◎ Sugi Atlas

Atlas / Disease / Pulmonary disease, chronic obstructive, susceptibility to

Pulmonary disease, chronic obstructive, susceptibility to

disease
On this page

Summary

Pulmonary disease, chronic obstructive, susceptibility to (MONDO:0100167) is a disease with 17 cohort genes. The dominant Reactome pathway is Xenobiotics (4 cohort genes).

At a glance

  • Cohort genes: 17
  • ClinVar variants: 32

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namepulmonary disease, chronic obstructive, susceptibility to
Mondo IDMONDO:0100167
UMLSC3838076
MedGen854229
Is cancer (heuristic)no

Data availability: 32 ClinVar variants.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › pulmonary disease, chronic obstructive, susceptibility to

Related subtypes (283): microvascular complications of diabetes, susceptibility, Mycobacterium tuberculosis, susceptibility, bacteremia, susceptibility, pregnancy loss, recurrent, susceptibility, autoimmune thyroid disease, susceptibility to, susceptibility to HIV infection, appendicitis, proneness to, atherosclerosis susceptibility, multiple sclerosis, susceptibility to, dyslexia, susceptibility to, 1, endometriosis, susceptibility to, 1, osteoarthritis susceptibility 2, essential hypertension, genetic, osteoarthritis susceptibility 1, otitis media, susceptibility to, pelvic organ prolapse, susceptibility to, pulmonary edema of mountaineers, susceptibility to, sarcoidosis, susceptibility to, 1, strabismus, susceptibility to, thyrotoxic periodic paralysis, susceptibility to, 1, predisposition to invasive fungal disease due to CARD9 deficiency, celiac disease, susceptibility to, 1, hemolytic uremic syndrome, atypical, susceptibility to, 1, hypervitaminosis a, susceptibility to, kuru, susceptibility to, leprosy, susceptibility to, 3, nonarteritic anterior ischemic optic neuropathy, susceptibility to, diabetes mellitus, insulin-dependent, X-linked, susceptibility to, coronary heart disease, susceptibility to, 3, dyslexia, susceptibility to, 9, systemic lupus erythematosus, susceptibility to, 15, Leber optic atrophy, susceptibility to, dyslexia, susceptibility to, 2, Helicobacter pylori infection, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 1, inherited susceptibility to asthma, renal dysplasia, cystic, susceptibility to, systemic lupus erythematosus, susceptibility to, 1, leishmaniasis, tegumentary, susceptibility to, xanthomatosis, susceptibility to, hyperlipidemia, combined, 1, urinary tract infections, recurrent, susceptibility to, hypertension, essential, susceptibility to, 1, hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection, dyslexia, susceptibility to, 3, Ascaris lumbricoides infection, susceptibility to, hypertension, essential, susceptibility to, 2, epilepsy, idiopathic generalized, susceptibility to, 7, systemic lupus erythematosus, susceptibility to, 2, systemic lupus erythematosus, susceptibility to, 3, nephrolithiasis, uric acid, susceptibility to, atrioventricular septal defect, susceptibility to, 2, vitiligo-associated multiple autoimmune disease susceptibility 1, polysubstance abuse, susceptibility to, dyslexia, susceptibility to, 6, glaucoma, normal tension, susceptibility to, anorexia nervosa, susceptibility to, 1, stroke, susceptibility to, 1, dyslexia, susceptibility to, 5, epilepsy, idiopathic generalized, susceptibility to, 2, familial meningioma, celiac disease, susceptibility to, 5, systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1, hypertension, essential, susceptibility to, 3, coronary heart disease, susceptibility to, 1, bulimia nervosa, susceptibility to, 1, leprosy, susceptibility to, 2, epilepsy, idiopathic generalized, susceptibility to, 9, Parkinson disease 11, autosomal dominant, susceptibility to, focal segmental glomerulosclerosis 3, susceptibility to, autoimmune disease, susceptibility to, 1, osteoarthritis susceptibility 3, systemic lupus erythematosus with nephritis, susceptibility to, 1, systemic lupus erythematosus with nephritis, susceptibility to, 2, systemic lupus erythematosus with nephritis, susceptibility to, 3, coronary heart disease, susceptibility to, 2, coronary heart disease, susceptibility to, 4, autoimmune disease, susceptibility to, 2, autoimmune disease, susceptibility to, 3, systemic lupus erythematosus, susceptibility to, 4, myocardial infarction, susceptibility to, major depressive disorder 1, legionnaire disease, susceptibility to, myocardial infarction, susceptibility to, 2, major depressive disorder 2, hypertension, essential, susceptibility to, 4, epilepsy, idiopathic generalized, susceptibility to, 3, myoclonic epilepsy, juvenile, susceptibility to, 3, orofacial cleft 6, susceptibility to, coronary heart disease, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 1, attention deficit-hyperactivity disorder, susceptibility to, 2, attention deficit-hyperactivity disorder, susceptibility to, 3, attention deficit-hyperactivity disorder, susceptibility to, 4, Alzheimer disease 9, susceptibility to respiratory infections associated with CD8alpha chain mutation, dyslexia, susceptibility to, 8, autoimmune disease, susceptibility to, 4, hepatitis C virus, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 4, celiac disease, susceptibility to, 4, celiac disease, susceptibility to, 2, celiac disease, susceptibility to, 3, leprosy, susceptibility to, 1, systemic lupus erythematosus, susceptibility to, 5, systemic lupus erythematosus, susceptibility to, 6, opioid dependence, susceptibility to, 1, systemic lupus erythematosus, susceptibility to, 7, systemic lupus erythematosus, susceptibility to, 8, hypertension, essential, susceptibility to, 5, hypertension, essential, susceptibility to, 6, Parkinson disease 13, autosomal dominant, susceptibility to, West Nile virus, susceptibility to, hepatitis B virus, susceptibility to, Buruli ulcer, susceptibility to, osteoarthritis susceptibility 4, systemic lupus erythematosus, susceptibility to, 9, coronary heart disease, susceptibility to, 7, hypertension, essential, susceptibility to, 7, leprosy, susceptibility to, 4, hypertension, essential, susceptibility to, 8, epilepsy, idiopathic generalized, susceptibility to, 13, coronary heart disease, susceptibility to, 8, myoclonic epilepsy, juvenile, susceptibility to, 4, susceptibility to visceral leishmaniasis, 2, susceptibility to visceral leishmaniasis, 3, celiac disease, susceptibility to, 6, epilepsy, idiopathic generalized, susceptibility to, 5, epilepsy, childhood absence, susceptibility to, 6, celiac disease, susceptibility to, 7, celiac disease, susceptibility to, 8, celiac disease, susceptibility to, 9, celiac disease, susceptibility to, 10, celiac disease, susceptibility to, 11, celiac disease, susceptibility to, 12, celiac disease, susceptibility to, 13, coronary heart disease, susceptibility to, 9, systemic lupus erythematosus, susceptibility to, 10, systemic lupus erythematosus, susceptibility to, 11, systemic lupus erythematosus, susceptibility to, 12, epilepsy, childhood absence, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 6, systemic lupus erythematosus, susceptibility to, 13, sarcoidosis, susceptibility to, 2, sarcoidosis, susceptibility to, 3, osteoarthritis susceptibility 5, osteoarthritis susceptibility 6, focal segmental glomerulosclerosis 4, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 8, herpes simplex encephalitis, susceptibility to, 2, attention deficit-hyperactivity disorder, susceptibility to, 7, epilepsy, idiopathic generalized, susceptibility to, 10, pelvic organ prolapse, susceptibility to, 2, systemic lupus erythematosus, susceptibility to, 14, leprosy, susceptibility to, 5, thyrotoxic periodic paralysis, susceptibility to, 2, hearing loss, cisplatin-induced, susceptibility to, susceptibility to mononeuropathy of the median nerve, mild, fatty liver disease, nonalcoholic, susceptibility to, 2, leprosy, susceptibility to, 6, autoimmune disease, susceptibility to, 6, Parkinson disease 5, autosomal dominant, susceptibility to, aspergillosis, susceptibility to, sick sinus syndrome 3, susceptibility to, Parkinson disease 18, autosomal dominant, susceptibility to, epilepsy, juvenile myoclonic, susceptibility to, 9, dengue virus, susceptibility to, coronary heart disease, susceptibility to, 6, podoconiosis, susceptibility to, peripartum cardiomyopathy, susceptibility to, influenza, severe, susceptibility to, thyrotoxic periodic paralysis, susceptibility to, 3, human herpesvirus 8, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 12, herpes simplex encephalitis, susceptibility to, 3, herpes simplex encephalitis, susceptibility to, 4, pulmonary hypertension, neonatal, susceptibility to, craniosynostosis 5, susceptibility to, melioidosis, susceptibility to, chronic mountain sickness, susceptibility to, herpes simplex encephalitis, susceptibility to, 7, epilepsy, idiopathic generalized, susceptibility to, 14, hereditary neoplastic syndrome, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency, susceptibility to localized juvenile periodontitis, inherited susceptibility to mycobacterial diseases, neural tube defects, susceptibility to, multiple system atrophy 1, susceptibility to, nephrolithiasis susceptibility caused by SLC26A1, myoclonic epilepsy, juvenile, susceptibility to, 1, epilepsy, childhood absence, susceptibility to, 1, autism, susceptiblity to, susceptibility to visceral leishmaniasis, 1, malaria, susceptibility to, spondyloarthropathy, susceptibility to, herpes simplex encephalitis, susceptibility to, 1, epilepsy, idiopathic generalized, susceptibility to, 18, epilepsy, idiopathic generalized, susceptibility to, 15, hepatitis, fulminant viral, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 16, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency, aortic aneurysm, familial thoracic 11, susceptibility to, craniosynostosis 7, amyotrophic lateral sclerosis, susceptibility to, 24, amyotrophic lateral sclerosis, susceptibility to, 25, epilepsy, juvenile myoclonic, susceptibility to, 10, susceptibility to angioedema induced by ACE inhibitors, epidermodysplasia verruciformis, susceptibility to, exfoliation syndrome, susceptibility to, basal cell carcinoma, susceptibility to, graft-versus-host disease, susceptibility to, narcolepsy, susceptibility to, restless legs syndrome, susceptibility to, psoriasis, susceptibility to, age related macular degeneration, susceptibility to, allergic rhinitis, susceptibility to, dermatitis, atopic, susceptibility to, Hirschsprung disease, susceptibility to, diabetes mellitus, ketosis-prone, schizophrenia, susceptibility to, radioulnar synostosis, nonsyndromic, susceptibility to, lumbar disk herniation, susceptibility to, lumbar disk degeneration, susceptibility to, psoriatic arthritis, susceptibility to, migraine with or without aura, susceptibility to, Alzheimer disease, susceptibility to, mitochondrial, Asperger syndrome, susceptibility to, tobacco addiction, susceptibility to, lipodystrophy, partial, acquired, susceptibility to, Graves disease, susceptibility to, 1, epilepsy, idiopathic generalized, susceptibility to, 17, breast-ovarian cancer, familial, susceptibility to, blepharospasm, benign essential, susceptibility to, hemorrhage, intracerebral, susceptibility to, IgA nephropathy, susceptibility to, hemolytic uremic syndrome, atypical, susceptibility to, 7, vitiligo-associated multiple autoimmune disease susceptibility 6, delayed sleep phase syndrome, susceptibility to, encephalitis, acute, infection-induced, susceptibility to, malignant hyperthermia, susceptibility to, multicentric Castleman disease, susceptibility to, pelvic organ prolapse, susceptibility to, 1, amyotrophic lateral sclerosis, susceptibility to, 13, Graves disease, susceptibility to, X-linked 2, autoimmune thyroid disease, susceptibility to, 5, atrioventricular septal defect, susceptibility to, 1, epilepsy, juvenile myoclonic, susceptibility to, 6, autoimmune disease, susceptibility to, 5, epilepsy, idiopathic generalized, susceptibility to, 6, seasonal affective disorder, susceptibility to, ventricular fibrillation during myocardial infarction, susceptibility to, UV-induced skin damage, susceptibility to, antisocial behavior, susceptibility to, aplastic anemia, susceptibility to, cardiomyopathy, familial hypertrophic, 4, susceptibility to, cirrhosis, noncryptogenic, susceptibility to, coronary artery disease, severe, susceptibility to, dengue fever, susceptibility to, dengue hemorrhagic fever, susceptibility to, dengue shock syndrome, susceptibility to, dyslexia, susceptibility to, 4, dyslexia, susceptibility to, 7, efavirenz central nervous system toxicity, susceptibility to, obesity, susceptibility to, bleeding disorder, platelet-type, 13, susceptibility to, Schistosoma mansoni infection, susceptibility/resistance to, Parkinson disease 24, autosomal dominant, susceptibility to, iron overload, susceptibility to, hydrocephalus, congenital, 5, susceptibility to, hearing loss, noise-induced, susceptibility to, hyperemesis gravidarum, susceptibility to, Parkinson disease 26, autosomal dominant, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 19, polycystic kidney disease 9, susceptibility to, rhabdomyolysis, susceptibility to, scoliosis, isolated, susceptibility to, dystonia 38, susceptibility to, gallbladder disease 4, epilepsy, juvenile absence, susceptibility to, GBA1-related Parkinson disease, susceptibility, SH2B3-related immune system disorder

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

32 retrieved; paginated sample, class counts are floors:

22 association, 5 protective, 2 benign, 2 benign; association, 1 risk factor

ClinVarVariant (HGVS)GeneClassificationReview
15897NG_023030.1:g.4769GT[30_?]HMOX1risk factorno assertion criteria provided
1693593NM_014862.4(ARNT2):c.32-9124C>TARNT2associationno assertion criteria provided
1693594NM_014862.4(ARNT2):c.31+6098A>GARNT2associationno assertion criteria provided
1693590NM_020183.6(BMAL2):c.31+13565T>CBMAL2associationno assertion criteria provided
1693591NM_020183.6(BMAL2):c.285-60A>CBMAL2associationno assertion criteria provided
1693605NM_020183.6(BMAL2):c.31+11413G>ABMAL2protectiveno assertion criteria provided
1693607NM_000781.3(CYP11A1):c.269+1460C>TCYP11A1associationno assertion criteria provided
1693606NM_000103.4(CYP19A1):c.452-1333G>TCYP19A1associationno assertion criteria provided
1693596NM_000770.3(CYP2C8):c.1292-404G>ACYP2C8associationno assertion criteria provided
1693597NM_000770.3(CYP2C8):c.482-166A>GCYP2C8associationno assertion criteria provided
1693598NM_000771.4(CYP2C9):c.1150-1847G>ACYP2C9associationno assertion criteria provided
1693614NM_000771.4(CYP2C9):c.961+729T>GCYP2C9associationno assertion criteria provided
1693587NM_000775.4(CYP2J2):c.148C>T (p.Leu50=)CYP2J2associationno assertion criteria provided
1693599NM_024514.5(CYP2R1):c.225+1110A>GCYP2R1associationno assertion criteria provided
1693592NM_006668.2(CYP46A1):c.357-124G>ACYP46A1protectiveno assertion criteria provided
1693611NM_001010969.4(CYP4A22):c.691T>C (p.Cys231Arg)CYP4A22associationno assertion criteria provided
1693612NM_178134.3(CYP4Z1):c.1068-409G>ACYP4A22-AS1associationno assertion criteria provided
1693613NM_001099772.2(CYP4B1):c.*437T>CCYP4B1associationno assertion criteria provided
1693602NM_004528.4(MGST3):c.192-423G>ALOC126805899associationno assertion criteria provided
1693600NM_020300.5(MGST1):c.-22-1869G>AMGST1associationno assertion criteria provided
1693601NM_020300.5(MGST1):c.*57T>GMGST1protectiveno assertion criteria provided
1693603NM_001267598.2(MGST1):c.221+8635G>TMGST1protectiveno assertion criteria provided
1693604NM_020300.5(MGST1):c.221+2528G>CMGST1associationno assertion criteria provided
1693588NM_004528.4(MGST3):c.*58G>TMGST3associationno assertion criteria provided
1693589NM_004528.4(MGST3):c.*282G>TMGST3protectiveno assertion criteria provided
1693608NM_004528.4(MGST3):c.-6C>TMGST3associationno assertion criteria provided
1693609NM_004528.4(MGST3):c.-8+936G>AMGST3associationno assertion criteria provided
1693610NM_004528.4(MGST3):c.-7-2921C>TMGST3associationno assertion criteria provided
17746NM_000684.3(ADRB1):c.1165G>C (p.Gly389Arg)ADRB1Benign; associationno assertion criteria provided
375654NM_000770.3(CYP2C8):c.1196A>G (p.Lys399Arg)CYP2C8Benign; associationno assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 8 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
ARNT2Orphanet:3157Septo-optic dysplasia spectrum
CYP2R1Orphanet:289157Hypocalcemic vitamin D-dependent rickets
CYP11A1Orphanet:16855846,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
CYP11A1Orphanet:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
CYP19A1Orphanet:178345Aromatase excess syndrome
CYP19A1Orphanet:91Aromatase deficiency
HMOX1Orphanet:562509Heme oxygenase-1 deficiency
HMOX1Orphanet:586Cystic fibrosis

Cohort genes → proteins

17 cohort genes, 16 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence17

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
ARNT2HGNC:16876ENSG00000172379Q9HBZ2Aryl hydrocarbon receptor nuclear translocator 2clinvar
BMAL2HGNC:18984ENSG00000029153Q8WYA1Basic helix-loop-helix ARNT-like protein 2clinvar
CYP4A22HGNC:20575ENSG00000162365Q5TCH4Cytochrome P450 4A22clinvar
CYP2R1HGNC:20580ENSG00000186104Q6VVX0Vitamin D 25-hydroxylaseclinvar
CYP11A1HGNC:2590ENSG00000140459P05108Cholesterol side-chain cleavage enzyme, mitochondrialclinvar
CYP19A1HGNC:2594ENSG00000137869P11511Aromataseclinvar
CYP2C8HGNC:2622ENSG00000138115P10632Cytochrome P450 2C8clinvar
CYP2C9HGNC:2623ENSG00000138109P11712Cytochrome P450 2C9clinvar
CYP2J2HGNC:2634ENSG00000134716P51589Cytochrome P450 2J2clinvar
CYP46A1HGNC:2641ENSG00000036530Q9Y6A2Cholesterol 24-hydroxylaseclinvar
CYP4B1HGNC:2644ENSG00000142973P13584Cytochrome P450 4B1clinvar
ADRB1HGNC:285ENSG00000043591P08588Beta-1 adrenergic receptorclinvar
CYP4A22-AS1HGNC:43715ENSG00000225506CYP4A22 antisense RNA 1clinvar
GSTP1HGNC:4638ENSG00000084207P09211Glutathione S-transferase Pclinvar
HMOX1HGNC:5013ENSG00000100292P09601Heme oxygenase 1clinvar
MGST1HGNC:7061ENSG00000008394P10620Microsomal glutathione S-transferase 1clinvar
MGST3HGNC:7064ENSG00000143198O14880Glutathione S-transferase 3, mitochondrialclinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
ARNT2Aryl hydrocarbon receptor nuclear translocator 2Transcription factor that plays a role in the development of the hypothalamo-pituitary axis, postnatal brain growth, and visual and renal function.
BMAL2Basic helix-loop-helix ARNT-like protein 2Transcriptional activator which forms a core component of the circadian clock.
CYP4A22Cytochrome P450 4A22Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate and palmitate.
CYP2R1Vitamin D 25-hydroxylaseA cytochrome P450 monooxygenase involved in activation of vitamin D precursors.
CYP11A1Cholesterol side-chain cleavage enzyme, mitochondrialA cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones.
CYP19A1AromataseA cytochrome P450 monooxygenase that catalyzes the conversion of C19 androgens, androst-4-ene-3,17-dione (androstenedione) and testosterone to the C18 estrogens, estrone and estradiol, respectively.
CYP2C8Cytochrome P450 2C8A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins.
CYP2C9Cytochrome P450 2C9A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and steroids.
CYP2J2Cytochrome P450 2J2A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) in the cardiovascular system.
CYP46A1Cholesterol 24-hydroxylaseP450 monooxygenase that plays a major role in cholesterol homeostasis in the brain.
CYP4B1Cytochrome P450 4B1Cytochromes P450 are a group of heme-thiolate monooxygenases.
ADRB1Beta-1 adrenergic receptorG protein-coupled receptor for catecholamines that couples to G(s) proteins to activate adenylate cyclase and cAMP-dependent pathway.
GSTP1Glutathione S-transferase PCatalyzes conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.
HMOX1Heme oxygenase 1Catalyzes the oxidative cleavage of heme at the alpha-methene bridge carbon, released as carbon monoxide (CO), to generate biliverdin IXalpha, while releasing the central heme iron chelate as ferrous iron.
MGST1Microsomal glutathione S-transferase 1Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.
MGST3Glutathione S-transferase 3, mitochondrialDisplays both glutathione S-transferase and glutathione peroxidase activities toward oxyeicosanoids, as part of cellular detoxification as well as synthesis of bioactive metabolites.

Protein-family classification

Druggable: 10 · Difficult: 2 · Unknown: 5 · Druggable fraction: 0.59

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Enzyme (other)96.3×1e-05
GPCR11.4×0.837
Transcription factor21.0×0.837
Other/Unknown50.5×0.993

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
ARNT2Transcription factornoPAS, Nuc_translocat, PAC
BMAL2Transcription factornoPAS, Nuc_translocat, bHLH_dom
CYP4A22Other/UnknownnoCyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
CYP2R1Enzyme (other)yes1.14.14.24Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
CYP11A1Enzyme (other)yes1.14.15.6Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
CYP19A1Enzyme (other)yes1.14.14.14Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
CYP2C8Enzyme (other)yes1.14.14.1Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
CYP2C9Enzyme (other)yes1.14.99.38Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
CYP2J2Enzyme (other)yes1.14.14.24Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_E_grp-I_CYP2J-like
CYP46A1Enzyme (other)yes1.14.14.25Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
CYP4B1Other/UnknownnoCyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
ADRB1GPCRyesGPCR_Rhodpsn, ADRB1_rcpt, ADR_fam
CYP4A22-AS1Other/Unknownno
GSTP1Enzyme (other)yes2.5.1.18GST_pi, Glutathione_S-Trfase_N, GST_C
HMOX1Enzyme (other)yes1.14.14.18Haem_Oase, Haem_Oase-like, Haem_Oase-like_multi-hlx
MGST1Other/UnknownnoMembr-assoc_MAPEG, MAPEG-like_dom_sf, MGST1-like
MGST3Other/UnknownnoMembr-assoc_MAPEG, MAPEG-like_dom_sf, MAPEG

Expression context

Cohort genes with no expression data: 0.

17 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)17
unknown0

Top tissues across cohort

TissueCohort genes
liver3
right lobe of liver3
jejunal mucosa3
middle temporal gyrus2
lower esophagus mucosa2
quadriceps femoris2
left testis2
sperm2
right adrenal gland2
right adrenal gland cortex2
bronchial epithelial cell2
frontal pole1
lateral globus pallidus1
amniotic fluid1
esophagus squamous epithelium1
male germ cell1
adrenal tissue1
placenta1
right testis1
apex of heart1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
ARNT2246ubiquitousmarkerlateral globus pallidus, middle temporal gyrus, frontal pole
BMAL2200ubiquitousmarkerlower esophagus mucosa, esophagus squamous epithelium, amniotic fluid
CYP4A2277tissue_specificmarkerright lobe of liver, liver, quadriceps femoris
CYP2R1252ubiquitousmarkersperm, male germ cell, left testis
CYP11A1136broadmarkeradrenal tissue, right adrenal gland, right adrenal gland cortex
CYP19A1159tissue_specificmarkerplacenta, right testis, left testis
CYP2C8185tissue_specificmarkerright lobe of liver, liver, sperm
CYP2C9157tissue_specificmarkerright lobe of liver, jejunal mucosa, liver
CYP2J2243broadmarkerjejunal mucosa, apex of heart, heart left ventricle
CYP46A1198broadmarkermiddle temporal gyrus, putamen, Brodmann (1909) area 46
CYP4B1239tissue_specificmarkerbronchial epithelial cell, epithelium of bronchus, bronchus
ADRB1205broadmarkerheart right ventricle, parotid gland, bronchial epithelial cell
CYP4A22-AS1132tissue_specificmarkermale germ line stem cell (sensu Vertebrata) in testis, quadriceps femoris, thymus
GSTP1293ubiquitousmarkerlower esophagus mucosa, right uterine tube, olfactory segment of nasal mucosa
HMOX1230ubiquitousmarkercartilage tissue, spleen, monocyte
MGST1258ubiquitousmarkerright adrenal gland, right adrenal gland cortex, left adrenal gland
MGST3293ubiquitousmarkercorpus epididymis, jejunal mucosa, skeletal muscle tissue of rectus abdominis

Protein interactions among cohort

Intra-cohort edges: 3.

Hub genes (top 10 by interactor count)

SymbolInteractor count
HMOX14,054
CYP19A13,732
GSTP13,521
CYP2C92,250
MGST32,162
CYP11A12,123
CYP46A11,944
CYP2C81,730
ADRB11,702
CYP4B11,617

Intra-cohort edges

ABSources
GSTP1MGST1string_interaction
GSTP1MGST3string_interaction
MGST1MGST3string_interaction

Structural data

PDB: 10 · AlphaFold-only: 6 · No structure: 1

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
GSTP1P0921168
HMOX1P0960126
CYP46A1Q9Y6A221
CYP2C9P1171215
CYP19A1P1151111
ADRB1P085887
CYP2C8P106325
CYP11A1P051084
CYP2R1Q6VVX03
BMAL2Q8WYA11

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
CYP4B1P1358494.34
CYP2J2P5158993.90
MGST3O1488092.78
CYP4A22Q5TCH489.57
MGST1P1062078.65
ARNT2Q9HBZ259.49

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 60. Enrichment computed across 17 evidence-associated genes (16 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 16 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Xenobiotics4124.1×1e-06ARNT2, CYP2C8, CYP2C9, CYP2J2
Endogenous sterols498.5×2e-06ARNT2, CYP11A1, CYP19A1, CYP46A1
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)3267.7×3e-06CYP2C8, CYP2C9, CYP2J2
Fatty acids3133.8×2e-05CYP4A22, CYP2J2, CYP4B1
Glutathione conjugation393.1×5e-05GSTP1, MGST1, MGST3
Biosynthesis of maresin-like SPMs2237.9×3e-04CYP2C8, CYP2C9
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)2158.6×6e-04CYP2C8, CYP2C9
Miscellaneous substrates2119.0×7e-04CYP4A22, CYP4B1
Eicosanoids2119.0×7e-04CYP4A22, CYP4B1
CYP2E1 reactions2119.0×7e-04CYP2C8, CYP2C9
Biological oxidations324.3×0.001ARNT2, MGST1, MGST3
Aflatoxin activation and detoxification279.3×0.001MGST1, MGST3
Synthesis of Leukotrienes (LT) and Eoxins (EX)271.4×0.002CYP4A22, CYP4B1
Aspirin ADME239.6×0.005CYP2C8, CYP2C9
Defective CYP27B1 causes VDDR1B1713.8×0.005CYP2R1
Defective CYP19A1 causes AEXS1713.8×0.005CYP19A1
Phase II - Conjugation of compounds234.8×0.005MGST1, MGST3
Defective CYP11A1 causes AICSR1142.8×0.022CYP11A1
Regulation of HMOX1 expression and activity1142.8×0.022HMOX1
Estrogen biosynthesis1119.0×0.023CYP19A1
Vitamins1119.0×0.023CYP2R1
Aryl hydrocarbon receptor signalling1119.0×0.023ARNT2
Adrenoceptors179.3×0.033ADRB1
Synthesis of bile acids and bile salts via 24-hydroxycholesterol154.9×0.043CYP46A1
Vitamin D (calciferol) metabolism154.9×0.043CYP2R1
Heme degradation151.0×0.043HMOX1
Pregnenolone biosynthesis151.0×0.043CYP11A1
Cytochrome P450 - arranged by substrate type144.6×0.048ARNT2
The NLRP3 inflammasome142.0×0.049HMOX1
Transcriptional Regulation by NPAS4135.7×0.055ARNT2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 16 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
xenobiotic metabolic process655.9×1e-07CYP2R1, CYP2C8, CYP2C9, CYP2J2, CYP46A1, GSTP1
obsolete organic acid metabolic process3451.4×2e-06CYP2R1, CYP2C8, CYP2J2
icosanoid biosynthetic process3316.0×5e-06CYP4A22, CYP2C8, CYP2C9
epoxygenase P450 pathway3166.3×3e-05CYP2C8, CYP2C9, CYP2J2
sterol metabolic process3158.0×3e-05CYP11A1, CYP19A1, CYP46A1
linoleic acid metabolic process3131.7×4e-05CYP4A22, CYP2J2, GSTP1
lipid hydroxylation2300.9×4e-04CYP4A22, CYP2C8
oxidative demethylation2263.3×5e-04CYP2C8, CYP2C9
vitamin D metabolic process2191.5×8e-04CYP2R1, CYP11A1
omega-hydroxylase P450 pathway2191.5×8e-04CYP2C8, CYP2C9
response to estradiol337.2×1e-03ARNT2, CYP19A1, GSTP1
negative regulation of ferroptosis2100.3×0.002GSTP1, HMOX1
estrogen metabolic process278.0×0.004CYP2C8, CYP2C9
xenobiotic catabolic process270.2×0.004CYP2C8, CYP2C9
arachidonate metabolic process260.2×0.005CYP4A22, MGST3
long-chain fatty acid biosynthetic process255.4×0.006CYP2C8, CYP2C9
prostanoid metabolic process11053.2×0.007MGST3
response to cesium ion11053.2×0.007CYP2R1
urea metabolic process11053.2×0.007CYP2C9
nitric oxide storage11053.2×0.007GSTP1
cellular response to lipid hydroperoxide11053.2×0.007MGST1
steroid hormone biosynthetic process11053.2×0.007CYP11A1
steroid metabolic process242.1×0.007CYP2C8, CYP2C9
positive regulation of heart rate by epinephrine-norepinephrine1526.6×0.010ADRB1
positive regulation of the force of heart contraction by epinephrine-norepinephrine1526.6×0.010ADRB1
wound healing involved in inflammatory response1526.6×0.010HMOX1
heme oxidation1526.6×0.010HMOX1
smooth muscle hyperplasia1526.6×0.010HMOX1
biphenyl metabolic process1526.6×0.010CYP4B1
negative regulation of leukocyte proliferation1526.6×0.010GSTP1

Therapeutics

Drug target analysis

Approved (phase 4): 11 · Phase ≥3: 11 · Phased (≥1): 11 · Undrugged: 6

Druggability breadth: 14 of 17 evidence-associated genes (82%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
CYP4A22PAZOPANIB
CYP2R1PAZOPANIB
CYP11A1AMINOGLUTETHIMIDE
CYP19A1CLOTRIMAZOLE
CYP2C8CLOTRIMAZOLE
CYP2C9BEPRIDIL
CYP2J2BEPRIDIL
CYP46A1EFAVIRENZ
CYP4B1PAZOPANIB
ADRB1LABETALOL HYDROCHLORIDE
GSTP1ETHACRYNIC ACID

Top cohort targets by molecule count

SymbolMoleculesMax phase
CYP2C93574
ADRB11544
CYP2C8624
CYP19A1404
CYP2J2254
CYP46A144
GSTP124
CYP4A2214
CYP2R114
CYP11A114

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
PAZOPANIB4CYP2C8, CYP2C9, CYP2J2, CYP2R1, CYP4A22, CYP4B1
AMINOGLUTETHIMIDE4CYP11A1, CYP19A1
CLOTRIMAZOLE4ADRB1, CYP19A1, CYP2C8, CYP2C9
FLUCONAZOLE4CYP19A1, CYP2C9
EXEMESTANE4CYP19A1
POSACONAZOLE4CYP19A1, CYP2C9
ANASTROZOLE4CYP19A1
ESTRONE4CYP19A1
LETROZOLE4CYP19A1
TESTOLACTONE4CYP19A1
KETOCONAZOLE4CYP19A1, CYP2C8, CYP2C9
FLUOROURACIL4CYP19A1
OSILODROSTAT4CYP19A1
TESTOSTERONE4CYP19A1
NIMESULIDE4CYP19A1, CYP2C9
MICONAZOLE4ADRB1, CYP19A1, CYP2C9, CYP2J2
SIMVASTATIN4CYP2C8
PHENELZINE4CYP2C8, CYP2C9
MONTELUKAST SODIUM4CYP2C8, CYP2C9
MIFEPRISTONE4CYP2C8, CYP2C9
DANAZOL4CYP2C8, CYP2C9, CYP2J2
NICARDIPINE4CYP2C8, CYP2C9, CYP2J2
ISRADIPINE4CYP2C8, CYP2C9
IBRUTINIB4CYP2C8, CYP2C9
LUMACAFTOR4CYP2C8, CYP2C9
ANIDULAFUNGIN4CYP2C8
RESMETIROM4CYP2C8, CYP2C9
ZANUBRUTINIB4CYP2C8, CYP2C9
VOXELOTOR4CYP2C8, CYP2C9
NORTRIPTYLINE4ADRB1, CYP2C8

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 9.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
CYP2C93,498ADMET:3425, Binding:71, Functional:1, Toxicity:1
CYP2C81,025ADMET:1005, Binding:19, Toxicity:1
ADRB1809Binding:509, Functional:290, ADMET:10
CYP19A1728Binding:698, ADMET:17, Functional:13
CYP2J2260ADMET:255, Binding:5
CYP4A22183ADMET:181, Binding:2
CYP2R1183ADMET:181, Binding:2
CYP4B1183ADMET:181, Binding:2
GSTP1126Binding:107, ADMET:19
CYP46A127Binding:24, ADMET:3
HMOX123Binding:22, ADMET:1
MGST310Binding:9, ADMET:1
MGST13ADMET:2, Binding:1
CYP11A11Functional:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
CYP2R11.14.14.24vitamin D 25-hydroxylase
CYP11A11.14.15.6cholesterol monooxygenase (side-chain-cleaving)
CYP19A11.14.14.14aromatase
CYP2C81.14.14.1unspecific monooxygenase
CYP2C91.14.99.38cholesterol 25-monooxygenase
CYP2J21.14.14.24, 1.14.14.73, 1.14.14.74, 1.14.14.75vitamin D 25-hydroxylase, albendazole monooxygenase (sulfoxide-forming), albendazole monooxygenase (hydroxylating), fenbendazole monooxygenase (4’-hydroxylating)
CYP46A11.14.14.25cholesterol 24-hydroxylase
GSTP12.5.1.18glutathione transferase
HMOX11.14.14.18heme oxygenase (biliverdin-producing)

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
CYP4A22183
CYP2R1183
CYP19A1728
CYP2C81,025
CYP2C93,498
CYP2J2260
CYP4B1183
ADRB1809
GSTP1126

Pharmacogenomics

Cohort genes with a PharmGKB record: 16; with CPIC/DPWG dosing guidelines: 3.

Cohort genes with a CPIC/DPWG dosing guideline

SymbolCPIC guidelines
CYP2C81
CYP2C91
ADRB11

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
PAZOPANIB4CYP2C8, CYP2C9, CYP2J2, CYP2R1, CYP4A22, CYP4B1
AMINOGLUTETHIMIDE4CYP11A1, CYP19A1
CLOTRIMAZOLE4ADRB1, CYP19A1, CYP2C8, CYP2C9
FLUCONAZOLE4CYP19A1, CYP2C9
EXEMESTANE4CYP19A1
POSACONAZOLE4CYP19A1, CYP2C9
ANASTROZOLE4CYP19A1
ESTRONE4CYP19A1
LETROZOLE4CYP19A1
TESTOLACTONE4CYP19A1
KETOCONAZOLE4CYP19A1, CYP2C8, CYP2C9
FLUOROURACIL4CYP19A1
OSILODROSTAT4CYP19A1
TESTOSTERONE4CYP19A1
NIMESULIDE4CYP19A1, CYP2C9
MICONAZOLE4ADRB1, CYP19A1, CYP2C9, CYP2J2
SIMVASTATIN4CYP2C8
PHENELZINE4CYP2C8, CYP2C9
MONTELUKAST SODIUM4CYP2C8, CYP2C9
MIFEPRISTONE4CYP2C8, CYP2C9
DANAZOL4CYP2C8, CYP2C9, CYP2J2
NICARDIPINE4CYP2C8, CYP2C9, CYP2J2
ISRADIPINE4CYP2C8, CYP2C9
IBRUTINIB4CYP2C8, CYP2C9
LUMACAFTOR4CYP2C8, CYP2C9
ANIDULAFUNGIN4CYP2C8
RESMETIROM4CYP2C8, CYP2C9
ZANUBRUTINIB4CYP2C8, CYP2C9
VOXELOTOR4CYP2C8, CYP2C9
NORTRIPTYLINE4ADRB1, CYP2C8

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)11CYP4A22, CYP2R1, CYP11A1, CYP19A1, CYP2C8, CYP2C9, CYP2J2, CYP46A1, CYP4B1, ADRB1 (+1 more)
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug1HMOX1
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug5ARNT2, BMAL2, CYP4A22-AS1, MGST1, MGST3

Undrugged target profiles

6 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
ARNT20—
BMAL20—
CYP4A22-AS10—
HMOX123—
MGST13—
MGST310—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 67

This page pulls from 67 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot