EBPL
gene geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:18061 |
| Approved symbol | EBPL |
| Name | EBP like |
| Location | 13q14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EBRP |
| Ensembl gene | ENSG00000123179 |
| Ensembl biotype | protein_coding |
| OMIM | 617335 |
| Entrez | 84650 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00001816161 | 49660674 | 49661208 |
| ENSE00001827833 | 49691254 | 49691486 |
| ENSE00003502877 | 49669777 | 49669846 |
| ENSE00003673328 | 49663057 | 49663195 |
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:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Adipose Subcutaneous | eqtl | 8.8e-85 | -0.68 | 13:49709253:T:C |
| Artery Tibial | eqtl | 1.6e-83 | -0.70 | 13:49709253:T:C |
| Skin Sun Exposed Lower leg | eqtl | 1.6e-73 | -0.67 | 13:49691612:G:C |
| Whole Blood | eqtl | 1.2e-68 | -0.51 | 13:49709253:T:C |
| Skin Not Sun Exposed Suprapubic | eqtl | 5.2e-64 | -0.68 | 13:49691612:G:C |
| Nerve Tibial | eqtl | 2.8e-63 | -0.85 | 13:49731167:C:T |
| Esophagus Muscularis | eqtl | 1.5e-58 | -0.89 | 13:49691102:C:T |
| Thyroid | eqtl | 3.4e-57 | -0.58 | 13:49709253:T:C |
| Adipose Visceral Omentum | eqtl | 7.1e-57 | -0.52 | 13:49709253:T:C |
| Cells Cultured fibroblasts | eqtl | 5.1e-52 | -0.40 | 13:49692408:A:G |
| Artery Aorta | eqtl | 1.6e-49 | -0.93 | 13:49691102:C:T |
| Testis | eqtl | 6.4e-48 | -1.08 | 13:49691102:C:T |
| Muscle Skeletal | eqtl | 1.9e-42 | -0.43 | 13:49692408:A:G |
| Esophagus Gastroesophageal Junction | eqtl | 4.1e-40 | -1.05 | 13:49731167:C:T |
| Lung | eqtl | 8.0e-39 | -0.44 | 13:49709253:T:C |
| Cells EBV-transformed lymphocytes | eqtl | 2.9e-38 | -0.56 | 13:49691973:T:C |
| Skin Not Sun Exposed Suprapubic | sqtl | 1.4e-37 | +1.98 | 13:49775762:G:A |
| Colon Sigmoid | eqtl | 4.1e-37 | -0.97 | 13:49691612:G:C |
| Esophagus Mucosa | eqtl | 1.2e-36 | +0.39 | 13:49690044:G:A |
| Brain Frontal Cortex BA9 | eqtl | 7.2e-35 | -0.75 | 13:49759746:G:T |
FANTOM5 promoters
1 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 137325 | 73.7289 | 1815 |
Top tissues by expression
showing 100 of 137 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 97.05 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.25 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.02 | gold quality |
| esophagus mucosa | UBERON:0002469 | 95.98 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.86 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.65 | gold quality |
| body of pancreas | UBERON:0001150 | 95.55 | gold quality |
| vagina | UBERON:0000996 | 95.45 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.24 | gold quality |
| liver | UBERON:0002107 | 95.11 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.88 | gold quality |
| adrenal gland | UBERON:0002369 | 94.59 | gold quality |
| ectocervix | UBERON:0012249 | 94.47 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.24 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.13 | gold quality |
| left ovary | UBERON:0002119 | 93.97 | gold quality |
| pancreas | UBERON:0001264 | 93.78 | gold quality |
| ovary | UBERON:0000992 | 93.75 | gold quality |
| zone of skin | UBERON:0000014 | 93.57 | gold quality |
| endocervix | UBERON:0000458 | 93.39 | gold quality |
| right ovary | UBERON:0002118 | 93.34 | gold quality |
| skin of leg | UBERON:0001511 | 93.17 | gold quality |
| body of stomach | UBERON:0001161 | 92.72 | gold quality |
| esophagus | UBERON:0001043 | 92.71 | gold quality |
| uterine cervix | UBERON:0000002 | 92.51 | gold quality |
| fallopian tube | UBERON:0003889 | 92.27 | gold quality |
| left uterine tube | UBERON:0001303 | 92.08 | gold quality |
| fundus of stomach | UBERON:0001160 | 92.05 | gold quality |
| endometrium | UBERON:0001295 | 91.99 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.84 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 91.76 | gold quality |
| prostate gland | UBERON:0002367 | 91.47 | gold quality |
| transverse colon | UBERON:0001157 | 91.25 | gold quality |
| rectum | UBERON:0001052 | 91.24 | gold quality |
| embryo | UBERON:0000922 | 91.19 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.19 | gold quality |
| stomach | UBERON:0000945 | 91.17 | gold quality |
| body of uterus | UBERON:0009853 | 91.17 | gold quality |
| myometrium | UBERON:0001296 | 91.04 | gold quality |
| tibial nerve | UBERON:0001323 | 90.95 | gold quality |
| ventricular zone | UBERON:0003053 | 90.93 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 90.93 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.92 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.59 | gold quality |
| cortical plate | UBERON:0005343 | 90.55 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 90.39 | gold quality |
| lung | UBERON:0002048 | 90.20 | gold quality |
| hypothalamus | UBERON:0001898 | 90.18 | gold quality |
| omental fat pad | UBERON:0010414 | 90.12 | gold quality |
| colon | UBERON:0001155 | 90.11 | gold quality |
| urinary bladder | UBERON:0001255 | 90.08 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 89.99 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.88 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.84 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 89.74 | gold quality |
| ascending aorta | UBERON:0001496 | 89.68 | gold quality |
| thoracic aorta | UBERON:0001515 | 89.67 | gold quality |
| cortex of kidney | UBERON:0001225 | 89.56 | gold quality |
| left coronary artery | UBERON:0001626 | 89.46 | gold quality |
| right lung | UBERON:0002167 | 89.39 | gold quality |
| lower esophagus | UBERON:0013473 | 89.27 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 89.24 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 89.04 | gold quality |
| thyroid gland | UBERON:0002046 | 89.03 | gold quality |
| intestine | UBERON:0000160 | 89.00 | gold quality |
| stromal cell of endometrium | CL:0002255 | 88.98 | gold quality |
| adipose tissue | UBERON:0001013 | 88.95 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 88.92 | gold quality |
| right uterine tube | UBERON:0001302 | 88.57 | gold quality |
| placenta | UBERON:0001987 | 88.55 | gold quality |
| tibial artery | UBERON:0007610 | 88.50 | gold quality |
| popliteal artery | UBERON:0002250 | 88.48 | gold quality |
| right coronary artery | UBERON:0001625 | 88.47 | gold quality |
| material anatomical entity | UBERON:0000465 | 88.44 | gold quality |
| multicellular organism | UBERON:0000468 | 88.44 | gold quality |
| anatomical system | UBERON:0000467 | 88.43 | gold quality |
| monocyte | CL:0000576 | 88.33 | gold quality |
| tonsil | UBERON:0002372 | 88.32 | gold quality |
| leukocyte | CL:0000738 | 88.25 | gold quality |
| metanephros cortex | UBERON:0010533 | 88.18 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.17 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 88.11 | gold quality |
| amygdala | UBERON:0001876 | 87.86 | gold quality |
| temporal lobe | UBERON:0001871 | 87.75 | gold quality |
| substantia nigra | UBERON:0002038 | 87.59 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.54 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 87.40 | gold quality |
| mucosa of stomach | UBERON:0001199 | 87.39 | gold quality |
| spleen | UBERON:0002106 | 86.74 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 86.73 | gold quality |
| Ammon’s horn | UBERON:0001954 | 86.71 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 86.69 | gold quality |
| kidney | UBERON:0002113 | 86.58 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 86.55 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.25 | gold quality |
| bone marrow | UBERON:0002371 | 86.24 | gold quality |
| duodenum | UBERON:0002114 | 86.17 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 86.12 | gold quality |
| lymph node | UBERON:0000029 | 86.07 | gold quality |
| small intestine | UBERON:0002108 | 85.96 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 402.54 |
| E-HCAD-4 | yes | 85.30 |
| E-CURD-114 | yes | 61.81 |
| E-GEOD-125970 | yes | 45.81 |
| E-MTAB-10042 | yes | 13.76 |
| E-HCAD-1 | yes | 13.13 |
| E-MTAB-6701 | yes | 11.70 |
| E-CURD-112 | yes | 8.61 |
| E-HCAD-6 | no | 30.13 |
| E-GEOD-81608 | no | 8.15 |
| E-ENAD-27 | no | 4.27 |
| E-ANND-3 | no | 0.00 |
HPA expression
RNA tissue specificity: Tissue enhanced
showing 60 of 78 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Liver | tissue | 92.8 | high |
| Vagina | tissue | 37.6 | medium |
| Esophagus | tissue | 28.6 | high |
| Ovary | tissue | 24.1 | not detected |
| Pancreas | tissue | 22.2 | high |
| Breast | tissue | 21.7 | medium |
| Adrenal gland | tissue | 21.4 | medium |
| Salivary gland | tissue | 20.7 | high |
| Skin 1 | tissue | 20.3 | medium |
| Colon | tissue | 18.9 | medium |
| Bone marrow | tissue | 18.7 | low |
| Fallopian tube | tissue | 17.5 | high |
| Prostate | tissue | 17.0 | low |
| Cervix | tissue | 15.9 | medium |
| Rectum | tissue | 15.2 | medium |
| Endometrium 1 | tissue | 14.3 | low |
| Thyroid gland | tissue | 14.2 | not detected |
| Urinary bladder | tissue | 13.4 | high |
| Lung | tissue | 13.3 | medium |
| Duodenum | tissue | 13.3 | high |
| Choroid plexus | tissue | 12.9 | |
| Seminal vesicle | tissue | 12.7 | medium |
| Smooth muscle | tissue | 12.4 | not detected |
| Stomach 1 | tissue | 12.1 | high |
| Locus coeruleus | tissue | 11.7 | |
| Appendix | tissue | 11.3 | medium |
| Small intestine | tissue | 11.0 | medium |
| Placenta | tissue | 10.5 | not detected |
| Gallbladder | tissue | 10.3 | low |
| Tonsil | tissue | 10.3 | medium |
| Lymph node | tissue | 10.1 | not detected |
| Adipose tissue | tissue | 10.0 | not detected |
| Parathyroid gland | tissue | 9.8 | not detected |
| Thymus | tissue | 9.6 | |
| Postcentral gyrus | tissue | 9.1 | |
| Hippocampus | tissue | 8.9 | not detected |
| Spinal cord | tissue | 8.8 | |
| Kidney | tissue | 8.5 | not detected |
| Corpus callosum | tissue | 7.8 | |
| Nucleus accumbens | tissue | 7.5 | |
| Testis | tissue | 7.4 | medium |
| Pituitary gland | tissue | 7.2 | |
| Spleen | tissue | 7.2 | not detected |
| Medulla oblongata | tissue | 7.1 | |
| Midbrain | tissue | 6.5 | |
| Epididymis | tissue | 6.2 | medium |
| Hippocampal formation | tissue | 6.0 | |
| Substantia nigra | tissue | 5.8 | |
| Thalamus | tissue | 5.7 | |
| Periaqueductal gray | tissue | 5.7 | |
| Cerebral cortex | tissue | 5.5 | not detected |
| Somatosensory cortex | tissue | 5.5 | |
| Superior colliculi | tissue | 5.4 | |
| Pons | tissue | 5.1 | |
| Putamen | tissue | 4.8 | |
| Entorhinal cortex | tissue | 4.8 | |
| Occipital cortex | tissue | 4.7 | |
| Prefrontal cortex | tissue | 4.6 | |
| Amygdala | tissue | 4.5 | |
| Ventral forebrain | tissue | 4.5 |
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:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-7156-5P | 99.64 | 68.81 | 1369 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-6833-5P | 99.50 | 68.93 | 1161 |
| HSA-MIR-4273 | 99.45 | 67.93 | 1206 |
| HSA-MIR-1206 | 99.30 | 69.32 | 1016 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-10399-5P | 99.17 | 69.87 | 2610 |
| HSA-MIR-6504-3P | 99.17 | 69.31 | 2891 |
| HSA-MIR-3926 | 98.95 | 69.26 | 1438 |
| HSA-MIR-8060 | 98.61 | 66.93 | 1187 |
| HSA-MIR-4463 | 98.56 | 66.05 | 1071 |
| HSA-MIR-548S | 98.50 | 67.17 | 1213 |
| HSA-MIR-2117 | 98.48 | 67.97 | 1307 |
| HSA-MIR-6883-3P | 97.97 | 67.35 | 643 |
| HSA-MIR-3190-3P | 97.61 | 66.95 | 1406 |
| HSA-MIR-4670-3P | 97.37 | 68.35 | 1378 |
| HSA-MIR-3194-5P | 96.80 | 64.90 | 1027 |
| HSA-MIR-4491 | 96.53 | 66.20 | 935 |
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 / exp | o/e | Constrained |
|---|---|---|---|
| 13:49,660,971–49,663,064 | 49 / 94.1 | 0.52 | no |
| 13:49,663,065–49,691,424 | 170 / 167.0 | 1.02 | no |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ebpl | ENSDARG00000036636 |
| mus_musculus | Ebpl | ENSMUSG00000021928 |
| rattus_norvegicus | Ebpl | ENSRNOG00000014659 |
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.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Ailanthus altissimus | A0A9Y1LNE1 | 75.1% | Diamond |
| Cavia porcellus | Q60490 | 74.0% | Diamond |
| Arabidopsis thaliana | O48962 | 60.3% | Diamond |
| Oryza sativa Japonica Group | Q9FTZ2 | 60.3% | 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).
| Symbol | Type | Entrez |
|---|---|---|
| KPNA3 | protein-coding | 3839 |
| ARL11 | protein-coding | 115761 |
| RCBTB1 | protein-coding | 55213 |
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 ID | Names | Canonical? |
|---|---|---|
| Q9BY08-1 | 1 | yes |
| Q9BY08-2 | 2 | |
| Q9BY08-3 | 3 | |
| Q9BY08-4 | 4 | |
| Q9BY08-5 | 5 |
RefSeq proteins (2): NP_001265565, NP_115954* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007905 | EBP | Family |
| IPR033118 | EXPERA | Domain |
Pfam: PF05241
UniProt features (16 total): splice variant 9, transmembrane region 4, chain 1, sequence conflict 1, domain 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BY08-F1 | 94.06 | 0.92 |
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:
| Category | Terms |
|---|---|
| steroid metabolic process | 1 |
| intramolecular oxidoreductase activity, transposing C=C bonds | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
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 term | NS | Evidence |
|---|---|---|
| endoplasmic reticulum | CC | direct assay |
Protein interactions and networks
STRING
showing 15 of 590 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EBPL | SPRYD7 | Q5W111 | 598 |
| EBPL | KPNA3 | O00505 | 567 |
| EBPL | RCBTB1 | Q8NDN9 | 552 |
| EBPL | DLEU7 | Q6UYE1 | 521 |
| EBPL | WDR13 | Q9H1Z4 | 486 |
| EBPL | CAB39L | Q9H9S4 | 486 |
| EBPL | MOSPD1 | Q9UJG1 | 476 |
| EBPL | TSR3 | Q9UJK0 | 473 |
| EBPL | CDADC1 | Q9BWV3 | 472 |
| EBPL | SPMIP7 | A4D263 | 469 |
| EBPL | DHCR7 | Q9UBM7 | 464 |
| EBPL | TBC1D25 | Q3MII6 | 463 |
| EBPL | ITM2B | Q9Y287 | 458 |
| EBPL | TMEM158 | Q8WZ71 | 447 |
| EBPL | NUFIP2 | Q7Z417 | 439 |
IntAct
Human interaction partners of EBPL in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
2 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| HNRNPU | physical association | 0.400 | 1 |
| DEPDC1B | physical association | 0.370 | 1 |
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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 3 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 25 predictions of 312):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 13:49691253 | donor_loss | 1.0000 | |
| 13:49661209–49661210 | acceptor_loss | 0.9900 | 6 |
| 13:49663055–49663056 | donor_loss | 0.9900 | 5 |
| 13:49663196 | acceptor_gain | 0.9900 | |
| 13:49663196–49663197 | acceptor_loss | 0.9900 | 5 |
| 13:49691252–49691253 | donor_loss | 0.9900 | 2 |
| 13:49661212 | acceptor_gain | 0.9800 | |
| 13:49663055 | donor_loss | 0.9800 | |
| 13:49691252–49691253 | donor_loss | 0.9700 | 2 |
| 13:49672339 | donor_gain | 0.9400 |
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:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| D88 | 7 | 0.763 | 0.821 |
| W91 | 6 | 0.784 | 0.867 |
| F61 | 6 | 0.781 | 0.938 |
| W46 | 6 | 0.742 | 0.899 |
| W81 | 6 | 0.726 | 0.859 |
| R90 | 5 | 0.774 | 0.818 |
| F146 | 5 | 0.774 | 0.899 |
| W176 | 5 | 0.755 | 0.804 |
| E138 | 5 | 0.717 | 0.792 |
| Y84 | 5 | 0.692 | 0.767 |
| M144 | 5 | 0.636 | 0.655 |
| C135 | 4 | 0.784 | 0.845 |
| E58 | 4 | 0.762 | 0.854 |
| E102 | 4 | 0.745 | 0.794 |
| H54 | 4 | 0.736 | 0.788 |
| G110 | 4 | 0.677 | 0.729 |
| F129 | 3 | 0.791 | 0.791 |
| S154 | 3 | 0.771 | 0.771 |
| Q131 | 3 | 0.757 | 0.833 |
| K82 | 3 | 0.723 | 0.791 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
2 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Pancreatic Adenocarcinoma (validation) | unfavorable | 5.31e-05 |
| Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma (TCGA) | unfavorable | 0.000473 |
Disease associations
OMIM: gene MIM:617335 | disease phenotypes:
GWAS associations
4 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST010002_238 | Refractive error | 1e-36 |
| GCST90020028_1169 | Hip circumference adjusted for BMI | 1e-14 |
| GCST012227_153 | Hip circumference adjusted for BMI | 2e-12 |
| GCST007052_4 | Lipoprotein (a) levels | 1e-6 |
EFO canonical traits (from GWAS)
2 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0006925 | lipoprotein A measurement |
| EFO:0008039 | BMI-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:
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL83 | TAMOXIFEN | 4 | 173,287 |
| CHEMBL422 | TRIFLUOPERAZINE | 4 | 20,190 |
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.
| Ligand | Measure | Value | Patent |
|---|---|---|---|
| CHEMBL2314420 | KI | 1.7 nM | |
| 7-[2-[(5-Chloro-6-cyclohexyl-3- pyridyl)oxy]ethyl]-26-thia-7- azaspiro[3.5]nonane 2,2-dioxide | KI | 1.96 nM | US-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-dioxide | KI | 3.7 nM | US-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION |
| (2-{4-[(1Z)-1,2-diphenylbut-1-en-1-yl]phenoxy}ethyl)dimethylamine | KI | 5 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-dioxide | KI | 5.14 nM | US-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-dioxide | KI | 5.72 nM | US-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-dioxide | KI | 6.54 nM | US-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-dioxide | KI | 6.54 nM | US-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-dioxide | KI | 7.23 nM | US-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-dioxide | KI | 7.27 nM | US-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-dioxide | KI | 7.31 nM | US-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-dioxide | KI | 7.95 nM | US-20240400579: SPIROCYCLIC MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION |
| cid_2913535 | KI | 8 nM | |
| 6-3-(4-(2,2- Dimethylcyclopropyl)phenyl)-2- methylpropyl)-2-thia-6- azaspiro[3.4]octane 2,2-dioxide | KI | 8.31 nM | US-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-dioxide | KI | 8.38 nM | US-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-dioxide | KI | 8.44 nM | US-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-dioxide | KI | 8.57 nM | US-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-dioxide | KI | 8.97 nM | US-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-dioxide | KI | 9.29 nM | US-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-dioxide | KI | 9.31 nM | US-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-dioxide | KI | 9.43 nM | US-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-dioxide | KI | 9.45 nM | US-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-dioxide | KI | 9.72 nM | US-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-dioxide | KI | 9.8 nM | US-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-dioxide | KI | 9.86 nM | US-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-dioxide | KI | 9.98 nM | US-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- dioxide | KI | 10 nM | US-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- dioxide | KI | 10 nM | US-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-dioxide | KI | 10.1 nM | US-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-dioxide | KI | 10.5 nM | US-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-dioxide | KI | 10.5 nM | US-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- dioxide | KI | 10.6 nM | US-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-dioxide | KI | 10.7 nM | US-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-dioxide | KI | 11 nM | US-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-dioxide | KI | 11.9 nM | US-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-dioxide | KI | 11.9 nM | US-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-dioxide | KI | 12 nM | US-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-dioxide | KI | 12.2 nM | US-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-dioxide | KI | 12.7 nM | US-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-dioxide | KI | 12.8 nM | US-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- dioxide | KI | 12.9 nM | US-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-dioxide | KI | 13 nM | US-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-dioxide | KI | 13.1 nM | US-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-dioxide | KI | 13.2 nM | US-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-dioxide | KI | 13.2 nM | US-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-dioxide | KI | 13.5 nM | US-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-dioxide | KI | 13.9 nM | US-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-dioxide | KI | 13.9 nM | US-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-dioxide | KI | 13.9 nM | US-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-dioxide | KI | 14 nM | US-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).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.76 | Ki | 1.72 | nM | CHEMBL2314420 |
| 8.55 | Ki | 2.8 | nM | TAMOXIFEN |
| 8.41 | Ki | 3.9 | nM | TRIFLUOPERAZINE |
| 5.85 | Ki | 1400 | nM | [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.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 1-[2-(3-hydroperoxy-4-methoxyphenyl)ethyl]-4-(3-phenylpropyl)piperazine | 723649: Binding affinity to emopamil binding protein (unknown origin) | ki | 0.0017 | uM |
| Tamoxifen | 723649: Binding affinity to emopamil binding protein (unknown origin) | ki | 0.0028 | uM |
| Trifluoperazine | 723649: Binding affinity to emopamil binding protein (unknown origin) | ki | 0.0039 | uM |
| 1’-benzyl-1-(2-(17F)fluoroethyl)spiro[1H-2-benzofuran-3,4’-piperidine] | 723649: Binding affinity to emopamil binding protein (unknown origin) | ki | 1.4000 | uM |
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Particulate Matter | increases abundance, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Gallic Acid | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Sodium Selenite | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2320419 | Binding | Binding 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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.