ZBTB2

gene
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Also known as KIAA1483ZNF437bA351K16.2

Summary

ZBTB2 (zinc finger and BTB domain containing 2, HGNC:20868) is a protein-coding gene on chromosome 6q25.1, encoding Zinc finger and BTB domain-containing protein 2 (Q8N680). May be involved in transcriptional regulation.

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be active in nucleoplasm.

Source: NCBI Gene 57621 — RefSeq curated summary.

At a glance

  • GWAS associations: 4
  • Clinical variants (ClinVar): 51 total
  • Druggable target: yes
  • MANE Select transcript: NM_020861

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20868
Approved symbolZBTB2
Namezinc finger and BTB domain containing 2
Location6q25.1
Locus typegene with protein product
StatusApproved
AliasesKIAA1483, ZNF437, bA351K16.2
Ensembl geneENSG00000181472
Ensembl biotypeprotein_coding
OMIM616595
Entrez57621

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 10 protein_coding

ENST00000325144, ENST00000869305, ENST00000869306, ENST00000869307, ENST00000869308, ENST00000869309, ENST00000869310, ENST00000936201, ENST00000936202, ENST00000936203

RefSeq mRNA: 1 — MANE Select: NM_020861 NM_020861

CCDS: CCDS5231

Canonical transcript exons

ENST00000325144 — 3 exons

ExonStartEnd
ENSE00001247407151391420151391559
ENSE00001247421151364115151366892
ENSE00001444138151373465151373649

Expression profiles

Bgee: expression breadth ubiquitous, 231 present calls, max score 97.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.3303 / max 150.5887, expressed in 1773 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter IDTPM avgSamples expressed
761836.42341644
761841.3886914
761861.3114930
761850.7395479
761800.5501196
761880.4898257
761870.4276206

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
secondary oocyteCL:000065597.47gold quality
oocyteCL:000002393.24gold quality
epithelial cell of pancreasCL:000008391.24gold quality
spermCL:000001986.08gold quality
granulocyteCL:000009484.43gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099184.06gold quality
leukocyteCL:000073883.99gold quality
monocyteCL:000057683.73gold quality
tibialis anteriorUBERON:000138582.02gold quality
lymph nodeUBERON:000002982.01gold quality
smooth muscle tissueUBERON:000113581.83gold quality
ganglionic eminenceUBERON:000402381.80gold quality
cortical plateUBERON:000534381.69gold quality
hindlimb stylopod muscleUBERON:000425281.41gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047381.33gold quality
thyroid glandUBERON:000204681.12gold quality
gastrocnemiusUBERON:000138881.10gold quality
stromal cell of endometriumCL:000225581.04gold quality
deltoidUBERON:000147680.88silver quality
gingival epitheliumUBERON:000194980.83silver quality
popliteal arteryUBERON:000225080.76gold quality
tibial arteryUBERON:000761080.76gold quality
ventricular zoneUBERON:000305380.75gold quality
muscle of legUBERON:000138380.74gold quality
rectumUBERON:000105280.44gold quality
left lobe of thyroid glandUBERON:000112080.37gold quality
olfactory segment of nasal mucosaUBERON:000538680.31gold quality
right lobe of thyroid glandUBERON:000111980.00gold quality
gingivaUBERON:000182879.98silver quality
ileal mucosaUBERON:000033179.72gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes3.04

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

4 targets.

TargetRegulation
ARF1Repression
CDKN1ARepression
MDM2Activation
TP53Repression

miRNA regulators (miRDB)

171 targeting ZBTB2, 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-4262100.0073.263931
HSA-MIR-8485100.0077.574731
HSA-MIR-4776-3P100.0068.731340
HSA-MIR-4283100.0066.422097
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-4692100.0067.322066
HSA-MIR-126-5P100.0072.713180
HSA-MIR-453199.9969.703181
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-366299.9973.825684
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-451499.9967.101870
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-1213699.9872.815713
HSA-MIR-56899.9869.862084
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-3617-3P99.9867.86918
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-50799.9770.111915
HSA-MIR-146A-5P99.9668.93988
HSA-MIR-146B-5P99.9669.13977
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-365899.9673.874379

Literature-anchored findings (GeneRIF, showing 13)

  • ZBTB2 is a potential proto-oncogenic master control gene of the p53 pathway and, in particular, is a potent transcription repressor of the cell cycle arrest gene p21 by inhibiting p53 and Sp1 (PMID:19380588)
  • ZBTB2 being considered as a multifunctional cell proliferation activator, notably through p21 repression, this work points out new epigenetic processes potentially involved in carcinogenesis. (PMID:24607898)
  • ZBTB2 may increase cell proliferation by reprogramming glucose metabolic pathways to favor glycolysis by upregulating PDK4 expression via repression of RelA/p65 expression (PMID:25609694)
  • long noncoding RNA CALML3-AS1 promotes tumorigenesis of bladder cancer via regulating ZBTB2 by suppression of microRNA-4316 (PMID:30177388)
  • MicroRNA-488-3p inhibits proliferation and induces apoptosis by targeting ZBTB2 in esophageal squamous cell carcinoma. (PMID:31243806)
  • MiR-4282 inhibits tumor progression through down-regulation of ZBTB2 by targeting LIN28B in oral squamous cell carcinoma. (PMID:31970774)
  • OIP5-AS1 promotes the progression of gastric cancer cells via the miR-153-3p/ZBTB2 axis. (PMID:32196594)
  • ZBTB2 protein is a new partner of the Nucleosome Remodeling and Deacetylase (NuRD) complex. (PMID:33301849)
  • ZBTB2 links p53 deficiency to HIF-1-mediated hypoxia signaling to promote cancer aggressiveness. (PMID:36341521)
  • ZBTB2 is Recruited to a Specific Subset of HIF-1 Target Loci to Facilitate Full Gene Expression Under Hypoxia. (PMID:37257772)
  • The novel circ_0004674/miR-139-5p/ZBTB2 regulatory cascade inhibits the development of oral squamous cell carcinoma. (PMID:38665011)
  • ZBTB7A forms a heterodimer with ZBTB2 and inhibits ZBTB2 homodimerization required for full activation of HIF-1. (PMID:39197198)
  • APC and ZBTB2 May Mediate M2 Macrophage Infiltration to Promote the Development of Renal Fibrosis: A Bioinformatics Analysis. (PMID:39328595)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioznfl2aENSDARG00000008333
danio_reriozbtb2bENSDARG00000028086
danio_reriozbtb2aENSDARG00000044038
mus_musculusZbtb2ENSMUSG00000075327
rattus_norvegicusZbtb2ENSRNOG00000019544

Protein

Protein identifiers

Zinc finger and BTB domain-containing protein 2Q8N680 (reviewed: Q8N680)

All UniProt accessions (1): Q8N680

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

RefSeq proteins (1): NP_065912* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000210BTB/POZ_domDomain
IPR011333SKP1/BTB/POZ_sfHomologous_superfamily
IPR013087Znf_C2H2_typeDomain
IPR036236Znf_C2H2_sfHomologous_superfamily

Pfam: PF00096, PF00651

UniProt features (17 total): cross-link 6, zinc finger region 4, compositionally biased region 2, chain 1, domain 1, sequence conflict 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8N680-F157.510.06

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 (7): 147, 154, 362, 465, 505, 506, 341

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 196 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, TAATAAT_MIR126, CTATGCA_MIR153, WEI_MYCN_TARGETS_WITH_E_BOX, chr6q25, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_CYTOKINE_PRODUCTION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN, TGAGATT_MIR216, TAATGTG_MIR323, SOX5_01, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, ZHENG_BOUND_BY_FOXP3, WGTTNNNNNAAA_UNKNOWN

GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of cytokine production (GO:0001817), regulation of immune system process (GO:0002682)

GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), identical protein binding (GO:0042802), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleoplasm (GO:0005654), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
RNA polymerase II transcription regulatory region sequence-specific DNA binding2
regulation of transcription by RNA polymerase II1
transcription by RNA polymerase II1
negative regulation of DNA-templated transcription1
cytokine production1
regulation of gene expression1
regulation of multicellular organismal process1
immune system process1
regulation of biological process1
cis-regulatory region sequence-specific DNA binding1
negative regulation of transcription by RNA polymerase II1
DNA-binding transcription factor activity, RNA polymerase II-specific1
DNA-binding transcription repressor activity1
transition metal ion binding1
protein binding1
double-stranded DNA binding1
sequence-specific DNA binding1
nucleic acid binding1
binding1
cation binding1
nuclear lumen1
cellular anatomical structure1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

1496 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZBTB2RMND1Q9NWS8655
ZBTB2DCPH1Q9H993633
ZBTB2CCDC170Q8IYT3584
ZBTB2UBN2Q6ZU65566
ZBTB2CABIN1Q9Y6J0553
ZBTB2ZNF639Q9UID6487
ZBTB2SP1P08047484
ZBTB2MTHFD1LQ6UB35451
ZBTB2KLHL15Q96M94447
ZBTB2PLEKHG1Q9ULL1447
ZBTB2PPP1R14CQ8TAE6406
ZBTB2TMEM33P57088396
ZBTB2IER5LQ5T953383
ZBTB2ZBTB7AO95365372
ZBTB2AKAP12Q02952367

IntAct

158 interactions, top by confidence:

ABTypeScore
HDAC2KDM1Apsi-mi:“MI:0914”(association)0.890
PRDM14CBFA2T2psi-mi:“MI:0914”(association)0.860
HDAC1CDK2AP1psi-mi:“MI:0914”(association)0.840
RBBP7CDK2AP1psi-mi:“MI:0914”(association)0.840
HDAC1TNRC18psi-mi:“MI:0914”(association)0.790
RBBP4CDK2AP1psi-mi:“MI:0914”(association)0.790
P4HBP4HA2psi-mi:“MI:0914”(association)0.740
HDAC1ZNF609psi-mi:“MI:0914”(association)0.730
RBBP7HAT1psi-mi:“MI:0914”(association)0.730
ZBTB2ZNF639psi-mi:“MI:0915”(physical association)0.670
ZBTB2RASSF8psi-mi:“MI:0915”(physical association)0.670
ZBTB25ZBTB2psi-mi:“MI:0915”(physical association)0.670
ZBTB2ZBTB25psi-mi:“MI:0914”(association)0.670
ZNF219CDK2AP1psi-mi:“MI:0914”(association)0.640
CARNMT1NUP42psi-mi:“MI:0914”(association)0.640
SPOPJUNpsi-mi:“MI:0914”(association)0.600
ZBTB2SPOPpsi-mi:“MI:0915”(physical association)0.600
ZBTB2SPOPpsi-mi:“MI:2364”(proximity)0.600
SPOPZBTB2psi-mi:“MI:2364”(proximity)0.600
ZBTB2SP1psi-mi:“MI:0915”(physical association)0.580
SP1ZBTB2psi-mi:“MI:0915”(physical association)0.580
SUMO1ZBTB2psi-mi:“MI:0915”(physical association)0.560
ZBTB2ZBTB18psi-mi:“MI:0915”(physical association)0.560

BioGRID (496): ZBTB2 (Reconstituted Complex), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), SP1 (Affinity Capture-Western), ZBTB2 (Affinity Capture-Western), SP1 (Reconstituted Complex)

ESM2 similar proteins: A0JN76, A1L2U9, B1WAZ8, B1WBU4, O15060, O35260, O43298, O93567, P14404, P41182, P41183, Q05516, Q0IH98, Q0IJ29, Q0P4X6, Q0V8G8, Q0VCJ6, Q15916, Q1L8W0, Q3B725, Q3SWU4, Q5TC79, Q5ZM39, Q6NRM8, Q6P882, Q6YND2, Q7TQG0, Q7TSZ8, Q7ZWZ4, Q801P1, Q80X44, Q86UZ6, Q8BID6, Q8CII0, Q8K088, Q8K0L9, Q8N680, Q8NAP8, Q8NCN2, Q8NCP5

Diamond homologs: A0JN76, A1L2U9, A1YEX3, A1YPR0, A2AAX3, B1WAZ8, B1WBS3, B1WBU4, B2RXF5, D3ZA50, O14867, O15062, O15156, O15209, O43167, O43298, O43829, O88282, O88939, O93567, O95365, P24278, P41182, P41183, P52739, P97302, P97303, Q08376, Q0IH98, Q0IJ29, Q0P4X6, Q0VCJ6, Q13105, Q14526, Q1H9T6, Q1L8W0, Q2T9Z7, Q3B725, Q3B7N9, Q3SWU4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 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
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2635.1×2e-06
Regulation of PTEN gene transcription822.0×8e-07
RNA Polymerase I Transcription Initiation620.7×5e-05
NuRD complex assembly919.5×5e-07
Maturation of DENV proteins619.5×6e-05
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)818.0×2e-06
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks613.5×4e-04
Potential therapeutics for SARS712.3×1e-04

GO biological processes:

GO termPartnersFoldFDR
regulation of stem cell differentiation545.1×1e-05
positive regulation of stem cell population maintenance520.2×4e-04
negative regulation of transforming growth factor beta receptor signaling pathway612.3×8e-04
negative regulation of cell migration67.9×5e-03
chromatin remodeling86.9×2e-03
DNA damage response85.0×8e-03
negative regulation of cell population proliferation94.5×8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance42
Likely benign4
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

674 predictions. Top by Δscore:

VariantEffectΔscore
6:151366889:CTCA:Cacceptor_gain1.0000
6:151366891:CA:Cacceptor_gain1.0000
6:151366892:AC:Aacceptor_loss1.0000
6:151366893:C:CCacceptor_gain1.0000
6:151366893:CTGAA:Cacceptor_loss1.0000
6:151391415:CTTA:Cdonor_loss1.0000
6:151391416:TTACC:Tdonor_loss1.0000
6:151391417:TACCT:Tdonor_loss1.0000
6:151391418:A:ACdonor_gain1.0000
6:151391418:A:Tdonor_loss1.0000
6:151391419:C:CCdonor_gain1.0000
6:151391419:C:CGdonor_loss1.0000
6:151391419:CCTGT:Cdonor_gain1.0000
6:151366888:ACTCA:Aacceptor_gain0.9900
6:151366889:CTCAC:Cacceptor_gain0.9900
6:151366890:TCA:Tacceptor_gain0.9900
6:151366890:TCAC:Tacceptor_gain0.9900
6:151366891:CAC:Cacceptor_gain0.9900
6:151366894:T:Aacceptor_loss0.9900
6:151366903:C:CTacceptor_gain0.9900
6:151366904:A:Tacceptor_gain0.9900
6:151373528:G:Adonor_gain0.9900
6:151388935:C:CTdonor_gain0.9900
6:151388936:T:TTdonor_gain0.9900
6:151391418:AC:Adonor_gain0.9900
6:151391419:CC:Cdonor_gain0.9900
6:151391419:CCT:Cdonor_gain0.9900
6:151366737:T:TAdonor_gain0.9800
6:151366906:G:Cacceptor_gain0.9800
6:151391419:CCTG:Cdonor_gain0.9800

AlphaMissense

3401 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:151365718:A:GC450R1.000
6:151365842:G:CH408Q1.000
6:151365842:G:TH408Q1.000
6:151365843:T:CH408R1.000
6:151365844:G:CH408D1.000
6:151365844:G:TH408N1.000
6:151365863:C:AR401S1.000
6:151365863:C:GR401S1.000
6:151365864:C:AR401M1.000
6:151365864:C:GR401T1.000
6:151365869:A:CF399L1.000
6:151365869:A:TF399L1.000
6:151365870:A:CF399C1.000
6:151365870:A:GF399S1.000
6:151365871:A:GF399L1.000
6:151365881:A:CC395W1.000
6:151365882:C:TC395Y1.000
6:151365883:A:GC395R1.000
6:151365890:G:CC392W1.000
6:151365891:C:GC392S1.000
6:151365892:A:GC392R1.000
6:151365892:A:TC392S1.000
6:151365896:G:CF390L1.000
6:151365896:G:TF390L1.000
6:151365898:A:GF390L1.000
6:151365911:G:CH385Q1.000
6:151365911:G:TH385Q1.000
6:151365912:T:AH385L1.000
6:151365912:T:CH385R1.000
6:151365912:T:GH385P1.000

dbSNP variants (sampled 300 via entrez): RS1000025207 (6:151389981 C>T), RS1000099038 (6:151384324 C>G), RS1000120347 (6:151390926 C>T), RS1000165155 (6:151382807 G>A), RS1000193493 (6:151375061 G>A), RS1000224481 (6:151375366 A>C,T), RS1000269012 (6:151366160 G>A), RS1000401892 (6:151369311 G>A), RS1000487330 (6:151373395 T>C), RS1000503119 (6:151380178 C>T), RS1000540666 (6:151373868 A>C), RS1000704427 (6:151373664 ATTTTAT>A), RS1000747546 (6:151368352 T>C), RS1000904588 (6:151393462 CA>C), RS1000994873 (6:151385807 C>A,T)

Disease associations

OMIM: gene MIM:616595 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

StudyTraitp-value
GCST001063_1Chronic myeloid leukemia2.000000e-06
GCST010002_338Refractive error5.000000e-20
GCST90000025_133Appendicular lean mass3.000000e-17
GCST90002393_581Monocyte count8.000000e-09

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004980appendicular lean mass
EFO:0005091monocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5069373 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
(+)-JQ1 compounddecreases expression4
Formaldehydedecreases expression2
Silverincreases expression2
Tobacco Smoke Pollutionincreases expression2
Valproic Acidaffects expression, decreases expression2
aristolochic acid Idecreases expression1
TAK-243increases sumoylation1
dicrotophosincreases expression1
triphenyl phosphateaffects expression1
trichostatin Adecreases expression1
beta-lapachoneincreases expression1
di-n-butylphosphoric acidaffects expression1
4-phenylbutyric aciddecreases expression1
pentabromodiphenyl etherincreases expression1
perfluoro-n-nonanoic acidincreases expression1
abrineincreases expression1
2,2’,4,4’-tetrabromodiphenyl etherincreases expression1
PCI 5002affects cotreatment, increases expression1
Resveratrolaffects cotreatment, decreases expression1
Sunitinibincreases expression1
Leflunomideincreases expression1
Air Pollutantsincreases abundance, decreases expression1
Caffeineaffects phosphorylation1
Dimethyl Sulfoxideincreases expression1
Doxorubicinincreases expression1
Hydrogen Peroxideaffects expression1
Lipopolysaccharidesaffects cotreatment, decreases expression1
Phenobarbitalaffects expression1
Quercetindecreases expression1
Rotenonedecreases expression1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5059506BindingProteomics fold change data (SUDHL4 cells, 1h)Data for DCP probe CCT369260

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): chronic myeloid leukemia