishes ribonuclease activity without affecting ability to bind branched dna.
100abolishes ribonuclease activity.
115–119does not gain activity against single- or double-stranded dna.
161–166does not gain activity against single- or double-stranded dna.
171no effect on subcellular location or activity; when associated with a-174.
174no effect on subcellular location or activity; when associated with a-171.
225no significant effect on activity.
226no significant effect on activity.
22768% decrease in activity.
22846% decrease in activity.
248–249abolishes ability to bind branched dna and rna.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 94 (showing top): GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, KAUFFMANN_DNA_REPAIR_GENES, GOMF_RNA_ENDONUCLEASE_ACTIVITY, GOBP_DNA_DAMAGE_RESPONSE, GOMF_DNA_ENDONUCLEASE_ACTIVITY, GOCC_CYTOPLASMIC_STRESS_GRANULE, GOCC_RIBONUCLEOPROTEIN_GRANULE, GOCC_NUCLEOLUS, GOBP_DNA_METABOLIC_PROCESS, SCGGAAGY_ELK1_02, GOMF_DNA_ENDONUCLEASE_ACTIVITY_PRODUCING_5_PHOSPHOMONOESTERS, MGGAAGTG_GABP_B, GOMF_MAGNESIUM_ION_BINDING

GO Biological Process (1): DNA repair (GO:0006281)

GO Molecular Function (12): magnesium ion binding (GO:0000287), DNA binding (GO:0003677), single-stranded RNA binding (GO:0003727), DNA endonuclease activity, producing 5’-phosphomonoesters (GO:0016888), RNA endonuclease activity producing 5’-phosphomonoesters, hydrolytic mechanism (GO:0016891), RNA binding (GO:0003723), nuclease activity (GO:0004518), endonuclease activity (GO:0004519), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on ester bonds (GO:0016788), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleolus (GO:0005730), cytoplasm (GO:0005737), cytoplasmic stress granule (GO:0010494), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
nucleic acid binding2
hydrolase activity, acting on ester bonds2
DNA metabolic process1
DNA damage response1
metal ion binding1
RNA binding1
DNA endonuclease activity1
RNA endonuclease activity1
catalytic activity, acting on a nucleic acid1
nuclease activity1
binding1
catalytic activity1
hydrolase activity1
cation binding1
nuclear lumen1
intracellular membraneless organelle1
intracellular anatomical structure1
cellular anatomical structure1
cytoplasmic ribonucleoprotein granule1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

1632 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ENDOVITPAQ9BY32613
ENDOVMPGP29372600
ENDOVHENMT1Q5T8I9547
ENDOVAGO3Q9H9G7545
ENDOVAGO4Q9HCK5545
ENDOVOGG1P78554507
ENDOVUNGP13051505
ENDOVTARBP2Q15633505
ENDOVSND1Q7KZF4505
ENDOVGEMIN5Q8TEQ6497
ENDOVGEMIN6Q8WXD5496
ENDOVZFP36P26651490
ENDOVPABPC1P11940484
ENDOVPIWIL4Q7Z3Z4480
ENDOVGEMIN2O14893470

IntAct

9 interactions, top by confidence:

ABTypeScore
IMPDH1BCAT2psi-mi:“MI:0914”(association)0.530
ZNRD2CCDC85Cpsi-mi:“MI:0914”(association)0.530
ENDOVVWA8psi-mi:“MI:0914”(association)0.350
ZNRD2KRBA1psi-mi:“MI:0914”(association)0.350
IMPDH1MGST3psi-mi:“MI:0914”(association)0.350
ENDOVPDCLpsi-mi:“MI:0914”(association)0.350
ENDOVPRPSAP2psi-mi:“MI:0915”(physical association)0.000
NELFCDENDOVpsi-mi:“MI:0915”(physical association)0.000

BioGRID (43): BBS2 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), ANKRD40 (Affinity Capture-MS), PDCL (Affinity Capture-MS), SEPHS2 (Affinity Capture-MS), RNF31 (Affinity Capture-MS), TSC22D3 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), ENDOV (Affinity Capture-MS), SEPHS2 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), RNF31 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), TSC22D3 (Affinity Capture-MS)

ESM2 similar proteins: A0JNU3, A1A4L8, A2BDX3, A5GFZ6, A6NK58, A6QQ74, O19179, O43542, O60294, O95336, O95396, P19971, P85971, Q02846, Q05922, Q08DH8, Q0VFH3, Q28F19, Q29R99, Q2TBQ8, Q2V057, Q3SZ07, Q3UQ84, Q561R2, Q5ZKI2, Q68FW7, Q6PAT0, Q6QHF9, Q86U10, Q86WU2, Q86Y79, Q8BW00, Q8IVS8, Q8N8Q3, Q8R123, Q8VCZ9, Q8VDG5, Q8WV74, Q8WVB3, Q8WZ82

Diamond homologs: A0B8N3, A1AIG9, A1JIJ2, A1RY04, A4W5C1, A5FRP8, A5GD74, A5IL77, A5UWX7, A6LNA6, A6TGQ5, A7FNH1, A7MJ90, A7NSC5, A7ZUL4, A8A798, A8AKS5, A8G8F8, A9BHL9, A9MHD1, A9N0L0, B0RQR6, B1IUP9, B1LAF7, B1LNV0, B1XC01, B2IWL4, B2SRM7, B2TWI5, B2VG82, B4EYT7, B4T100, B4TCT7, B4TQK8, B5BJR7, B5F1I1, B5FQL3, B5QYF3, B5RFI6, B5XYE0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance62
Likely benign1
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2644 predictions. Top by Δscore:

VariantEffectΔscore
17:80423630:AAG:Adonor_loss1.0000
17:80423631:AGGTG:Adonor_loss1.0000
17:80423633:G:Cdonor_loss1.0000
17:80423634:T:Gdonor_loss1.0000
17:80425101:G:Adonor_loss1.0000
17:80425102:T:Adonor_loss1.0000
17:80425619:AG:Adonor_loss1.0000
17:80425620:GG:Gdonor_loss1.0000
17:80415393:G:GTdonor_gain0.9900
17:80415399:G:GTdonor_gain0.9900
17:80415411:G:GTdonor_gain0.9900
17:80415412:A:Tdonor_gain0.9900
17:80415797:G:GAdonor_gain0.9900
17:80417728:T:Aacceptor_gain0.9900
17:80423514:T:TAacceptor_gain0.9900
17:80423516:GCA:Gacceptor_loss0.9900
17:80423517:CAGG:Cacceptor_loss0.9900
17:80423518:A:AGacceptor_gain0.9900
17:80423518:A:ATacceptor_loss0.9900
17:80423518:AG:Aacceptor_gain0.9900
17:80423519:G:GAacceptor_gain0.9900
17:80423519:GG:Gacceptor_gain0.9900
17:80423519:GGCT:Gacceptor_gain0.9900
17:80423629:GAAG:Gdonor_gain0.9900
17:80425023:A:AGacceptor_gain0.9900
17:80425024:T:Gacceptor_gain0.9900
17:80425027:TCCA:Tacceptor_loss0.9900
17:80425028:CCAG:Cacceptor_loss0.9900
17:80425029:CAGAT:Cacceptor_loss0.9900
17:80425030:A:AGacceptor_gain0.9900

AlphaMissense

1788 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:80422219:A:TD126V0.995
17:80422228:G:AG129E0.995
17:80423581:G:CK155N0.995
17:80423581:G:TK155N0.995
17:80422227:G:TG129W0.993
17:80415699:T:AW36R0.992
17:80415699:T:CW36R0.992
17:80415756:T:CF55L0.992
17:80415758:C:AF55L0.992
17:80415758:C:GF55L0.992
17:80421891:T:CF98L0.992
17:80421893:C:AF98L0.992
17:80421893:C:GF98L0.992
17:80415749:C:AD52E0.991
17:80415749:C:GD52E0.991
17:80421958:C:AP120H0.991
17:80422220:T:AD126E0.990
17:80422220:T:GD126E0.990
17:80422222:G:AG127E0.990
17:80422228:G:TG129V0.990
17:80423526:G:AG137E0.990
17:80423535:G:AC140Y0.990
17:80423544:G:AG143D0.990
17:80425615:C:AR237S0.990
17:80415739:G:AG49E0.989
17:80421882:T:CF95L0.989
17:80421884:C:AF95L0.989
17:80421884:C:GF95L0.989
17:80422236:C:GH132D0.989
17:80423536:C:GC140W0.989

dbSNP variants (sampled 300 via entrez): RS1000082669 (17:80423936 G>A), RS1000246146 (17:80428012 C>T), RS1000378664 (17:80437498 G>A), RS1000473972 (17:80427591 A>T), RS1000536666 (17:80433648 C>T), RS1000545895 (17:80427377 C>T), RS1000559233 (17:80423749 C>G,T), RS1000590643 (17:80434137 C>A,T), RS1000665565 (17:80432837 C>T), RS1000711916 (17:80438491 C>T), RS1000834115 (17:80424946 C>G,T), RS1000839423 (17:80415355 C>A,G,T), RS1000969571 (17:80433876 G>C), RS1000976654 (17:80420796 G>C), RS1000980010 (17:80418897 C>T)

Disease associations

OMIM: gene MIM:619821 | disease phenotypes: MIM:607151

GenCC curated gene-disease

Mondo (1): Moyamoya disease 2 (MONDO:0011784)

Orphanet (1): Moyamoya disease (Orphanet:2573)

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST009204_12Total intracranial volume9.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004886intracranial volume measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
C536992Moyamoya disease 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

ChemicalActions (top 5)PubMed papers
aristolochic acid Iincreases expression1
FR900359increases phosphorylation1
triphenyl phosphateaffects expression1
sodium arseniteincreases expression1
benzo(e)pyrenedecreases methylation1
ferrous chloridedecreases expression1
abrineincreases expression1
Grape Seed Proanthocyanidinsdecreases expression, affects cotreatment1
Acetaminophendecreases expression1
Benzo(a)pyreneaffects methylation1
Catechindecreases expression, affects cotreatment1
Dichlorodiphenyl Dichloroethylenedecreases expression1
Methapyrilenedecreases methylation1
Phthalic Acidsincreases methylation1
Silicon Dioxidedecreases expression1
Smokedecreases expression1
Valproic Acidincreases methylation1
Aflatoxin B1decreases methylation1
Antirheumatic Agentsincreases expression1
Particulate Matterincreases expression1

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D9E9Ubigene HEK293 ENDOV KOTransformed cell lineFemale
CVCL_SM05HAP1 ENDOV (-)Cancer cell lineMale

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): Moyamoya disease 2