CYP2W1

Summary

CYP2W1 (cytochrome P450 family 2 subfamily W member 1, HGNC:20243) is a protein-coding gene on chromosome 7p22.3, encoding Cytochrome P450 2W1 (Q8TAV3). A cytochrome P450 monooxygenase that may play a role in retinoid and phospholipid metabolism.

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids.

Source: NCBI Gene 54905 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 1 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_017781

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20243
Approved symbol	CYP2W1
Name	cytochrome P450 family 2 subfamily W member 1
Location	7p22.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20359, MGC34287
Ensembl gene	ENSG00000073067
Ensembl biotype	protein_coding
OMIM	615967
Entrez	54905

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 retained_intron

ENST00000308919, ENST00000340150, ENST00000415893, ENST00000462453, ENST00000468456

RefSeq mRNA: 1 — MANE Select: NM_017781 NM_017781

CCDS: CCDS5319

Canonical transcript exons

ENST00000308919 — 9 exons

Exon	Start	End
ENSE00000667092	985166	985323
ENSE00000976220	984950	985099
ENSE00000976221	986624	986797
ENSE00000976222	987347	987531
ENSE00001087979	988277	988418
ENSE00001389452	984412	984574
ENSE00001403928	983181	983385
ENSE00001411903	988635	989640
ENSE00003650573	987107	987245

Expression profiles

Bgee: expression breadth ubiquitous, 147 present calls, max score 90.94.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4352 / max 130.7533, expressed in 52 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76898	0.3748	45
76900	0.0383	15
76899	0.0221	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	90.94	gold quality
right adrenal gland cortex	UBERON:0035827	90.93	gold quality
right adrenal gland	UBERON:0001233	90.58	gold quality
left adrenal gland cortex	UBERON:0035825	89.26	gold quality
left adrenal gland	UBERON:0001234	89.19	gold quality
adrenal cortex	UBERON:0001235	88.27	gold quality
tendon of biceps brachii	UBERON:0008188	86.75	silver quality
adrenal gland	UBERON:0002369	84.33	gold quality
vena cava	UBERON:0004087	81.21	gold quality
skin of abdomen	UBERON:0001416	81.05	gold quality
skin of leg	UBERON:0001511	79.60	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	78.79	silver quality
triceps brachii	UBERON:0001509	77.61	gold quality
gluteal muscle	UBERON:0002000	77.34	gold quality
zone of skin	UBERON:0000014	77.03	gold quality
medial globus pallidus	UBERON:0002477	76.63	silver quality
inferior olivary complex	UBERON:0002127	75.49	gold quality
globus pallidus	UBERON:0001875	74.97	silver quality
sperm	CL:0000019	74.83	gold quality
sural nerve	UBERON:0015488	74.78	gold quality
trabecular bone tissue	UBERON:0002483	74.48	silver quality
tibial nerve	UBERON:0001323	73.60	gold quality
amniotic fluid	UBERON:0000173	73.57	silver quality
parotid gland	UBERON:0001831	73.05	gold quality
pancreatic ductal cell	CL:0002079	72.93	silver quality
male germ cell	CL:0000015	72.83	gold quality
pharyngeal mucosa	UBERON:0000355	72.58	silver quality
duodenum	UBERON:0002114	72.42	gold quality
cerebellar vermis	UBERON:0004720	72.41	silver quality
body of tongue	UBERON:0011876	71.91	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	19.18
E-ANND-3	yes	2.91

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

43 targeting CYP2W1, 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-4481	100.00	66.42	1669
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-328-5P	99.08	64.65	1000
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-7151-3P	99.04	69.72	2370

Literature-anchored findings (GeneRIF, showing 20)

• CYP2W1 is expressed human colonic and adrenal gland neoplasms, but not normal tissue, and is expressed in rat fetal and adult colon (PMID:16426568)
• The expression of CYP2W1 is colon tumor-specific and is associated with methylation status of the CYP2W1 gene, suggesting a potential causal link between the gene hypomethylation and its enhanced expression. (PMID:17979506)
• Six single nucleotide polymorphisms of CYP2W1 were identified in a Japanese population. (PMID:17998294)
• CYP2W1 variant alleles are common among Caucasian individuals and, of these, the CYP2W1 G541A (Ala181Thr) polymorphism is associated with increased colorectal cancer risk. (PMID:20602611)
• CYP2W1 is catalytically active in the transformation of aflatoxin B1 to cytotoxic products and in the metabolism of indolines, indicating functional intracellular electron transfer. (PMID:20805301)
• a role for human cytochrome P450 2W1 in selective oxidation of lysophospholipids (PMID:22591743)
• study did not detect an association between the CYP2W1, 4F11 and 8A1 genes polymorphisms and breast cancer risk in a Mexican population; however, some clinico-pathological risk factors interact with CYP2W1 genotypes and modifies susceptibility to breast cancer (PMID:22631658)
• Results of the current study were in agreement with those of the previous pilot study and show that higher expression of CYP2W1 seems to be of prognostic value in colon cancer. (PMID:22993331)
• No significant differences in the distribution of CYP2W1*1, CYP2W1*2 and CYP2W1*6 alleles were found between CRC patients and controls. (PMID:24088132)
• High CYP2W1 expression is seen in 26% of primary colorectal tumors and in 48% of corresponding liver metastases. (PMID:24625228)
• CYP2W1 could play an important role in hepatocellular carcinoma (HCC) and might serve as a valuable prognostic marker and potential target for gene therapy in the treatment of HCC. (PMID:24801906)
• CYP2W1 is highly expressed in both normal and neoplastic adrenal glands making it a promising tool for targeted therapy in ACC (PMID:25144458)
• Low KRT13 mRNA expression is associated with oral squamous cell carcinoma. (PMID:25735388)
• Results show the developmental expression of CYP2W1 in the GI tract mediated by epigenetic modifications, its specific location, and regulation by anticancer drugs which can be considered as an adjuvant therapy of colon and hepatic cancers. (PMID:25844926)
• Report novel SNPs of CYP2W1 gene in Chinese Uygur and Han populations. (PMID:26683388)
• Data suggest that canonical cytochrome P-450 reductants (cytochrome P450 reductase; cytochrome b5) cannot serve as electron donors for CYP2W1, a colon tumor-specific enzyme; glycosylation of CYP2W1 at Asn177 is required for full catalytic activity. (PMID:26787547)
• summarizes the history, distribution, polymorphism, membrane topology, function and possible role in cancer therapy of CYP2W1. (PMID:27257736)
• showed that the genetic pattern of CYP2W1 is interethnically different among the three Chinese populations, and this finding can extend our understanding of population genetics of CYP2W1 in the Chinese population (PMID:27307299)
• Normal adrenal tissue lacks CYP2W1 enzyme expression; adrenocortical carcinomas generally do not express the enzyme as well. (PMID:27598485)
• CYP2S1 and CYP2W1 expression is associated with patient survival in breast cancer. (PMID:35902379)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cyp2w1	ENSMUSG00000029541
rattus_norvegicus	Cyp2w1	ENSRNOG00000051770

Paralogs (15): CYP2D6 (ENSG00000100197), CYP2C18 (ENSG00000108242), CYP2E1 (ENSG00000130649), CYP2J2 (ENSG00000134716), CYP2C9 (ENSG00000138109), CYP2C8 (ENSG00000138115), CYP2U1 (ENSG00000155016), CYP2C19 (ENSG00000165841), CYP2S1 (ENSG00000167600), CYP2R1 (ENSG00000186104), CYP2B6 (ENSG00000197408), CYP2F1 (ENSG00000197446), CYP2A13 (ENSG00000197838), CYP2A7 (ENSG00000198077), CYP2A6 (ENSG00000255974)

Protein

Protein identifiers

Cytochrome P450 2W1 — Q8TAV3 (reviewed: Q8TAV3)

Alternative names: CYPIIW1

All UniProt accessions (3): Q8TAV3, A6NJ10, H7C015

UniProt curated annotations — full annotation on UniProt →

Function. A cytochrome P450 monooxygenase that may play a role in retinoid and phospholipid metabolism. Catalyzes the hydroxylation of saturated carbon hydrogen bonds. Hydroxylates all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may regulate atRA clearance. Other retinoids such as all-trans retinol and all-trans retinal are potential endogenous substrates. Catalyzes both epoxidation of double bonds and hydroxylation of carbon hydrogen bonds of the fatty acyl chain of 1-acylphospholipids/2-lysophospholipids. Can metabolize various lysophospholipids classes including lysophosphatidylcholines (LPCs), lysophosphatidylinositols (LPIs), lysophosphatidylserines (LPSs), lysophosphatidylglycerols (LPGs), lysophosphatidylethanolamines (LPEs) and lysophosphatidic acids (LPAs). Has low or no activity toward 2-acylphospholipids/1-lysophospholipids, diacylphospholipids and free fatty acids. May play a role in tumorigenesis by activating procarcinogens such as aflatoxin B1, polycyclic aromatic hydrocarbon dihydrodiols and aromatic amines. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase).

Subcellular location. Endoplasmic reticulum lumen. Cell membrane. Microsome membrane.

Tissue specificity. Very low levels are detected in fetal and adult tissues. Highly expressed in several tumor samples, in particular colon and adrenal tumors.

Similarity. Belongs to the cytochrome P450 family.

RefSeq proteins (1): NP_060251* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001128	Cyt_P450	Family
IPR002401	Cyt_P450_E_grp-I	Family
IPR017972	Cyt_P450_CS	Conserved_site
IPR036396	Cyt_P450_sf	Homologous_superfamily
IPR050182	Cytochrome_P450_fam2	Family

Pfam: PF00067

Catalyzed reactions (Rhea), 5 shown:

• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + reduced [NADPH–hemoprotein reductase] + O2 = 1-[(9R,10S)-epoxy-octadecanoyl]-sn-glycero-3-phosphocholine + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:50320)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + reduced [NADPH–hemoprotein reductase] + O2 = 1-[(9S,10R)-epoxy-octadecanoyl]-sn-glycero-3-phosphocholine + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:50324)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + reduced [NADPH–hemoprotein reductase] + O2 = 1-[8-hydroxy-(9Z)-octadecenoyl]-sn-glycero-3-phosphocholine + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:50328)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + reduced [NADPH–hemoprotein reductase] + O2 = 1-[11-hydroxy-(9Z)-octadecenoyl]-sn-glycero-3-phosphocholine + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:50332)
• all-trans-retinoate + reduced [NADPH–hemoprotein reductase] + O2 = all-trans-4-hydroxyretinoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:51984)

UniProt features (10 total): sequence variant 5, signal peptide 1, chain 1, binding site 1, glycosylation site 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TAV3-F1	92.79	0.82

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 433 (axial binding residue)

Glycosylation sites (1): 177

Mutagenesis-validated functional residues (1):

Position	Phenotype
177	loss of glycosylation.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-211958	Miscellaneous substrates
R-HSA-211981	Xenobiotics

MSigDB gene sets: 109 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, REACTOME_BIOLOGICAL_OXIDATIONS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOBP_REGULATION_OF_HORMONE_LEVELS, GOCC_CELL_SURFACE, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, chr7p22, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_TOXIN_METABOLIC_PROCESS, GOBP_RETINOIC_ACID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS

GO Biological Process (7): obsolete organic acid metabolic process (GO:0006082), phospholipid metabolic process (GO:0006644), xenobiotic metabolic process (GO:0006805), retinoic acid catabolic process (GO:0034653), aflatoxin metabolic process (GO:0046222), cytochrome metabolic process (GO:1903604), lipid metabolic process (GO:0006629)

GO Molecular Function (11): retinoic acid binding (GO:0001972), monooxygenase activity (GO:0004497), all-trans retinal binding (GO:0005503), iron ion binding (GO:0005506), retinoic acid 4-hydroxylase activity (GO:0008401), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712), heme binding (GO:0020037), all-trans-retinol binding (GO:1904768), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705), metal ion binding (GO:0046872)

GO Cellular Component (7): cytoplasm (GO:0005737), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), cell surface (GO:0009986), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cytochrome P450 - arranged by substrate type	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
oxidoreductase activity	2
monooxygenase activity	2
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	2
lipid metabolic process	1
organophosphate metabolic process	1
metabolic process	1
cellular response to xenobiotic stimulus	1
diterpenoid catabolic process	1
fat-soluble vitamin catabolic process	1
retinoic acid metabolic process	1
monocarboxylic acid catabolic process	1
mycotoxin metabolic process	1
protein metabolic process	1
primary metabolic process	1
retinoid binding	1
monocarboxylic acid binding	1
retinal binding	1
transition metal ion binding	1
tetrapyrrole binding	1
retinol binding	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
endoplasmic reticulum	1
intracellular organelle lumen	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1208 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CYP2W1	PPIG	Q13427	523
CYP2W1	CYB5B	O43169	457
CYP2W1	CYB5A	P00167	447
CYP2W1	CYP4A22	Q5TCH4	447
CYP2W1	CYP4F8	P98187	426
CYP2W1	CYP4A11	Q02928	422
CYP2W1	CYP8B1	Q9UNU6	422
CYP2W1	CYP4F11	Q9HBI6	412
CYP2W1	CYP26C1	Q6V0L0	367
CYP2W1	CYP7B1	O75881	364
CYP2W1	CYB5RL	Q6IPT4	364
CYP2W1	CYP51A1	Q16850	359
CYP2W1	CYB5R3	P00387	353
CYP2W1	CYB5R2	Q6BCY4	353
CYP2W1	CYB5R4	Q7L1T6	353
CYP2W1	CYB5R1	Q9UHQ9	353

IntAct

6 interactions, top by confidence:

A	B	Type	Score
CYP2W1	BAG1	psi-mi:“MI:0915”(physical association)	0.400
CYB5A	CYP2W1	psi-mi:“MI:0915”(physical association)	0.370
CYP2W1	ZBTB26	psi-mi:“MI:0915”(physical association)	0.370
CYP2W1	HSPA1L	psi-mi:“MI:0914”(association)	0.350
CYP2W1	TUSC2	psi-mi:“MI:0914”(association)	0.350

BioGRID (17): HSPA1L (Affinity Capture-MS), BAG1 (Affinity Capture-MS), BAG1 (Affinity Capture-MS), HSPA4 (Affinity Capture-MS), HSPA1L (Affinity Capture-MS), STUB1 (Affinity Capture-MS), TUSC2 (Affinity Capture-MS), BAG1 (Affinity Capture-MS), HSPA2 (Affinity Capture-MS), USP19 (Affinity Capture-MS), BAG3 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), BAG5 (Affinity Capture-MS), HSPA1B (Affinity Capture-MS), CYP2W1 (Affinity Capture-MS)

ESM2 similar proteins: A0A087X1C5, E9Q816, O18992, O46658, P00191, P03940, P08686, P10633, P10634, P10635, P11714, P12394, P12938, P12939, P15540, P24456, P24457, P30437, P51589, P51590, P52786, P70085, P78329, Q01361, Q0IIF9, Q29473, Q29488, Q2LA59, Q2LA60, Q2LCM1, Q2XNC8, Q2XNC9, Q4V8D1, Q64403, Q64562, Q64680, Q6GUQ4, Q6VVW9, Q6VVX0, Q7Z449

Diamond homologs: A0A087X1C5, E9Q5K4, F1Q8C3, O18809, O18992, O35293, O46658, O54749, O54750, O55071, O62671, O93297, P00176, P00178, P00179, P00180, P00181, P00182, P04167, P05178, P05179, P05180, P05181, P08682, P08683, P10610, P10632, P10633, P10634, P10635, P11371, P11712, P11714, P12789, P12790, P12791, P12938, P12939, P15123, P17666

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1828 predictions. Top by Δscore:

Variant	Effect	Δscore
7:983381:TGGAG:T	donor_gain	1.0000
7:983382:GGAG:G	donor_gain	1.0000
7:983382:GGAGG:G	donor_gain	1.0000
7:983383:GAG:G	donor_gain	1.0000
7:983383:GAGG:G	donor_gain	1.0000
7:983386:G:GG	donor_gain	1.0000
7:983386:GT:G	donor_loss	1.0000
7:984574:GG:G	donor_loss	1.0000
7:984575:G:A	donor_loss	1.0000
7:984947:CAGG:C	acceptor_loss	1.0000
7:984948:A:AG	acceptor_gain	1.0000
7:984948:A:C	acceptor_loss	1.0000
7:984948:AG:A	acceptor_gain	1.0000
7:984949:G:A	acceptor_loss	1.0000
7:984949:G:GG	acceptor_gain	1.0000
7:984949:GG:G	acceptor_gain	1.0000
7:984949:GGC:G	acceptor_gain	1.0000
7:984949:GGCA:G	acceptor_gain	1.0000
7:984949:GGCAT:G	acceptor_gain	1.0000
7:985321:CAGGT:C	donor_loss	1.0000
7:985322:AGGT:A	donor_loss	1.0000
7:985323:GGT:G	donor_loss	1.0000
7:985324:G:C	donor_loss	1.0000
7:985325:T:A	donor_loss	1.0000
7:986623:GCT:G	acceptor_gain	1.0000
7:986767:C:G	donor_gain	1.0000
7:986795:CAGGT:C	donor_loss	1.0000
7:986796:AG:A	donor_loss	1.0000
7:986797:GG:G	donor_loss	1.0000
7:986798:GT:G	donor_loss	1.0000

AlphaMissense

3087 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:988409:T:C	F426L	0.992
7:988411:C:A	F426L	0.992
7:988411:C:G	F426L	0.992
7:988361:T:C	F410L	0.991
7:988363:C:A	F410L	0.991
7:988363:C:G	F410L	0.991
7:988330:G:C	W399C	0.984
7:988330:G:T	W399C	0.984
7:987446:A:T	E353V	0.983
7:988346:T:C	F405L	0.982
7:988348:C:A	F405L	0.982
7:988348:C:G	F405L	0.982
7:988362:T:C	F410S	0.979
7:988347:T:C	F405S	0.977
7:985209:T:A	N177K	0.975
7:985209:T:G	N177K	0.975
7:987447:G:C	E353D	0.975
7:987447:G:T	E353D	0.975
7:988328:T:A	W399R	0.975
7:988328:T:C	W399R	0.975
7:984436:T:C	F67L	0.971
7:984438:C:A	F67L	0.971
7:984438:C:G	F67L	0.971
7:987206:T:A	W307R	0.971
7:987206:T:C	W307R	0.971
7:988400:T:C	F423L	0.971
7:988402:C:A	F423L	0.971
7:988402:C:G	F423L	0.971
7:983340:C:A	N43K	0.969
7:983340:C:G	N43K	0.969

dbSNP variants (sampled 300 via entrez): RS1000364274 (7:986510 A>G), RS1000379585 (7:983726 T>A,G), RS1000530616 (7:989336 C>G), RS1000742327 (7:985846 T>C), RS1000862456 (7:987683 G>A), RS1001462697 (7:981625 A>G,T), RS1001700850 (7:984343 G>A), RS1001917012 (7:987721 G>A), RS1002204542 (7:988319 G>C), RS1002337463 (7:984662 C>A,T), RS1002371282 (7:987887 T>C), RS1002818161 (7:984947 C>T), RS1002969486 (7:988769 G>A,T), RS1003308508 (7:985736 G>A), RS1003536119 (7:982276 G>A)

Disease associations

OMIM: gene MIM:615967 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002104_3	Bronchopulmonary dysplasia	3.000000e-06
GCST007387_1	Insomnia symptoms (never/rarely vs. sometimes/usually)	5.000000e-10
GCST007388_39	Insomnia symptoms (never/rarely vs. usually)	3.000000e-08
GCST010241_196	Apolipoprotein A1 levels	6.000000e-26
GCST90002397_496	Mean spheric corpuscular volume	1.000000e-12
GCST90013407_68	Liver enzyme levels (gamma-glutamyl transferase)	5.000000e-24

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007876	insomnia measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004532	serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2406897 (SINGLE PROTEIN), CHEMBL4523986 (PROTEIN FAMILY)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 15,540 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL477772	PAZOPANIB	4	15,540

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — CYP2 family: physiological enzymes subset

ChEMBL bioactivities

16 potent at pChembl≥5 of 17 total, top 16 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.60	IC50	251.2	nM	CHEMBL601428
6.16	IC50	700	nM	CHEMBL3330409
6.05	IC50	900	nM	CHEMBL3330410
5.96	IC50	1100	nM	CHEMBL2130955
5.72	IC50	1900	nM	CHEMBL2130955
5.60	IC50	2500	nM	CHEMBL5612347
5.55	IC50	2800	nM	CHEMBL2130955
5.43	IC50	3700	nM	CHEMBL5406721
5.43	IC50	3700	nM	CHEMBL46909
5.42	IC50	3800	nM	CHEMBL5418617
5.41	IC50	3900	nM	CHEMBL5429178
5.31	IC50	4900	nM	CHEMBL2130955
5.23	IC50	5900	nM	CHEMBL5406218
5.22	IC50	6053	nM	CHEMBL65590
5.10	IC50	7900	nM	PAZOPANIB
5.00	IC50	1e+04	nM	CHEMBL5395150

PubChem BioAssay actives

18 with measured affinity, of 467 total; 15 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
8-imidazol-1-yl-5,6,7,8-tetrahydroquinoline	2022035: Inhibition of CYP450 (unknown origin)	ic50	0.0335	uM
N-(4-chlorophenyl)-5-ethyl-N-methyl-3-phenyl-1,2-oxazole-4-carboxamide	2108148: Inhibition of CYP450 (unknown origin)	ic50	0.2512	uM
2-(dimethylamino)-2-(2-ethylphenyl)-N-[3-(3-sulfamoylphenyl)-1H-indazol-5-yl]acetamide	2119433: Inhibition of CYP450 (unknown origin)	ic50	0.7000	uM
2-pyrrolidin-1-yl-N-[3-(3-sulfamoylphenyl)-1H-indazol-5-yl]-2-thiophen-3-ylacetamide	2119433: Inhibition of CYP450 (unknown origin)	ic50	0.9000	uM
2-[4-(trifluoromethyl)phenyl]chromen-4-one	1860369: Inhibition of CYP450 in human HCT-116 cells assessed as 20-HETE formation in presence of arachidonic acid incubated for 15 mins by multi-enzyme assay based LC-MS/MS analysis	ic50	1.1000	uM
4-N-[(1S)-1,2,3,4-tetrahydronaphthalen-1-yl]-4-N-[[(7R)-5,6,7,8-tetrahydro-1,6-naphthyridin-7-yl]methyl]cyclohexane-1,4-diamine	2124397: Inhibition of CYP450 (unknown origin)	ic50	2.5000	uM
1-[3-(2,4-dimethoxyphenyl)phenyl]-2,4-dimethoxybenzene	1973305: Inhibition of CYP450 in pooled human liver microsomes in presence of NADPH measured every 3 mins for 120 mins by fluorescence based analysis	ic50	3.7000	uM
1-[(E)-2-(2,4-dimethoxyphenyl)ethenyl]-3,5-dimethoxybenzene	1973305: Inhibition of CYP450 in pooled human liver microsomes in presence of NADPH measured every 3 mins for 120 mins by fluorescence based analysis	ic50	3.7000	uM
2,4-bis(3,5-dimethoxyphenyl)pyrimidine	1973305: Inhibition of CYP450 in pooled human liver microsomes in presence of NADPH measured every 3 mins for 120 mins by fluorescence based analysis	ic50	3.8000	uM
2,5-bis(3,5-dimethoxyphenyl)thiophene	1973305: Inhibition of CYP450 in pooled human liver microsomes in presence of NADPH measured every 3 mins for 120 mins by fluorescence based analysis	ic50	3.9000	uM
4-[2-(2,4-dimethoxyphenyl)-1,3-thiazol-4-yl]phenol	1973305: Inhibition of CYP450 in pooled human liver microsomes in presence of NADPH measured every 3 mins for 120 mins by fluorescence based analysis	ic50	5.9000	uM
1-pyridin-4-yl-1a,2,3,7b-tetrahydro-1H-cyclopropa[a]naphthalen-4-ol	2022025: Inhibition of CYP450 in human liver microsomes	ic50	6.0534	uM
(5R)-3-[1-(1H-indol-2-ylmethyl)piperidin-4-yl]-5-(6-methoxyquinolin-4-yl)-1,3-oxazolidin-2-one	306257: Inhibition of CYP450	ic50	7.9433	uM
3-[1-[(3,4-dimethylphenyl)methyl]piperidin-4-yl]-5-(6-methoxyquinolin-4-yl)-1,3-oxazolidin-2-one	306257: Inhibition of CYP450	ic50	10.0000	uM
1-[3-(3,5-dimethoxyphenyl)phenyl]-3,5-dimethoxybenzene	1973305: Inhibition of CYP450 in pooled human liver microsomes in presence of NADPH measured every 3 mins for 120 mins by fluorescence based analysis	ic50	10.0000	uM

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	3
beta-Naphthoflavone	decreases expression	2
aristolochic acid I	increases expression	1
bisphenol A	affects expression	1
deoxynivalenol	decreases expression	1
terbufos	increases methylation	1
beta-lapachone	decreases expression	1
perfluorooctanoic acid	decreases expression	1
2-(4-amino-3-methylphenyl)-5-fluorobenzothiazole	increases chemical synthesis, increases oxidation	1
2-(3,4-dimethoxyphenyl)-5-fluorobenzothiazole	increases oxidation	1
bisphenol S	decreases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Dimethyl Sulfoxide	increases expression	1
Fonofos	increases methylation	1
Hydrogen Peroxide	affects expression	1
Parathion	increases methylation	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Triclosan	increases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	decreases expression	1
Asbestos, Serpentine	decreases methylation	1
Copper Sulfate	decreases expression	1
Hydroxylamine	increases oxidation, increases chemical synthesis	1
Particulate Matter	increases abundance, increases expression	1

ChEMBL screening assays

184 unique, capped per target: 182 admet, 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2411839	ADMET	Prodrug conversion in sodium phosphate buffer at pH 7.4 assessed as CYP2W1 (unknown origin)-mediated formation of active spirocyclized CPI-MI preincubated for 3 mins at 25 to 50 uM by LC-MS analysis	Re-engineering of the duocarmycin structural architecture enables bioprecursor development targeting CYP1A1 and CYP2W1 for biological activity. — J Med Chem
CHEMBL4614611	Binding	Drug metabolism in human liver microsomes assessed as Cytochrome P450-mediated formation of 12-OHNVP by measuring Kcat/Km ratio in presence of NADPH regenerating reagents by uHPLC-MS/MS analysis	Twelfth-Position Deuteration of Nevirapine Reduces 12-Hydroxy-Nevirapine Formation and Nevirapine-Induced Hepatocyte Death. — J Med Chem

Clinical trials (associated diseases)

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