EHBP1

Summary

EHBP1 (EH domain binding protein 1, HGNC:29144) is a protein-coding gene on chromosome 2p15, encoding EH domain-binding protein 1 (Q8NDI1). May play a role in actin reorganization.

This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 23301 — RefSeq curated summary.

At a glance

• GWAS associations: 31
• Clinical variants (ClinVar): 214 total
• MANE Select transcript: NM_001142616

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29144
Approved symbol	EHBP1
Name	EH domain binding protein 1
Location	2p15
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0903, NACSIN
Ensembl gene	ENSG00000115504
Ensembl biotype	protein_coding
OMIM	609922
Entrez	23301

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 26 protein_coding, 5 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000263991, ENST00000405015, ENST00000405289, ENST00000405482, ENST00000413434, ENST00000422032, ENST00000426940, ENST00000427809, ENST00000431489, ENST00000444311, ENST00000449820, ENST00000454124, ENST00000462441, ENST00000467436, ENST00000469591, ENST00000471179, ENST00000472809, ENST00000491965, ENST00000494958, ENST00000496857, ENST00000861116, ENST00000861117, ENST00000861118, ENST00000861119, ENST00000861120, ENST00000861121, ENST00000861122, ENST00000861123, ENST00000861124, ENST00000861125, ENST00000861126, ENST00000861127, ENST00000861128, ENST00000946019

RefSeq mRNA: 15 — MANE Select: NM_001142616 NM_001142614, NM_001142615, NM_001142616, NM_001354212, NM_001354213, NM_001354214, NM_001354215, NM_001354216, NM_001354217, NM_001354218, NM_001354219, NM_001354220, NM_001354221, NM_001354222, NM_015252

CCDS: CCDS1872, CCDS46299, CCDS46300

Canonical transcript exons

ENST00000431489 — 23 exons

Exon	Start	End
ENSE00000443426	62859169	62859291
ENSE00000962865	62831019	62831158
ENSE00001270679	62948260	62949162
ENSE00001476087	62864731	62864971
ENSE00001547495	63045410	63046487
ENSE00001710376	62705713	62706052
ENSE00002504201	62955517	62955660
ENSE00003506478	62942718	62942896
ENSE00003537825	62747395	62747452
ENSE00003538592	62874346	62874532
ENSE00003554491	62979188	62979335
ENSE00003555277	62826087	62826268
ENSE00003560955	62706897	62707295
ENSE00003565386	62764266	62764361
ENSE00003581971	63038743	63038816
ENSE00003598612	62996643	62996766
ENSE00003620158	62993530	62993668
ENSE00003622717	62943802	62943850
ENSE00003625934	63037535	63037634
ENSE00003649261	62993871	62993977
ENSE00003676264	63045066	63045180
ENSE00003680834	62771339	62771392
ENSE00003680981	62990716	62990840

Expression profiles

Bgee: expression breadth ubiquitous, 298 present calls, max score 98.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.0353 / max 186.5970, expressed in 1629 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
20506	7.0780	1607
20507	0.7725	436
20518	0.4856	116
20517	0.3863	83
20508	0.1904	75
202207	0.0790	29
20501	0.0435	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	98.89	gold quality
endothelial cell	CL:0000115	98.69	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.69	gold quality
trigeminal ganglion	UBERON:0001675	98.53	gold quality
middle temporal gyrus	UBERON:0002771	98.47	gold quality
dorsal root ganglion	UBERON:0000044	98.46	gold quality
gingival epithelium	UBERON:0001949	97.81	gold quality
olfactory bulb	UBERON:0002264	97.79	gold quality
gingiva	UBERON:0001828	97.38	gold quality
tibial nerve	UBERON:0001323	97.21	gold quality
parietal pleura	UBERON:0002400	97.16	gold quality
tendon of biceps brachii	UBERON:0008188	96.99	gold quality
tongue squamous epithelium	UBERON:0006919	96.73	gold quality
calcaneal tendon	UBERON:0003701	96.70	gold quality
cortical plate	UBERON:0005343	96.50	gold quality
squamous epithelium	UBERON:0006914	96.39	gold quality
tendon	UBERON:0000043	96.37	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.31	gold quality
germinal epithelium of ovary	UBERON:0001304	96.25	gold quality
cerebellar vermis	UBERON:0004720	96.14	gold quality
superior frontal gyrus	UBERON:0002661	96.13	gold quality
postcentral gyrus	UBERON:0002581	96.09	gold quality
secondary oocyte	CL:0000655	96.03	gold quality
substantia nigra pars compacta	UBERON:0001965	95.94	gold quality
cauda epididymis	UBERON:0004360	95.94	gold quality
esophagus squamous epithelium	UBERON:0006920	95.94	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.90	gold quality
palpebral conjunctiva	UBERON:0001812	95.85	gold quality
cervix squamous epithelium	UBERON:0006922	95.81	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	11.02
E-ANND-3	yes	8.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting EHBP1, 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-513A-5P	100.00	69.77	2465
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-6512-3P	99.65	66.07	1468

Literature-anchored findings (GeneRIF, showing 3)

• EHBP1 is an EH domain binding protein that, along with EHD2, has a role in coupling endocytosis to the actin cytoskeleton (PMID:14676205)
• The purpose of this study was to evaluate the association of rs16901979, rs4242382 and rs1447295 on 8q24 locus, rs2735839 (KLK3 gene) and rs721048 (EHBP1 gene) with prostate adenocarcinoma through multi-stage approach to identify the polymorphisms associated with prostate cancer and use them as screening factors (PMID:32295536)
• The mechanism of activation of the actin binding protein EHBP1 by Rab8 family members. (PMID:32826901)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ehbp1	ENSDARG00000043643
mus_musculus	Ehbp1	ENSMUSG00000042302
rattus_norvegicus	Ehbp1	ENSRNOG00000008917
drosophila_melanogaster	Ehbp1	FBGN0034180

Paralogs (7): ASPM (ENSG00000066279), MICALL1 (ENSG00000100139), GAS2 (ENSG00000148935), MICALL2 (ENSG00000164877), EHBP1L1 (ENSG00000173442), GAS2L1 (ENSG00000185340), SMTNL1 (ENSG00000214872)

Protein

Protein identifiers

EH domain-binding protein 1 — Q8NDI1 (reviewed: Q8NDI1)

All UniProt accessions (10): A0A140VK17, B5MC86, C9IYU2, C9J268, C9JEP1, C9K0H9, Q8NDI1, H7BZ98, H7C0Q4, H7C1E6

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in actin reorganization. Links clathrin-mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking. Required for perinuclear sorting and insulin-regulated recycling of SLC2A4/GLUT4 in adipocytes.

Subunit / interactions. Interacts with EHD1. Interacts with EHD2. Interacts with RAB8A, RAB10, RAB13 and RAB15 (in their GTP-bound forms); at least in case of RAB8A may bind 2 molecules of RAB8A simultaneously through a high and a low affinity binding site, respectively.

Subcellular location. Cytoplasm. Membrane. Endosome.

Post-translational modifications. Prenylated. Farnelysation (predominant) and geranylgeranylation has been observed in vitro.

Disease relevance. Prostate cancer, hereditary, 12 (HPC12) [MIM:611868] A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Domain organisation. The CAAX motif is a signal for prenylation and required for endosomal colocalization with Rab8 and Rab10. The bivalent Mical/EHBP Rab binding (bMERB) domain, mediates binding to Rab8, Rab10, Rab10, Rab13 and Rab15 (in their GTP-bound forms).

Isoforms (3)

UniProt ID	Names	Canonical?
Q8NDI1-1	1	yes
Q8NDI1-2	2
Q8NDI1-3	3

RefSeq proteins (15): NP_001136086, NP_001136087, NP_001136088, NP_001341141, NP_001341142, NP_001341143, NP_001341144, NP_001341145, NP_001341146, NP_001341147, NP_001341148, NP_001341149, NP_001341150, NP_001341151, NP_056067 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001715	CH_dom	Domain
IPR019448	NT-C2	Domain
IPR022735	bMERB_dom	Domain
IPR036872	CH_dom_sf	Homologous_superfamily
IPR050540	F-actin_Monoox_Mical	Family

Pfam: PF00307, PF10358, PF12130

UniProt features (75 total): modified residue 19, compositionally biased region 13, helix 12, region of interest 10, sequence conflict 5, coiled-coil region 4, domain 3, splice variant 2, sequence variant 2, turn 2, chain 1, short sequence motif 1, strand 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
6ZSI	X-RAY DIFFRACTION	1.91
6ZSJ	X-RAY DIFFRACTION	2
6ZSH	X-RAY DIFFRACTION	2.2
2D89	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NDI1-F1	58.13	0.20

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 (19): 171, 174, 177, 222, 302, 307, 335, 408, 426, 428, 432, 436, 636, 694, 710, 781, 854, 964, 1058

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 198 (showing top): E2F_Q4, FREAC2_01, E2F4DP1_01, GCM_GSPT1, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, DOANE_BREAST_CANCER_CLASSES_DN, AACWWCAANK_UNKNOWN, E2F1DP1_01, SOX9_B1, E2F1DP2_01, TURASHVILI_BREAST_NORMAL_DUCTAL_VS_LOBULAR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_AND_CANCER_BOX5_UP, AACTTT_UNKNOWN

GO Biological Process (2): endocytosis (GO:0006897), protein transport (GO:0015031)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), endosome (GO:0005768), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
binding	1
nuclear lumen	1
endomembrane system	1
cytoplasmic vesicle	1
cytoplasm	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1454 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EHBP1	EHD2	Q9NZN4	996
EHBP1	EHD3	Q9NZN3	981
EHBP1	RAB10	P61026	888
EHBP1	NUDT11	Q96G61	819
EHBP1	RAB8A	P24407	809
EHBP1	EHD1	Q9H4M9	800
EHBP1	RBSN	Q9H1K0	714
EHBP1	LMTK2	Q8IWU2	689
EHBP1	MSMB	P08118	667
EHBP1	EPS15	P42566	636
EHBP1	EHD4	Q9H223	626
EHBP1	JAZF1	Q86VZ6	593
EHBP1	PACSIN1	Q9BY11	568
EHBP1	NUMBL	Q9Y6R0	548
EHBP1	BIN1	O00499	533

IntAct

68 interactions, top by confidence:

A	B	Type	Score
KBTBD7	METTL15	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
IFT57	IFT56	psi-mi:“MI:0914”(association)	0.640
KANK4	TRAPPC3	psi-mi:“MI:0914”(association)	0.640
RAB8A	WDR91	psi-mi:“MI:0914”(association)	0.600
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
INSR	PIK3R2	psi-mi:“MI:2364”(proximity)	0.570
HDGFL2	CDC7	psi-mi:“MI:0914”(association)	0.530
EHBP1	H1-5	psi-mi:“MI:0915”(physical association)	0.400
EHBP1	H1-2	psi-mi:“MI:0915”(physical association)	0.400
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
COPS6	DDX3X	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CALML3	MYO1C	psi-mi:“MI:0914”(association)	0.350
EHBP1	KLK7	psi-mi:“MI:0914”(association)	0.350
EEF1AKMT3	SMCHD1	psi-mi:“MI:0914”(association)	0.350
SLC22A2	RAB27B	psi-mi:“MI:0914”(association)	0.350
TMEM17	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
OFD1	PSMD14	psi-mi:“MI:2364”(proximity)	0.270
BET1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
CANX	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
COX14	NUDT19	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (149): EHBP1 (Affinity Capture-MS), EHBP1 (Proximity Label-MS), EHBP1 (Proximity Label-MS), EHBP1 (Affinity Capture-MS), EHBP1 (Proximity Label-MS), EHBP1 (Affinity Capture-MS), EHBP1 (Affinity Capture-MS), EHBP1 (Affinity Capture-MS), ACAP2 (Affinity Capture-MS), EHBP1 (Affinity Capture-RNA), EHBP1 (Affinity Capture-RNA), EHD2 (Reconstituted Complex), EHBP1 (Proximity Label-MS), EHBP1 (Proximity Label-MS), EHBP1 (Co-localization)

ESM2 similar proteins: A1A5R8, A8KBE0, B4F6Q9, E7FA21, O43166, P53804, P62287, P62289, P62290, P62291, P62292, P62293, P62294, Q06190, Q08AX9, Q0VA42, Q12923, Q13829, Q3UMB5, Q5F3E8, Q5JCS6, Q5RA75, Q5RBH4, Q5TB30, Q5XKL5, Q5ZIX8, Q65Z40, Q68FF0, Q6DJS0, Q6GQJ2, Q6IE81, Q6ING4, Q6IRN6, Q6NPP4, Q6NSI8, Q6PUR7, Q7Z5K2, Q7ZXG4, Q8C0T5, Q8CIG0

Diamond homologs: A5D7D1, A8MU46, D3ZEN0, D3ZHV2, D3ZQL6, D4A1F2, E1BBG2, E7F9T0, F1MF74, F1QH17, F1QWK4, F1RA39, F6QZ15, G3MWR8, G3V7L1, L7UZ85, M9MRD1, O13728, O15020, O43707, O76329, O88990, O94851, O97592, P05094, P05095, P11277, P11530, P11531, P11532, P11533, P12814, P15508, P18091, P20111, P30427, P35609, P46939, P53814, P57780

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 84 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
Constitutive Signaling by Aberrant PI3K in Cancer	6	12.7×	2e-03
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	7	11.3×	1e-03
PIP3 activates AKT signaling	7	7.8×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein autophosphorylation	6	11.9×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	176
Likely benign	15
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

5474 predictions. Top by Δscore:

Variant	Effect	Δscore
2:62747393:A:AG	acceptor_gain	1.0000
2:62747393:A:G	acceptor_loss	1.0000
2:62747394:G:GA	acceptor_gain	1.0000
2:62747440:G:GT	donor_gain	1.0000
2:62747448:CTAAG:C	donor_loss	1.0000
2:62747449:TAAGG:T	donor_loss	1.0000
2:62747452:GGT:G	donor_loss	1.0000
2:62747453:G:GG	donor_gain	1.0000
2:62771390:AAT:A	donor_gain	1.0000
2:62771391:AT:A	donor_gain	1.0000
2:62771392:TGTA:T	donor_loss	1.0000
2:62771393:G:GG	donor_gain	1.0000
2:62771393:GTAAG:G	donor_loss	1.0000
2:62771394:T:G	donor_loss	1.0000
2:62771398:C:G	donor_gain	1.0000
2:62811429:G:GG	donor_gain	1.0000
2:62826077:A:AG	acceptor_gain	1.0000
2:62826078:A:G	acceptor_gain	1.0000
2:62826084:CAGG:C	acceptor_loss	1.0000
2:62826085:AGG:A	acceptor_loss	1.0000
2:62826086:GGA:G	acceptor_gain	1.0000
2:62826143:G:GG	donor_gain	1.0000
2:62826264:GCCAC:G	donor_gain	1.0000
2:62858487:C:G	donor_gain	1.0000
2:62858510:GGTC:G	donor_gain	1.0000
2:62859163:TTTCA:T	acceptor_loss	1.0000
2:62859167:A:AG	acceptor_gain	1.0000
2:62859167:A:AT	acceptor_loss	1.0000
2:62859168:G:GA	acceptor_gain	1.0000
2:62859168:GA:G	acceptor_gain	1.0000

AlphaMissense

7671 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:62707204:T:A	W5R	1.000
2:62707204:T:C	W5R	1.000
2:62707205:G:C	W5S	1.000
2:62707206:G:C	W5C	1.000
2:62707206:G:T	W5C	1.000
2:62707211:G:C	R7T	1.000
2:62707212:A:C	R7S	1.000
2:62707212:A:T	R7S	1.000
2:62707214:T:A	L8Q	1.000
2:62707214:T:C	L8P	1.000
2:62707219:C:A	R10S	1.000
2:62707243:T:C	F18L	1.000
2:62707244:T:C	F18S	1.000
2:62707245:C:A	F18L	1.000
2:62707245:C:G	F18L	1.000
2:62707250:T:C	F20S	1.000
2:62707256:C:A	A22D	1.000
2:62707261:T:G	Y24D	1.000
2:62707271:T:A	L27H	1.000
2:62707271:T:C	L27P	1.000
2:62707277:T:A	V29D	1.000
2:62707294:T:A	W35R	1.000
2:62707294:T:C	W35R	1.000
2:62747395:G:C	W35C	1.000
2:62747395:G:T	W35C	1.000
2:62747400:C:A	P37Q	1.000
2:62747400:C:G	P37R	1.000
2:62747409:T:C	L40P	1.000
2:62747409:T:G	L40R	1.000
2:62747415:T:A	V42E	1.000

dbSNP variants (sampled 300 via entrez): RS1000013121 (2:62905668 A>G), RS1000024794 (2:62762622 G>A), RS1000025612 (2:62718038 T>C), RS1000030829 (2:62959293 G>C), RS1000038730 (2:62949944 T>A), RS1000051703 (2:62769813 A>G), RS1000065004 (2:62892484 A>C), RS1000082892 (2:63003986 A>C,G), RS1000092054 (2:62950259 A>T), RS1000109841 (2:62806935 A>G), RS1000143631 (2:62983179 G>A), RS1000163119 (2:62931486 A>G), RS1000165828 (2:62746254 A>G), RS1000166111 (2:62730704 C>T), RS1000190301 (2:62833452 C>A)

Disease associations

OMIM: gene MIM:609922 | disease phenotypes: MIM:611868

GenCC curated gene-disease

Mondo (2): prostate cancer, hereditary, 12 (MONDO:0012741), myoepithelial tumor (MONDO:0002380)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

31 associations (top):

Study	Trait	p-value
GCST000153_2	Prostate cancer	8.000000e-09
GCST000488_15	Prostate cancer	5.000000e-07
GCST001438_3	Crohn’s disease	7.000000e-09
GCST002222_52	LDL cholesterol	6.000000e-09
GCST002783_10	Body mass index	1.000000e-06
GCST002783_451	Body mass index	4.000000e-07
GCST002783_487	Body mass index	2.000000e-08
GCST002890_11	Prostate cancer	9.000000e-12
GCST004233_17	LDL cholesterol levels	2.000000e-10
GCST004904_149	Body mass index	3.000000e-08
GCST005194_203	Coronary artery disease	4.000000e-06
GCST006034_21	Total cholesterol levels	5.000000e-08
GCST006612_56	LDL cholesterol	7.000000e-10
GCST006922_6	Regular attendance at a religious group	4.000000e-08
GCST008077_79	LDL cholesterol levels	2.000000e-07
GCST008078_18	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-12
GCST008078_71	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	6.000000e-19
GCST008079_145	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1.000000e-18
GCST008079_26	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1.000000e-12
GCST008086_54	LDL cholesterol levels in current drinkers	6.000000e-13
GCST008086_83	LDL cholesterol levels in current drinkers	3.000000e-06
GCST008526_19	Coffee consumption	2.000000e-06
GCST010136_10	Fruit consumption	1.000000e-08
GCST010204_80	Low density lipoprotein cholesterol levels	1.000000e-21
GCST010243_34	Apolipoprotein B levels	1.000000e-18
GCST010245_145	LDL cholesterol levels	2.000000e-19
GCST010866_34	Coronary artery disease	4.000000e-09
GCST011346_15	Total cholesterol levels	3.000000e-11
GCST011347_16	Low density lipoprotein cholesterol levels	6.000000e-11
GCST011365_85	Myocardial infarction	8.000000e-07

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004340	body mass index
EFO:0004574	total cholesterol measurement
EFO:0009592	social interaction measurement
EFO:0004329	alcohol drinking
EFO:0006781	coffee consumption measurement
EFO:0008111	diet measurement
EFO:0004615	apolipoprotein B measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D009208	Myoepithelioma	C04.557.435.585
C567510	Prostate Cancer, Hereditary, 12 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases expression, increases methylation	4
bisphenol A	increases methylation, increases expression, affects methylation, affects cotreatment	3
trichostatin A	affects cotreatment, decreases expression, affects expression	3
Valproic Acid	decreases expression, decreases methylation	3
Aflatoxin B1	decreases expression, decreases methylation, increases methylation	3
sodium arsenite	affects methylation, decreases expression	2
methacrylaldehyde	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
bisphenol S	decreases methylation, affects cotreatment, decreases expression	2
Acetaminophen	decreases expression	2
Acrolein	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Caffeine	affects phosphorylation, increases expression	2
Cisplatin	decreases expression	2
Estradiol	affects expression, affects cotreatment, decreases expression	2
Ozone	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cyclosporine	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases methylation	1
geldanamycin	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, decreases expression, increases oxidation	1
beta-lapachone	increases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	affects phosphorylation	1
beta-methylcholine	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03600649	PHASE1	UNKNOWN	Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas
NCT05266196	PHASE1/PHASE2	UNKNOWN	A Rollover Protocol to Allow for Continued Access to the LSD1 Inhibitor Seclidemstat (SP-2577)
NCT06239272	PHASE1/PHASE2	RECRUITING	NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS)
NCT06625190	PHASE1/PHASE2	RECRUITING	Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors
NCT06244420	Not specified	COMPLETED	Malignant Myoepithelioma of Bone and Soft Tissues: Diagnostic Imaging and Histology in Relation to Prognosis