PRUNE2

Summary

PRUNE2 (prune homolog 2 with BCH domain, HGNC:25209) is a protein-coding gene on chromosome 9q21.2, encoding Protein prune homolog 2 (Q8WUY3). May play an important role in regulating differentiation, survival and aggressiveness of the tumor cells.

The protein encoded by this gene belongs to the B-cell CLL/lymphoma 2 and adenovirus E1B 19 kDa interacting family, whose members play roles in many cellular processes including apotosis, cell transformation, and synaptic function. Several functions for this protein have been demonstrated including suppression of Ras homolog family member A activity, which results in reduced stress fiber formation and suppression of oncogenic cellular transformation. A high molecular weight isoform of this protein has also been shown to colocalize with Adaptor protein complex 2, beta-Adaptin and endodermal markers, suggesting an involvement in post-endocytic trafficking. In prostate cancer cells, this gene acts as a tumor suppressor and its expression is regulated by prostate cancer antigen 3, a non-protein coding gene on the opposite DNA strand in an intron of this gene. Prostate cancer antigen 3 regulates levels of this gene through formation of a double-stranded RNA that undergoes adenosine deaminase actin on RNA-dependent adenosine-to-inosine RNA editing. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 158471 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 531 total — 1 likely-pathogenic
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• MANE Select transcript: NM_015225

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25209
Approved symbol	PRUNE2
Name	prune homolog 2 with BCH domain
Location	9q21.2
Locus type	gene with protein product
Status	Approved
Aliases	BMCC1, BNIPXL, A214N16.3, bA214N16.3
Ensembl gene	ENSG00000106772
Ensembl biotype	protein_coding
OMIM	610691
Entrez	158471

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 9 protein_coding, 7 protein_coding_CDS_not_defined

ENST00000376713, ENST00000376717, ENST00000376718, ENST00000424866, ENST00000426088, ENST00000428286, ENST00000443509, ENST00000464414, ENST00000466266, ENST00000480674, ENST00000488346, ENST00000489555, ENST00000492157, ENST00000494975, ENST00000890344, ENST00000945858

RefSeq mRNA: 7 — MANE Select: NM_015225 NM_001308047, NM_001308048, NM_001308049, NM_001308050, NM_001308051, NM_001330680, NM_015225

CCDS: CCDS47982, CCDS78407, CCDS83375

Canonical transcript exons

ENST00000376718 — 19 exons

Exon	Start	End
ENSE00001471466	76644739	76644909
ENSE00001537695	76611376	76614600
ENSE00001594941	76629192	76629290
ENSE00001672792	76619340	76619387
ENSE00001785502	76636471	76636557
ENSE00001798066	76624452	76624490
ENSE00001801511	76703337	76704099
ENSE00002196888	76637418	76637549
ENSE00003517575	76826580	76826732
ENSE00003519437	76854104	76854208
ENSE00003535216	76846515	76846678
ENSE00003543446	76652483	76652683
ENSE00003588653	76704761	76711358
ENSE00003593132	76905928	76906114
ENSE00003603381	76713563	76713721
ENSE00003622451	76850463	76850665
ENSE00003629097	76638186	76638288
ENSE00003645392	76823632	76823726
ENSE00003748808	76655423	76655502

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 99.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.7319 / max 647.6883, expressed in 1140 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101060	13.1227	788
101049	3.5705	543
101061	0.7887	354
101059	0.6139	251
101064	0.3215	116
101051	0.2684	116
101047	0.2072	96
101063	0.1947	97
101045	0.1816	82
205525	0.1155	60

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
dorsal root ganglion	UBERON:0000044	99.60	gold quality
decidua	UBERON:0002450	99.31	gold quality
mucosa of stomach	UBERON:0001199	99.10	gold quality
blood vessel layer	UBERON:0004797	98.90	gold quality
descending thoracic aorta	UBERON:0002345	98.80	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.79	gold quality
lower esophagus	UBERON:0013473	98.76	gold quality
endothelial cell	CL:0000115	98.71	gold quality
thoracic aorta	UBERON:0001515	98.71	gold quality
cerebellar vermis	UBERON:0004720	98.71	gold quality
aorta	UBERON:0000947	98.70	gold quality
popliteal artery	UBERON:0002250	98.70	gold quality
ascending aorta	UBERON:0001496	98.69	gold quality
tibial artery	UBERON:0007610	98.69	gold quality
corpus callosum	UBERON:0002336	98.57	gold quality
cerebellar cortex	UBERON:0002129	98.51	gold quality
cerebellar hemisphere	UBERON:0002245	98.51	gold quality
middle temporal gyrus	UBERON:0002771	98.49	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.49	gold quality
cerebellum	UBERON:0002037	98.43	gold quality
right coronary artery	UBERON:0001625	98.41	gold quality
artery	UBERON:0001637	98.40	gold quality
pons	UBERON:0000988	98.34	gold quality
saphenous vein	UBERON:0007318	98.34	gold quality
cauda epididymis	UBERON:0004360	98.30	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.29	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.26	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.14	gold quality
inferior vagus X ganglion	UBERON:0005363	97.94	gold quality
trigeminal ganglion	UBERON:0001675	97.92	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	3544.09
E-CURD-119	yes	796.39
E-GEOD-134144	yes	441.77
E-HCAD-35	yes	93.39
E-HCAD-25	yes	51.95
E-GEOD-81608	yes	17.89
E-ENAD-27	yes	12.90
E-GEOD-83139	yes	9.63
E-ANND-3	yes	5.92
E-CURD-10	no	223.06
E-GEOD-109979	no	67.17

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 17)

• BMCC1 is a new member of prognostic factors for NBL and may play an important role in regulating differentiation, survival and aggressiveness of the tumor cells (PMID:16288218)
• OBSCN and C9orf65 comprise a highly accurate two-gene classifier for differentiating gastrointestinal stromal tumors and leiomyosarcomas. (PMID:17360660)
• Our results suggest that the caspase-mediated cleavage of BNIP-2 and BNIP-XL could result in the release of the BCH domain or smaller fragments that are crucial for their proapoptotic activities. (PMID:17961507)
• findings show the BNIP2 & BCH domain of BNIPXL interacts with specific conformers of RhoA & mediates association with catalytic DH-PH domains of Lbc, a RhoA-specific guanine nucleotide exchange factor; BNIPXL inhibits Lbc-induced oncogenic transformation (PMID:18445682)
• the longer BMCC1-1 isoform is upregulated in PCa tissues and metastases (PMID:19319183)
• The androgen regulation of PRUNE2 expression in prostate cancer cells was found to not be of any diagnostic value. (PMID:19760627)
• The nerve tissue-specific and post-development expression of PRUNE2/Prune2 suggests that PRUNE2 may contribute to the maintenance of mature nervous systems. (PMID:21234814)
• PRUNE2 expression is correlated with the survival of leiomyosarcoma patients. Non-coding RNA PCA3 has a significant positive correlation with PRUNE2 and may play an important role in the pathogenesis of leiomyosarcoma. (PMID:22967466)
• We showed that Olfaxin, a novel Prune2 isoform contains a BCH motif and localizes predominantly to the synaptic cytosol in the olfactory bulb and layer Ia of the piriform cortex. (PMID:23059019)
• BMCC1 is an AP-2 associated endosomal protein in prostate cancer cells. (PMID:24040105)
• recurrent germ line and somatic mutations in PRUNE2 were found in parathyroid carcinoma and computationally predicted to be deleterious; in addition, recurrent mutations in kinase genes related to cell migration and invasion were found. (PMID:25387265)
• BMCC1 negatively regulates phosphorylation pathway of AKT, resulted in apoptosis and the BNIP2 homology region of BMCC1 interacts with BCL2. (PMID:25611382)
• Results show prostate cancer antigen 3 (PCA3) as a dominant-negative oncogene and PRUNE2 protein as an unrecognized tumor suppressor gene in prostate cancer. (PMID:26080435)
• E2F1 directly facilitated BMCC1 transcription. These results also suggest that BMCC1 induced by E2F1 acts as a tumor suppressor through its pro-apoptotic function, resulted in favorable prognosis of neuroblastoma. (PMID:27453342)
• The programmed expression of full-length BMCC1 in human neuroblastoma cells undergoing DNA damage-induced apoptosis. (PMID:31170959)
• FOXF2 Regulates PRUNE2 Transcription in the Pathogenesis of Colorectal Cancer. (PMID:35929169)
• Exome sequencing of affected duos and trios uncovers PRUNE2 as a novel prostate cancer predisposition gene. (PMID:36564567)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	prune2	ENSDARG00000059423
mus_musculus	Prune2	ENSMUSG00000039126
rattus_norvegicus	Prune2	ENSRNOG00000015088
drosophila_melanogaster	CG11593	FBGN0035488

Paralogs (3): BNIP2 (ENSG00000140299), BNIPL (ENSG00000163141), ATCAY (ENSG00000167654)

Protein

Protein identifiers

Protein prune homolog 2 — Q8WUY3 (reviewed: Q8WUY3)

Alternative names: BNIP2 motif-containing molecule at the C-terminal region 1

All UniProt accessions (7): Q8WUY3, A0A088AWP5, E9PDC2, H7BZH9, Q5JUB8, Q5JUB9, X6R9J3

UniProt curated annotations — full annotation on UniProt →

Function. May play an important role in regulating differentiation, survival and aggressiveness of the tumor cells.

Subcellular location. Cytoplasm.

Tissue specificity. A high level of expression seen in the nervous system (brain, cerebellum and spinal cord) as well as adrenal gland. Expressed at high levels in noneuroblastoma, rhabdomyosarcoma, melanoma and some osteosarcoma cell lines, whereas at only low levels in cancer cell lines of liver, breast, thyroid and colon. Expression is significantly higher in favorable tumors than aggressive ones.

Induction. Down-regulated after NGF-induced differentiation, and up-regulated during the NGF-depletion-induced apoptosis.

Miscellaneous. PRUNE2/BMCC1 and PCA3, one of the most prostate cancer specific markers are overlapping genes in reverse orientation. However, they do not appear to be coregulated.

Similarity. Belongs to the PPase class C family. Prune subfamily.

Isoforms (5)

UniProt ID	Names	Canonical?
Q8WUY3-1	1	yes
Q8WUY3-2	2
Q8WUY3-3	3, BNIPXL-alpha
Q8WUY3-4	4, BNIPXL-beta
Q8WUY3-5	5

RefSeq proteins (7): NP_001294976, NP_001294977, NP_001294978, NP_001294979, NP_001294980, NP_001317609, NP_056040* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001251	CRAL-TRIO_dom	Domain
IPR004097	DHHA2	Domain
IPR022181	Bcl2-/adenovirus-E1B	Family
IPR036865	CRAL-TRIO_dom_sf	Homologous_superfamily
IPR038222	DHHA2_dom_sf	Homologous_superfamily
IPR038763	DHH_sf	Homologous_superfamily

Pfam: PF02833, PF12496, PF13716

UniProt features (68 total): compositionally biased region 27, region of interest 22, sequence conflict 9, splice variant 5, chain 1, domain 1, short sequence motif 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q8WUY3 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

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): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 164 (showing top): RRAGTTGT_UNKNOWN, BENPORATH_ES_WITH_H3K27ME3, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, AAGCCAT_MIR135A_MIR135B, SRF_Q5_01, SRF_01, BROWNE_HCMV_INFECTION_48HR_DN, SRF_C, WTGAAAT_UNKNOWN, ONDER_CDH1_TARGETS_2_UP, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, AACTTT_UNKNOWN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, BASAKI_YBX1_TARGETS_DN, ONDER_CDH1_SIGNALING_VIA_CTNNB1

GO Biological Process (1): apoptotic process (GO:0006915)

GO Molecular Function (3): pyrophosphatase activity (GO:0016462), metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), presynapse (GO:0098793), glutamatergic synapse (GO:0098978), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
synapse	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	1
cation binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1154 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRUNE2	TTPA	P49638	768
PRUNE2	MAP6	Q96JE9	558
PRUNE2	CDC73	Q6P1J9	488
PRUNE2	CCND1	P24385	474
PRUNE2	AKAP13	Q12802	461
PRUNE2	ARHGEF1	Q92888	455
PRUNE2	NTRK1	P04629	453
PRUNE2	ADCK1	Q86TW2	447
PRUNE2	APOL1	O14791	427
PRUNE2	MTHFD1L	Q6UB35	422
PRUNE2	CDC42	P21181	417
PRUNE2	NGF	P01138	413
PRUNE2	APPBP2	Q92624	396
PRUNE2	OBSCN	Q5VST9	395
PRUNE2	GCM2	O75603	389

IntAct

69 interactions, top by confidence:

A	B	Type	Score
PRUNE2	AKT1	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	APBB2	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	BDNF	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	CRYAB	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2		psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	GAPDH	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	UBE2K	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	HSPB1	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	HSP90AA1	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	HSPD1	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	PECAM1	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	TTR	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	VIM	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	WFS1	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	BAG6	psi-mi:“MI:0915”(physical association)	0.560
KLF11	PRUNE2	psi-mi:“MI:0915”(physical association)	0.560
PRUNE2	HTT	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (34): PRUNE2 (Two-hybrid), PRUNE2 (Two-hybrid), ZMYM1 (Affinity Capture-MS), FYN (Affinity Capture-MS), SRC (Affinity Capture-MS), YES1 (Affinity Capture-MS), PRUNE2 (Affinity Capture-RNA), PRUNE2 (Affinity Capture-RNA), PRUNE2 (Affinity Capture-MS), PRUNE2 (Proximity Label-MS), UBLCP1 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), SNX1 (Affinity Capture-MS), SNX2 (Affinity Capture-MS), HLA-DRA (Affinity Capture-MS)

ESM2 similar proteins: A2AWL7, A5WV69, A6H5Y1, A6QP06, D3ZJ47, E9Q555, F1M5M3, F1MJR8, F1QB81, M0R5D6, O14513, O43310, O60284, P10244, P48972, Q05858, Q1X8D7, Q2M1Z3, Q2PFD7, Q3V0M2, Q498L0, Q4R767, Q52KR3, Q5DW34, Q5SW75, Q62770, Q6PEE2, Q75N33, Q75NY9, Q76I76, Q7M6U3, Q80TY4, Q811D2, Q8C5W0, Q8IWB6, Q8IWI9, Q8K0T7, Q8NB66, Q8TC99, Q8WUY3

Diamond homologs: O54940, P85298, Q07960, Q0IHU9, Q12982, Q1M168, Q52KR3, Q54TH9, Q55AR6, Q5BJR4, Q5FWK3, Q5R4Q8, Q7Z465, Q86WG3, Q8BHE3, Q8WUY3, Q99JU7, Q9CXP4, Q9GKT0, Q9VTU3, A4IF90, A6NI28, A7T167, B2RQE8, B2RTY4, B2RWW0, B9VTT2, D3ZFJ3, D3ZZN9, E7EZG2, E7F3F0, F1LQX4, O14014, O43182, O54834, O94988, P34288, P35688, P42331, P55194

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 30 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.

GO biological processes:

GO term	Partners	Fold	FDR
protein stabilization	6	13.8×	4e-04
negative regulation of apoptotic process	7	8.4×	1e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — NBL.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	425
Likely benign	55
Benign	20

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
694460	NC_000009.11:g.12246100_101559378inv	Likely pathogenic

SpliceAI

4414 predictions. Top by Δscore:

Variant	Effect	Δscore
9:76614596:CAATA:C	acceptor_gain	1.0000
9:76614599:TA:T	acceptor_gain	1.0000
9:76614601:C:CC	acceptor_gain	1.0000
9:76636465:CTGTA:C	donor_loss	1.0000
9:76636466:TGTAC:T	donor_loss	1.0000
9:76636467:GTAC:G	donor_loss	1.0000
9:76636468:TAC:T	donor_loss	1.0000
9:76636469:A:C	donor_loss	1.0000
9:76636470:C:G	donor_loss	1.0000
9:76636553:TCAAC:T	acceptor_gain	1.0000
9:76636554:CAAC:C	acceptor_gain	1.0000
9:76636554:CAACC:C	acceptor_gain	1.0000
9:76636555:AAC:A	acceptor_gain	1.0000
9:76636556:AC:A	acceptor_gain	1.0000
9:76636556:ACCT:A	acceptor_loss	1.0000
9:76636557:CC:C	acceptor_gain	1.0000
9:76636558:C:CC	acceptor_gain	1.0000
9:76636559:T:A	acceptor_loss	1.0000
9:76636563:T:C	acceptor_gain	1.0000
9:76636563:T:TC	acceptor_gain	1.0000
9:76637417:CCGT:C	donor_gain	1.0000
9:76637545:CATAT:C	acceptor_gain	1.0000
9:76638182:TCA:T	donor_loss	1.0000
9:76638183:CA:C	donor_loss	1.0000
9:76638184:A:AC	donor_gain	1.0000
9:76638184:A:AT	donor_loss	1.0000
9:76638185:C:CA	donor_gain	1.0000
9:76638185:C:G	donor_loss	1.0000
9:76638185:CA:C	donor_gain	1.0000
9:76638185:CAG:C	donor_gain	1.0000

AlphaMissense

20571 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:76629281:G:C	F3020L	1.000
9:76629281:G:T	F3020L	1.000
9:76629282:A:G	F3020S	1.000
9:76629283:A:G	F3020L	1.000
9:76636525:A:T	V2999D	1.000
9:76636543:A:G	L2993S	1.000
9:76637450:C:A	W2977C	1.000
9:76637450:C:G	W2977C	1.000
9:76637452:A:G	W2977R	1.000
9:76637452:A:T	W2977R	1.000
9:76638192:A:G	L2942P	1.000
9:76629243:A:G	L3033P	0.999
9:76629243:A:T	L3033H	0.999
9:76629261:A:T	V3027D	0.999
9:76629272:T:A	K3023N	0.999
9:76629272:T:G	K3023N	0.999
9:76629273:T:A	K3023I	0.999
9:76629274:T:C	K3023E	0.999
9:76629282:A:C	F3020C	0.999
9:76636474:A:T	I3016K	0.999
9:76636477:A:G	F3015S	0.999
9:76636495:A:G	L3009P	0.999
9:76636514:A:G	W3003R	0.999
9:76636514:A:T	W3003R	0.999
9:76636528:A:T	I2998N	0.999
9:76636534:A:G	F2996S	0.999
9:76636543:A:C	L2993W	0.999
9:76636548:C:A	K2991N	0.999
9:76636548:C:G	K2991N	0.999
9:76636549:T:A	K2991M	0.999

dbSNP variants (sampled 300 via entrez): RS1000000129 (9:76796630 T>C,G), RS1000003097 (9:76664568 T>A,C), RS1000022536 (9:76897980 C>G,T), RS1000027520 (9:76820501 T>G), RS1000035301 (9:76765488 TAG>T), RS1000044227 (9:76885061 C>T), RS1000049612 (9:76890318 T>G), RS1000049847 (9:76668460 C>A), RS1000052308 (9:76805860 T>C), RS1000054316 (9:76625395 T>C), RS1000057964 (9:76803212 T>C), RS1000068255 (9:76798056 A>T), RS1000074547 (9:76880713 C>A,G), RS1000081083 (9:76641555 A>C,G), RS1000085782 (9:76765181 C>A)

Disease associations

OMIM: gene MIM:610691 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000461_1	Hippocampal atrophy	7.000000e-07
GCST008154_59	Trunk fat mass	5.000000e-06
GCST008155_64	Waist-hip ratio	7.000000e-07
GCST008157_63	Body fat mass	5.000000e-06
GCST008159_1	Waist-to-hip ratio adjusted for BMI	8.000000e-06
GCST008295_40	Number of decayed, missing and filled tooth surfaces or use of dentures	8.000000e-11
GCST008306_46	Dentures	8.000000e-11
GCST009312_24	Antisaccade task score	9.000000e-06
GCST010456_6	Anthracycline-induced cardiotoxicity in early breast cancer	3.000000e-06
GCST90002398_253	Neutrophil count	1.000000e-14
GCST90002401_482	Platelet distribution width	1.000000e-12
GCST90002407_113	White blood cell count	8.000000e-13

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005039	hippocampal atrophy
EFO:0004343	waist-hip ratio
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0010078	dentures
EFO:0007969	cognitive inhibition measurement
EFO:0005257	response to anthracycline-based chemotherapy
EFO:1001482	cardiotoxicity
EFO:0004833	neutrophil count
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, increases expression	6
trichostatin A	affects cotreatment, decreases expression, increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
bisphenol A	affects cotreatment, decreases expression, increases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
entinostat	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Dexamethasone	increases expression, affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance	2
GSK-J4	decreases expression	1
afuresertib	increases expression	1
FR900359	affects phosphorylation	1
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	decreases expression	1
aflatoxin B2	decreases methylation	1
nickel sulfate	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
chromium hexavalent ion	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
Temozolomide	decreases expression	1

Clinical trials (associated diseases)

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