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EBPL

gene
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Also known as EBRP

Summary

EBPL (EBP like, HGNC:18061) is a protein-coding gene on chromosome 13q14.2, encoding Emopamil-binding protein-like (Q9BY08). Does not possess sterol isomerase activity and does not bind sigma ligands.

Predicted to enable cholestenol delta-isomerase activity. Predicted to be involved in sterol metabolic process. Located in endoplasmic reticulum.

Source: NCBI Gene 84650 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

  • GWAS associations: 4
  • Clinical variants (ClinVar): 41 total
  • GTEx eGene: eQTL in 49 tissues, sQTL in 31 (q < 0.05)
  • ChEMBL bioactivity: 2 clinical-phase molecules tested; no curated mechanism-of-action drug
  • Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.41 (unconstrained)
  • MANE Select transcript: NM_032565

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18061
Approved symbolEBPL
NameEBP like
Location13q14.2
Locus typegene with protein product
StatusApproved
AliasesEBRP
Ensembl geneENSG00000123179
Ensembl biotypeprotein_coding
OMIM617335
Entrez84650

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 11 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

MANE Select: ENST00000242827

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 2, TSL 3: 2

ENST00000242827, ENST00000378268, ENST00000378270, ENST00000378272, ENST00000378284, ENST00000473576, ENST00000495963, ENST00000900209, ENST00000900210, ENST00001001999, ENST00001002000, ENST00001002001, ENST00001118046, ENST00001118047, ENST00001131859

RefSeq mRNA: 2 — MANE Select: NM_032565 NM_001278636, NM_032565

CCDS: CCDS61334, CCDS9420

Canonical transcript exons

ENST00000242827 — 4 exons

ExonStartEnd
ENSE000018161614966067449661208
ENSE000018278334969125449691486
ENSE000035028774966977749669846
ENSE000036733284966305749663195

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 97.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 73.7289 / max 1101.6147, expressed in 1815 samples.

Highest expression (Bgee): lobe of liver, adrenal gland cortex, adrenal gland, esophagus mucosa, body of pancreas.

Genetic regulation across tissues (GTEx eQTL / sQTL)

EBPL is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 49 tissues and its splicing (sQTL) in 31 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 80 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Adipose Subcutaneouseqtl8.8e-85-0.6813:49709253:T:C
Artery Tibialeqtl1.6e-83-0.7013:49709253:T:C
Skin Sun Exposed Lower legeqtl1.6e-73-0.6713:49691612:G:C
Whole Bloodeqtl1.2e-68-0.5113:49709253:T:C
Skin Not Sun Exposed Suprapubiceqtl5.2e-64-0.6813:49691612:G:C
Nerve Tibialeqtl2.8e-63-0.8513:49731167:C:T
Esophagus Musculariseqtl1.5e-58-0.8913:49691102:C:T
Thyroideqtl3.4e-57-0.5813:49709253:T:C
Adipose Visceral Omentumeqtl7.1e-57-0.5213:49709253:T:C
Cells Cultured fibroblastseqtl5.1e-52-0.4013:49692408:A:G
Artery Aortaeqtl1.6e-49-0.9313:49691102:C:T
Testiseqtl6.4e-48-1.0813:49691102:C:T
Muscle Skeletaleqtl1.9e-42-0.4313:49692408:A:G
Esophagus Gastroesophageal Junctioneqtl4.1e-40-1.0513:49731167:C:T
Lungeqtl8.0e-39-0.4413:49709253:T:C
Cells EBV-transformed lymphocyteseqtl2.9e-38-0.5613:49691973:T:C
Skin Not Sun Exposed Suprapubicsqtl1.4e-37+1.9813:49775762:G:A
Colon Sigmoideqtl4.1e-37-0.9713:49691612:G:C
Esophagus Mucosaeqtl1.2e-36+0.3913:49690044:G:A
Brain Frontal Cortex BA9eqtl7.2e-35-0.7513:49759746:G:T

FANTOM5 promoters

1 alternative TSS:

Promoter IDTPM avgSamples expressed
13732573.72891815

Top tissues by expression

showing 100 of 137 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
right lobe of liverUBERON:000111497.05gold quality
left adrenal gland cortexUBERON:003582596.25gold quality
left adrenal glandUBERON:000123496.02gold quality
esophagus mucosaUBERON:000246995.98gold quality
right adrenal glandUBERON:000123395.86gold quality
right adrenal gland cortexUBERON:003582795.65gold quality
body of pancreasUBERON:000115095.55gold quality
vaginaUBERON:000099695.45gold quality
olfactory segment of nasal mucosaUBERON:000538695.24gold quality
liverUBERON:000210795.11gold quality
lower esophagus mucosaUBERON:003583494.88gold quality
adrenal glandUBERON:000236994.59gold quality
ectocervixUBERON:001224994.47gold quality
skin of abdomenUBERON:000141694.24gold quality
mucosa of transverse colonUBERON:000499194.13gold quality
left ovaryUBERON:000211993.97gold quality
pancreasUBERON:000126493.78gold quality
ovaryUBERON:000099293.75gold quality
zone of skinUBERON:000001493.57gold quality
endocervixUBERON:000045893.39gold quality
right ovaryUBERON:000211893.34gold quality
skin of legUBERON:000151193.17gold quality
body of stomachUBERON:000116192.72gold quality
esophagusUBERON:000104392.71gold quality
uterine cervixUBERON:000000292.51gold quality
fallopian tubeUBERON:000388992.27gold quality
left uterine tubeUBERON:000130392.08gold quality
fundus of stomachUBERON:000116092.05gold quality
endometriumUBERON:000129591.99gold quality
minor salivary glandUBERON:000183091.84gold quality
saliva-secreting glandUBERON:000104491.76gold quality
prostate glandUBERON:000236791.47gold quality
transverse colonUBERON:000115791.25gold quality
rectumUBERON:000105291.24gold quality
embryoUBERON:000092291.19gold quality
ganglionic eminenceUBERON:000402391.19gold quality
stomachUBERON:000094591.17gold quality
body of uterusUBERON:000985391.17gold quality
myometriumUBERON:000129691.04gold quality
tibial nerveUBERON:000132390.95gold quality
ventricular zoneUBERON:000305390.93gold quality
upper lobe of left lungUBERON:000895290.93gold quality
islet of LangerhansUBERON:000000690.92gold quality
adrenal tissueUBERON:001830390.59gold quality
cortical plateUBERON:000534390.55gold quality
thoracic mammary glandUBERON:000520090.39gold quality
lungUBERON:000204890.20gold quality
hypothalamusUBERON:000189890.18gold quality
omental fat padUBERON:001041490.12gold quality
colonUBERON:000115590.11gold quality
urinary bladderUBERON:000125590.08gold quality
muscle layer of sigmoid colonUBERON:003580589.99gold quality
descending thoracic aortaUBERON:000234589.88gold quality
right lobe of thyroid glandUBERON:000111989.84gold quality
esophagogastric junction muscularis propriaUBERON:003584189.74gold quality
ascending aortaUBERON:000149689.68gold quality
thoracic aortaUBERON:000151589.67gold quality
cortex of kidneyUBERON:000122589.56gold quality
left coronary arteryUBERON:000162689.46gold quality
right lungUBERON:000216789.39gold quality
lower esophagusUBERON:001347389.27gold quality
lower esophagus muscularis layerUBERON:003583389.24gold quality
left lobe of thyroid glandUBERON:000112089.04gold quality
thyroid glandUBERON:000204689.03gold quality
intestineUBERON:000016089.00gold quality
stromal cell of endometriumCL:000225588.98gold quality
adipose tissueUBERON:000101388.95gold quality
smooth muscle tissueUBERON:000113588.92gold quality
right uterine tubeUBERON:000130288.57gold quality
placentaUBERON:000198788.55gold quality
tibial arteryUBERON:000761088.50gold quality
popliteal arteryUBERON:000225088.48gold quality
right coronary arteryUBERON:000162588.47gold quality
material anatomical entityUBERON:000046588.44gold quality
multicellular organismUBERON:000046888.44gold quality
anatomical systemUBERON:000046788.43gold quality
monocyteCL:000057688.33gold quality
tonsilUBERON:000237288.32gold quality
leukocyteCL:000073888.25gold quality
metanephros cortexUBERON:001053388.18gold quality
calcaneal tendonUBERON:000370188.17gold quality
subcutaneous adipose tissueUBERON:000219088.11gold quality
amygdalaUBERON:000187687.86gold quality
temporal lobeUBERON:000187187.75gold quality
substantia nigraUBERON:000203887.59gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047387.54gold quality
anterior cingulate cortexUBERON:000983587.40gold quality
mucosa of stomachUBERON:000119987.39gold quality
spleenUBERON:000210686.74gold quality
adult mammalian kidneyUBERON:000008286.73gold quality
Ammon’s hornUBERON:000195486.71gold quality
C1 segment of cervical spinal cordUBERON:000646986.69gold quality
kidneyUBERON:000211386.58gold quality
dorsolateral prefrontal cortexUBERON:000983486.55gold quality
Brodmann (1909) area 9UBERON:001354086.25gold quality
bone marrowUBERON:000237186.24gold quality
duodenumUBERON:000211486.17gold quality
small intestine Peyer’s patchUBERON:000345486.12gold quality
lymph nodeUBERON:000002986.07gold quality
small intestineUBERON:000210885.96gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 9.

ExperimentMarker?Max mean expression
E-MTAB-5061yes402.54
E-HCAD-4yes85.30
E-CURD-114yes61.81
E-GEOD-125970yes45.81
E-MTAB-10042yes13.76
E-HCAD-1yes13.13
E-MTAB-6701yes11.70
E-CURD-112yes8.61
E-HCAD-6no30.13
E-GEOD-81608no8.15
E-ENAD-27no4.27
E-ANND-3no0.00

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 78 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Livertissue92.8high
Vaginatissue37.6medium
Esophagustissue28.6high
Ovarytissue24.1not detected
Pancreastissue22.2high
Breasttissue21.7medium
Adrenal glandtissue21.4medium
Salivary glandtissue20.7high
Skin 1tissue20.3medium
Colontissue18.9medium
Bone marrowtissue18.7low
Fallopian tubetissue17.5high
Prostatetissue17.0low
Cervixtissue15.9medium
Rectumtissue15.2medium
Endometrium 1tissue14.3low
Thyroid glandtissue14.2not detected
Urinary bladdertissue13.4high
Lungtissue13.3medium
Duodenumtissue13.3high
Choroid plexustissue12.9
Seminal vesicletissue12.7medium
Smooth muscletissue12.4not detected
Stomach 1tissue12.1high
Locus coeruleustissue11.7
Appendixtissue11.3medium
Small intestinetissue11.0medium
Placentatissue10.5not detected
Gallbladdertissue10.3low
Tonsiltissue10.3medium
Lymph nodetissue10.1not detected
Adipose tissuetissue10.0not detected
Parathyroid glandtissue9.8not detected
Thymustissue9.6
Postcentral gyrustissue9.1
Hippocampustissue8.9not detected
Spinal cordtissue8.8
Kidneytissue8.5not detected
Corpus callosumtissue7.8
Nucleus accumbenstissue7.5
Testistissue7.4medium
Pituitary glandtissue7.2
Spleentissue7.2not detected
Medulla oblongatatissue7.1
Midbraintissue6.5
Epididymistissue6.2medium
Hippocampal formationtissue6.0
Substantia nigratissue5.8
Thalamustissue5.7
Periaqueductal graytissue5.7
Cerebral cortextissue5.5not detected
Somatosensory cortextissue5.5
Superior colliculitissue5.4
Ponstissue5.1
Putamentissue4.8
Entorhinal cortextissue4.8
Occipital cortextissue4.7
Prefrontal cortextissue4.6
Amygdalatissue4.5
Ventral forebraintissue4.5

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Dorsal funiculus (white matter) (15.0), Blood vessel (14.3), Cervical spinal cord, ventral horn (13.6), Cervical spinal cord, dorsal horn (13.4), Lateral funiculus (white matter) (13.4).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting EBPL by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 34 miRNAs:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-126-5P100.0072.713180
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-56899.9869.862084
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753
HSA-MIR-548T-3P99.9670.643753
HSA-MIR-1-3P99.9372.351914
HSA-MIR-20699.9372.501893
HSA-MIR-61399.9171.501710
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-4446-5P99.7269.192544
HSA-MIR-7154-5P99.6970.521900
HSA-MIR-7156-5P99.6468.811369
HSA-MIR-510-3P99.5470.062965
HSA-MIR-6833-5P99.5068.931161
HSA-MIR-427399.4567.931206
HSA-MIR-120699.3069.321016
HSA-MIR-6739-3P99.2268.841843
HSA-MIR-10399-5P99.1769.872610
HSA-MIR-6504-3P99.1769.312891
HSA-MIR-392698.9569.261438
HSA-MIR-806098.6166.931187
HSA-MIR-446398.5666.051071
HSA-MIR-548S98.5067.171213
HSA-MIR-211798.4867.971307
HSA-MIR-6883-3P97.9767.35643
HSA-MIR-3190-3P97.6166.951406
HSA-MIR-4670-3P97.3768.351378
HSA-MIR-3194-5P96.8064.901027
HSA-MIR-449196.5366.20935

Functional genomics

gnomAD constraint: pLI 6.17e-09, LOEUF 1.41, missense Z 0.0541 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000242827 splits into 2 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)Missense obs / expo/eConstrained
13:49,660,971–49,663,06449 / 94.10.52no
13:49,663,065–49,691,424170 / 167.01.02no

Literature-anchored findings (GeneRIF, showing 1)

  • encoded by four exons on human chromosome 13q14.2 covering 30.7 kb, and a partially processed EBPL pseudogene was found on 16q21; expressed ubiquitously and most abundant in liver, lung and kidney (PMID:12760743)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioebplENSDARG00000036636
mus_musculusEbplENSMUSG00000021928
rattus_norvegicusEbplENSRNOG00000014659

Paralogs (1): EBP (ENSG00000147155)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Ailanthus altissimusA0A9Y1LNE175.1%Diamond
Cavia porcellusQ6049074.0%Diamond
Arabidopsis thalianaO4896260.3%Diamond
Oryza sativa Japonica GroupQ9FTZ260.3%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
KPNA3protein-coding3839
ARL11protein-coding115761
RCBTB1protein-coding55213

Protein

Protein identifiers

Emopamil-binding protein-like — Q9BY08 (reviewed: Q9BY08)

Alternative names: Emopamil-binding-related protein

All UniProt accessions (3): A0A0A0MRV2, Q6GPH7, Q9BY08

UniProt curated annotations — full annotation on UniProt →

Function. Does not possess sterol isomerase activity and does not bind sigma ligands.

Subunit / interactions. Homodimer.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Widely expressed with highest levels in liver, lung and kidney.

Similarity. Belongs to the EBP family.

Isoforms (5)

UniProt IDNamesCanonical?
Q9BY08-11yes
Q9BY08-22
Q9BY08-33
Q9BY08-44
Q9BY08-55

RefSeq proteins (2): NP_001265565, NP_115954* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR007905EBPFamily
IPR033118EXPERADomain

Pfam: PF05241

UniProt features (16 total): splice variant 9, transmembrane region 4, chain 1, sequence conflict 1, domain 1

Structure

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9BY08-F194.060.92

Human Protein Atlas

Protein class: Predicted membrane proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): endoplasmic reticulum

Antibody reliability (HPA): IH enhanced · IF supported

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 122 (showing top): HORIUCHI_WTAP_TARGETS_DN, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_LIPID_METABOLIC_PROCESS, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, CHIANG_LIVER_CANCER_SUBCLASS_CTNNB1_UP, KONDO_PROSTATE_CANCER_HCP_WITH_H3K27ME3, GOBP_STEROID_METABOLIC_PROCESS, chr13q14, OSMAN_BLADDER_CANCER_DN, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY_TRANSPOSING_C_C_BONDS, GOMF_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY, GOMF_ISOMERASE_ACTIVITY

GO Biological Process (1): sterol metabolic process (GO:0016125)

GO Molecular Function (1): cholestenol delta-isomerase activity (GO:0047750)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

GO top-level categories

9 GO namespaces:

CategoryTerms
steroid metabolic process1
intramolecular oxidoreductase activity, transposing C=C bonds1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
cellular anatomical structure1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 5 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO termNSEvidence
endoplasmic reticulumCCdirect assay

Protein interactions and networks

STRING

showing 15 of 590 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
EBPLSPRYD7Q5W111598
EBPLKPNA3O00505567
EBPLRCBTB1Q8NDN9552
EBPLDLEU7Q6UYE1521
EBPLWDR13Q9H1Z4486
EBPLCAB39LQ9H9S4486
EBPLMOSPD1Q9UJG1476
EBPLTSR3Q9UJK0473
EBPLCDADC1Q9BWV3472
EBPLSPMIP7A4D263469
EBPLDHCR7Q9UBM7464
EBPLTBC1D25Q3MII6463
EBPLITM2BQ9Y287458
EBPLTMEM158Q8WZ71447
EBPLNUFIP2Q7Z417439

IntAct

Human interaction partners of EBPL in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

PartnerInteraction typeMIscoreRecords
HNRNPUphysical association0.4001
DEPDC1Bphysical association0.3701

BioGRID (2 interactions; top human partners by supporting records): DEPDC1B (Two-hybrid), NLGN3 (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for EBPL: 41 ClinVar records (0 pathogenic / likely pathogenic); 4 GWAS associations.

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance30
Likely benign3
Benign0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 25 predictions of 312):

Position(s)EffectΔscoreSites
13:49691253donor_loss1.0000
13:49661209–49661210acceptor_loss0.99006
13:49663055–49663056donor_loss0.99005
13:49663196acceptor_gain0.9900
13:49663196–49663197acceptor_loss0.99005
13:49691252–49691253donor_loss0.99002
13:49661212acceptor_gain0.9800
13:49663055donor_loss0.9800
13:49691252–49691253donor_loss0.97002
13:49672339donor_gain0.9400

AlphaMissense

188 missense substitutions predicted likely pathogenic (of 1,309 scored), across 79 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
D8870.7630.821
W9160.7840.867
F6160.7810.938
W4660.7420.899
W8160.7260.859
R9050.7740.818
F14650.7740.899
W17650.7550.804
E13850.7170.792
Y8450.6920.767
M14450.6360.655
C13540.7840.845
E5840.7620.854
E10240.7450.794
H5440.7360.788
G11040.6770.729
F12930.7910.791
S15430.7710.771
Q13130.7570.833
K8230.7230.791

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

CancerPrognosticp-value
Pancreatic Adenocarcinoma (validation)unfavorable5.31e-05
Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma (TCGA)unfavorable0.000473

Disease associations

OMIM: gene MIM:617335 | disease phenotypes:

GWAS associations

4 associations:

StudyTraitp-value
GCST010002_238Refractive error1e-36
GCST90020028_1169Hip circumference adjusted for BMI1e-14
GCST012227_153Hip circumference adjusted for BMI2e-12
GCST007052_4Lipoprotein (a) levels1e-6

EFO canonical traits (from GWAS)

2 canonical traits:

EFO IDTrait name
EFO:0006925lipoprotein A measurement
EFO:0008039BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2311238 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 193,477 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

2 molecules by phase:

MoleculeNamePhasePatents
CHEMBL83TAMOXIFEN4173,287
CHEMBL422TRIFLUOPERAZINE420,190

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

132 measured of 132 human assays (132 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

LigandMeasureValuePatent
CHEMBL2314420KI1.7 nM
7-[2-[(5-Chloro-6-cyclohexyl-3- pyridyl)oxy]ethyl]-26-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI1.96 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-((1-(4- (Trifluoromethyl)phenoxy) cyclobutyl)methyl)-2-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI3.7 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(2-{4-[(1Z)-1,2-diphenylbut-1-en-1-yl]phenoxy}ethyl)dimethylamineKI5 nM
(R)-6-(3-(4-cyclobutylphenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxide (S)-6-(3-(4-cyclobutylphenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxideKI5.14 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-((6-((trans)-4- (Trifluoromethyl)cyclohexyl) pyridin-3-yl)oxy)ethyl)-2-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI5.72 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(R)-6-(3-(4-cyclobutylphenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxide (S)-6-(3-(4-cyclobutylphenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxideKI6.54 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-(4- (Trifluoromethoxy)phenoxy)ethyl)- 2-thia-7-azaspiro[3.5]nonane 2,2-dioxideKI6.54 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2,2-Dimethyl-3-(4- (trifluoromethyl)phenyl)propyl)- 2-thia-7-azaspiro[3.5]nonane- 2,2-dioxideKI7.23 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(S)-6-(2-Methyl-3-(4- (trifluoromethoxy)phenyl)propyl)- 2-thia-6-azaspiro[3.4]octane 2,2-dioxide (R)-6-(2-Methyl-3-(4- (trifluoromethoxy)phenyl)propyl)- 2-thia-6-azaspiro[3.4]octane 2,2-dioxideKI7.27 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-(4-Chloro-3- fluorophenoxy)-2- methylpropyl)-2-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI7.31 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-(3-Fluoro-4- (trifluoromethyl)phenoxy)ethyl)- 2-thia-7-azaspiro[3.5]nonane 2,2-dioxideKI7.95 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
cid_2913535KI8 nM
6-3-(4-(2,2- Dimethylcyclopropyl)phenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxideKI8.31 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-2-Methyl-3-(4-(tert- pentyl)phenyl)propyl)-2-thia-7- azaspiro[4.4]nonane 2,2-dioxideKI8.38 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-Methyl-3-(4-(tert- pentyl)phenyl)propyl)-2-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI8.44 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
6-(2-Methyl-3-(4-(1- methylcyclopropyl)phenyl)propyl)- 2-thia-6-azaspiro[3.4]octane 2,2-dioxideKI8.57 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-((6-((cis)-4- (trifluoromethyl)cyclohexyl) pyridin-3-yl)oxy)ethyl)-2-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI8.97 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-(4- (Trifluoromethyl)phenoxy)ethyl)- 2-thia-7-azaspiro[3.5]nonane 2,2-dioxideKI9.29 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
6-((S)-3-(3-Chloro-4-((1s,4R)-4- hydroxy-4- (trifluoromethyl)cyclohexyl)phenyl)- 2-methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxideKI9.31 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(S)-6-(3-(3-Chloro-4-(4,4- difluorocyclohexyl)phenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxide (R)-6-(3-(3-Chloro-4-(4,4- difluorocyclohexyl)phenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxideKI9.43 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
6-(3-(4- (Trifluoromethyl)phenyl)propyl)- 2-thia-6-azaspiro[3.4]octane- 2,2-dioxideKI9.45 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
6-(3-(4-Cyclopropylphenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxideKI9.72 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(R)-7-(2-(4- (trifluoromethyl)phenoxy)propyl)- 2-thia-7-azaspiro[3.5]nonane 2,2-dioxideKI9.8 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(S)-6-(3-(3-Chloro-4-(4,4- difluorocyclohexyl)phenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxide (R)-6-(3-(3-Chloro-4-(4,4- difluorocyclohexyl)phenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxideKI9.86 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(S)-7-(2-Methyl-3-(4- (trifluoromethyl)phenyl)propyl)- 2-thia-7-azaspiro[3.5]nonane 2,2-dioxideKI9.98 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-(3,4- Difluorophenoxy)ethyl)-2-thia- 7-azaspiro[3.5]nonane 2,2- dioxideKI10 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(S)-7-(2-(3,4- Difluorophenoxy)propyl)-2-thia- 7-azaspiro[3.5]nonane 2,2- dioxideKI10 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(R)-7-(3-(3,4-difluorophenyl)-2- methylpropyl)-2-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI10.1 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
6-((S)-3-(3-Chloro-4-((1s,4R)-4- hydroxy-4- (trifluoromethyl)cyclohexyl)phenyl)- 2-methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxideKI10.5 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(S)-6-(2-Methyl-3-(4- (trifluoromethoxy)phenyl)propyl)- 2-thia-6-azaspiro[3.4]octane 2,2-dioxide (R)-6-(2-Methyl-3-(4- (trifluoromethoxy)phenyl)propyl)- 2-thia-6-azaspiro[3.4]octane 2,2-dioxideKI10.5 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(R)-7-(2-(3,4- difluorophenoxy)propyl)-2-thia- 7-azaspiro[3.5]nonane 2,2- dioxideKI10.6 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-((6-Cyclohexyl-5- (trifluoromethyl)pyridin-3- yl)oxy)ethyl)-2-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI10.7 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
6-((R)-3-(3-Chloro-4-((1r,4R)-4- hydroxy-4- methylcyclohexyl)phenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxide 6-((S)-3-(3-chloro-4-((1r,4S)-4- hydroxy-4- methylcyclohexyl)phenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxide 6-((S)-3-(3-Chloro-4-((1r,4S)-4- hydroxy-4- methylcyclohexyl)phenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxideKI11 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
6-((R)-3-(3-Chloro-4-((1r,4R)-4- hydroxy-4- methylcyclohexyl)phenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxide 6-((S)-3-(3-chloro-4-((1r,4S)-4- hydroxy-4- methylcyclohexyl)phenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxide 6-((S)-3-(3-Chloro-4-((1r,4S)-4- hydroxy-4- methylcyclohexyl)phenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxideKI11.9 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-(4-Fluoro-3- (trifluoromethyl)phenoxy)-2- methylpropyl)-2-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI11.9 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(3-(4- (Trifluoromethoxy)phenyl)propyl)- 2-thia-7-azaspiro[3.5]nonane 2,2-dioxideKI12 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-((5-Chloro-6-((trans)-4- (trifluoromethyl)cyclohexyl) pyridin-3-yl)oxy)ethyl)-2-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI12.2 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
2-[(2S)-2-methyl-3-[4-(trifluoromethyl)phenyl]propyl]-7lambda6-thia-2-azaspiro[3.5]nonane 7,7-dioxideKI12.7 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-(3-Fluoro-4- (trifluoromethyl)phenoxy)-2- methylpropyl)-2-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI12.8 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
6-(4-(4-(tert- Pentyl)phenyl)butan-2-yl)-2- thia-6-azaspiro[3.4]octane 2,2- dioxideKI12.9 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
2-(2-(4- (Trifluoromethyl)phenoxy)ethyl)- 7-thia-2-azaspiro[3.5]nonane 7,7-dioxideKI13 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-[2-[[5-Chloro-6- (trifluoromethyl)-3- pyridyl]oxy]ethyl]-26-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI13.1 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-(4-Chloro-3- fluorophenoxy)ethyl)-2-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI13.2 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-Methyl-2-(3- (trifluoromethyl)phenoxy)propyl)- 2-thia-7-azaspiro[3.5]nonane 2,2-dioxideKI13.2 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(R)-6-(2-(4- (Trifluoromethyl)phenoxy)propyl)- 2-thia-6-azaspiro[3.4]octane 2,2-dioxide (S)-6-(2-(4- (Trifluoromethyl)phenoxy)propyl)- 2-thia-6-azaspiro[3.4]octane 2,2-dioxideKI13.5 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
7-(2-(3,4-Difluorophenoxy)-2- methylpropyl)-2-thia-7- azaspiro[3.5]nonane 2,2-dioxideKI13.9 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
2-(2-Methyl-2-(4- (trifluoromethyl)phenoxy)propyl)- 7-thia-2-azaspiro[3.5]nonane 7,7-dioxideKI13.9 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
2-[(2R)-2-methyl-3-[4-(trifluoromethyl)phenyl]propyl]-7lambda6-thia-2-azaspiro[3.5]nonane 7,7-dioxideKI13.9 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(S)-6-(3-(1-Isopropyl-3- (trifluoromethyl)-1H-pyrazol-5- yl)-2-methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxide (R)-6-(3-(1-isopropyl-3- (trifluoromethyl)-1H-pyrazol-5- yl)-2-methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxideKI14 nMUS-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
8.76Ki1.72nMCHEMBL2314420
8.55Ki2.8nMTAMOXIFEN
8.41Ki3.9nMTRIFLUOPERAZINE
5.85Ki1400nM[18F]FLUSPIDINE

PubChem BioAssay actives

4 with measured affinity, of 4 total; 4 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
1-[2-(3-hydroperoxy-4-methoxyphenyl)ethyl]-4-(3-phenylpropyl)piperazine723649: Binding affinity to emopamil binding protein (unknown origin)ki0.0017uM
Tamoxifen723649: Binding affinity to emopamil binding protein (unknown origin)ki0.0028uM
Trifluoperazine723649: Binding affinity to emopamil binding protein (unknown origin)ki0.0039uM
1’-benzyl-1-(2-(17F)fluoroethyl)spiro[1H-2-benzofuran-3,4’-piperidine]723649: Binding affinity to emopamil binding protein (unknown origin)ki1.4000uM

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, affects cotreatment, increases abundance, increases expression3
Air Pollutantsdecreases expression, increases abundance2
Arsenicaffects cotreatment, increases abundance, increases expression2
Benzo(a)pyrenedecreases expression, decreases methylation2
Particulate Matterincreases abundance, decreases expression2
aristolochic acid Idecreases expression1
triphenyl phosphateaffects expression1
CGP 52608affects binding, increases reaction1
entinostatincreases expression1
K 7174decreases expression1
abrinedecreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Temozolomideincreases expression1
Acetaminophendecreases expression1
Cisplatindecreases expression1
Estradiolaffects cotreatment, decreases expression1
Formaldehydedecreases expression1
Gallic Aciddecreases expression1
Methyl Methanesulfonatedecreases expression1
Thiramdecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Tretinoindecreases expression1
Urethanedecreases expression1
Valproic Aciddecreases expression1
Sodium Seleniteincreases expression1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL2320419BindingBinding affinity to emopamil binding protein (unknown origin)Synthesis and biological evaluation of ¹⁸F labeled fluoro-oligo-ethoxylated 4-benzylpiperazine derivatives for sigma-1 receptor imaging. — *Bioorg Med Chem*

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for EBPL across ~30M SureChEMBL compounds — explore on Sugi Predict.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.