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Atlas / Disease / Asthma-related traits, susceptibility to, 2

Asthma-related traits, susceptibility to, 2

disease
On this page

Also known as ASRT2asthma, susceptibility to, 2asthma-related traits, susceptibility to, type 2

Summary

Asthma-related traits, susceptibility to, 2 (MONDO:0012067) is a disease with 1 cohort gene.

At a glance

  • Cohort genes: 1
  • ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameasthma-related traits, susceptibility to, 2
Mondo IDMONDO:0012067
OMIM608584
UMLSC1837811
MedGen324885
Is cancer (heuristic)no

Also known as: ASRT2 · asthma, susceptibility to, 2 · asthma-related traits, susceptibility to, 2 · asthma-related traits, susceptibility to, type 2

Data availability: 1 ClinVar variant · 1 GenCC gene-disease record.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › inherited susceptibility to asthma › asthma-related traits, susceptibility to, 2

Related subtypes (8): asthma-related traits, susceptibility to, 1, asthma-related traits, susceptibility to, 3, asthma-related traits, susceptibility to, 4, asthma-related traits, susceptibility to, 5, asthma-related traits, susceptibility to, 6, asthma-related traits, susceptibility to, 7, asthma-related traits, susceptibility to, 8, asthma, aspirin-induced, susceptibility to

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

1 retrieved; paginated sample, class counts are floors:

1 benign

ClinVarVariant (HGVS)GeneClassificationReview
2192NM_207172.2(NPSR1):c.320A>T (p.Asn107Ile)NPSR1Benignno assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

GeneClassificationInheritanceDiseaseRecords
NPSR1LimitedAutosomal dominantasthma-related traits, susceptibility to, 2

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
NPSR1HGNC:23631ENSG00000187258Q6W5P4Neuropeptide S receptorgencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
NPSR1Neuropeptide S receptorG-protein coupled receptor for neuropeptide S (NPS).

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
GPCR123.9×0.042

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
NPSR1GPCRyesGPCR_Rhodpsn, Vasoprsn_rcpt, GPCR_Rhodpsn_7TM

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)1
unknown0

Top tissues across cohort

TissueCohort genes
ganglionic eminence1
male germ line stem cell (sensu Vertebrata) in testis1
primordial germ cell in gonad1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
NPSR132tissue_specificmarkermale germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, ganglionic eminence

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
NPSR13,764

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
NPSR1Q6W5P481.88

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Peptide ligand-binding receptors174.2×0.017NPSR1
G alpha (s) signalling events173.2×0.017NPSR1
G alpha (q) signalling events157.4×0.017NPSR1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
negative regulation of defecation116852.0×4e-04NPSR1
negative regulation of eating behavior12808.7×0.001NPSR1
righting reflex11872.4×0.001NPSR1
eating behavior1601.9×0.003NPSR1
positive regulation of release of sequestered calcium ion into cytosol1495.6×0.003NPSR1
neuropeptide signaling pathway1172.0×0.007NPSR1
positive regulation of ERK1 and ERK2 cascade185.1×0.012NPSR1

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) 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
NPSR1PHENYLBUTAZONE

Top cohort targets by molecule count

SymbolMoleculesMax phase
NPSR11534

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
PHENYLBUTAZONE4NPSR1
CEFOTAXIME SODIUM4NPSR1
TELMISARTAN4NPSR1
PROGESTERONE4NPSR1
CLOTRIMAZOLE4NPSR1
COLCHICINE4NPSR1
BUMETANIDE4NPSR1
AMIODARONE HYDROCHLORIDE4NPSR1
TRICLABENDAZOLE4NPSR1
FELBAMATE4NPSR1
CHLORMADINONE ACETATE4NPSR1
SULFAPHENAZOLE4NPSR1
ARIPIPRAZOLE4NPSR1
AMOXAPINE4NPSR1
RALOXIFENE HYDROCHLORIDE4NPSR1
OXYBUTYNIN CHLORIDE4NPSR1
EZETIMIBE4NPSR1
PINACIDIL ANHYDROUS4NPSR1
CLOBETASOL PROPIONATE4NPSR1
NICARDIPINE HYDROCHLORIDE4NPSR1
SULCONAZOLE NITRATE4NPSR1
PROMAZINE HYDROCHLORIDE4NPSR1
DICYCLOMINE HYDROCHLORIDE4NPSR1
NEFAZODONE HYDROCHLORIDE4NPSR1
BROMOCRIPTINE MESYLATE4NPSR1
DIHYDROERGOTAMINE MESYLATE4NPSR1
GUANABENZ ACETATE4NPSR1
OXYMETHOLONE4NPSR1
CLOMIPRAMINE HYDROCHLORIDE4NPSR1
AMCINONIDE4NPSR1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

SymbolAssaysType breakdown
NPSR134Functional:25, Binding:9

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

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)
PHENYLBUTAZONE4NPSR1
CEFOTAXIME SODIUM4NPSR1
TELMISARTAN4NPSR1
PROGESTERONE4NPSR1
CLOTRIMAZOLE4NPSR1
COLCHICINE4NPSR1
BUMETANIDE4NPSR1
AMIODARONE HYDROCHLORIDE4NPSR1
TRICLABENDAZOLE4NPSR1
FELBAMATE4NPSR1
CHLORMADINONE ACETATE4NPSR1
SULFAPHENAZOLE4NPSR1
ARIPIPRAZOLE4NPSR1
AMOXAPINE4NPSR1
RALOXIFENE HYDROCHLORIDE4NPSR1
OXYBUTYNIN CHLORIDE4NPSR1
EZETIMIBE4NPSR1
PINACIDIL ANHYDROUS4NPSR1
CLOBETASOL PROPIONATE4NPSR1
NICARDIPINE HYDROCHLORIDE4NPSR1
SULCONAZOLE NITRATE4NPSR1
PROMAZINE HYDROCHLORIDE4NPSR1
DICYCLOMINE HYDROCHLORIDE4NPSR1
NEFAZODONE HYDROCHLORIDE4NPSR1
BROMOCRIPTINE MESYLATE4NPSR1
DIHYDROERGOTAMINE MESYLATE4NPSR1
GUANABENZ ACETATE4NPSR1
OXYMETHOLONE4NPSR1
CLOMIPRAMINE HYDROCHLORIDE4NPSR1
AMCINONIDE4NPSR1

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1NPSR1
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

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

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
v1.1.2
BioBTree
v2.0.2

Sources 66

This page pulls from 66 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentorphanetpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot