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Atlas / Disease / Gastric cardia carcinoma

Gastric cardia carcinoma

disease
On this page

Also known as cancer of gastric cardiacancer of the gastric cardiacarcinoma of cardia of stomachcarcinoma of gastric cardiacarcinoma of the cardia of the stomachcarcinoma of the gastric cardiacardia of stomach carcinomagastric cardia (stomach) cancergastric cardia cancer

Summary

Gastric cardia carcinoma (MONDO:0003834) is a cancer with 1 cohort gene (1 GWAS associations across 1 studies) and 2 clinical trials.

At a glance

  • Classification: Cancer
  • Cohort genes: 1
  • GWAS associations: 1
  • Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namegastric cardia carcinoma
Mondo IDMONDO:0003834
EFOEFO:1001252
DOIDDOID:6270
NCITC6794
UMLSC1333763
MedGen234295
GARD0027649
Anatomy (UBERON)UBERON:0001162
Is cancer (heuristic)yes

Also known as: cancer of gastric cardia · cancer of the gastric cardia · carcinoma of cardia of stomach · carcinoma of gastric cardia · carcinoma of the cardia of the stomach · carcinoma of the gastric cardia · cardia of stomach carcinoma · gastric cardia (stomach) cancer · gastric cardia cancer

Data availability: 1 GWAS association (1 study).

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › digestive system cancer › gastric cancer › cardia cancer › gastric cardia carcinoma

Subtypes (2): gastric cardia adenocarcinoma, carcinoma in situ of gastric cardia

Genetics & variants

GWAS landscape

1 GWAS associations across 1 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs100749917e-12PRKAA1G1.2

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST003009Hu N20151,1892,708Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic1

MAF distribution

BucketVariants
common (>=0.05)1
low_freq (0.01-0.05)0
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs10074991540790449G>A0.483intron_variantPRKAA17e-12Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
PRKAA1HGNC:9376ENSG00000132356Q131315’-AMP-activated protein kinase catalytic subunit alpha-1gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
PRKAA15’-AMP-activated protein kinase catalytic subunit alpha-1Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism.

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
Kinase127.7×0.036

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
PRKAA1Kinaseyes2.7.11.1Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf

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
calcaneal tendon1
rectum1
sperm1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
PRKAA1268ubiquitousmarkercalcaneal tendon, sperm, rectum

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
PRKAA13,717

Structural data

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

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
PRKAA1Q1313112

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 19. 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
Energy dependent regulation of mTOR by LKB1-AMPK1393.8×0.015PRKAA1
Activation of AMPK downstream of NMDARs1380.7×0.015PRKAA1
MTOR signalling1265.6×0.015PRKAA1
Post NMDA receptor activation events1203.9×0.015PRKAA1
AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)1193.6×0.015PRKAA1
Activation of NMDA receptors and postsynaptic events1184.2×0.015PRKAA1
Autophagy1148.3×0.015PRKAA1
Regulation of TP53 Activity1132.8×0.015PRKAA1
TP53 Regulates Metabolic Genes1129.8×0.015PRKAA1
Regulation of TP53 Activity through Phosphorylation1117.7×0.015PRKAA1
Macroautophagy1115.3×0.015PRKAA1
Neurotransmitter receptors and postsynaptic signal transmission1100.2×0.016PRKAA1
Transmission across Chemical Synapses176.1×0.019PRKAA1
Transcriptional Regulation by TP53162.1×0.022PRKAA1
Neuronal System144.3×0.029PRKAA1
RNA Polymerase II Transcription122.5×0.053PRKAA1
Gene expression (Transcription)117.8×0.063PRKAA1
Generic Transcription Pathway115.1×0.070PRKAA1
Signal Transduction110.2×0.098PRKAA1

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 glucosylceramide biosynthetic process116852.0×0.002PRKAA1
positive regulation of mitochondrial transcription18426.0×0.002PRKAA1
cold acclimation15617.3×0.002PRKAA1
regulation of stress granule assembly15617.3×0.002PRKAA1
protein localization to lipid droplet14213.0×0.002PRKAA1
negative regulation of tubulin deacetylation13370.4×0.002PRKAA1
positive regulation of skeletal muscle tissue development12808.7×0.002PRKAA1
CAMKK-AMPK signaling cascade12808.7×0.002PRKAA1
negative regulation of hepatocyte apoptotic process12808.7×0.002PRKAA1
positive regulation of T cell mediated immune response to tumor cell12407.4×0.002PRKAA1
response to caffeine12407.4×0.002PRKAA1
lipid droplet disassembly12407.4×0.002PRKAA1
positive regulation of protein localization11404.3×0.003PRKAA1
regulation of vascular permeability11123.5×0.003PRKAA1
positive regulation of cholesterol biosynthetic process11123.5×0.003PRKAA1
regulation of vesicle-mediated transport11123.5×0.003PRKAA1
fatty acid oxidation11053.2×0.003PRKAA1
cellular response to ethanol11053.2×0.003PRKAA1
positive regulation of adipose tissue development11053.2×0.003PRKAA1
lipid biosynthetic process1991.3×0.003PRKAA1
fatty acid homeostasis1936.2×0.003PRKAA1
cellular response to stress1842.6×0.003PRKAA1
negative regulation of lipid catabolic process1842.6×0.003PRKAA1
cellular response to prostaglandin E stimulus1842.6×0.003PRKAA1
negative regulation of ferroptosis1802.5×0.003PRKAA1
positive regulation of glycolytic process1674.1×0.004PRKAA1
protein localization to membrane1601.9×0.004PRKAA1
response to gamma radiation1581.1×0.004PRKAA1
negative regulation of TOR signaling1561.7×0.004PRKAA1
motor behavior1561.7×0.004PRKAA1

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
PRKAA1ADENOSINE PHOSPHATE

Top cohort targets by molecule count

SymbolMoleculesMax phase
PRKAA1464

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
ADENOSINE PHOSPHATE4PRKAA1
FEDRATINIB4PRKAA1
PALBOCICLIB4PRKAA1
ENTRECTINIB4PRKAA1
CAPIVASERTIB4PRKAA1
VANDETANIB4PRKAA1
BOSUTINIB4PRKAA1
UPADACITINIB4PRKAA1
NINTEDANIB4PRKAA1
SUNITINIB4PRKAA1
CRIZOTINIB4PRKAA1
MIDOSTAURIN4PRKAA1
CRENOLANIB3PRKAA1
RIPASUDIL3PRKAA1
ALVOCIDIB3PRKAA1
DOVITINIB3PRKAA1
LESTAURTINIB3PRKAA1
PREXASERTIB2PRKAA1
NARAZACICLIB2PRKAA1
SILMITASERTIB2PRKAA1
FORETINIB2PRKAA1
SU-0148132PRKAA1
CENISERTIB2PRKAA1
ILORASERTIB2PRKAA1
LY-20903142PRKAA1
DANUSERTIB2PRKAA1
R-4062PRKAA1
AT-92832PRKAA1
RAF-2652PRKAA1
SOTRASTAURIN2PRKAA1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

SymbolAssaysType breakdown
PRKAA1738Binding:734, Functional:4

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
PRKAA12.7.11.1, 2.7.11.31non-specific serine/threonine protein kinase, [hydroxymethylglutaryl-CoA reductase (NADPH)] kinase

Cohort genes with high screening signal

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

SymbolChEMBL assays
PRKAA1738

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).

Drug repurposing candidates

30 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

CompoundMax phaseCohort target (bioactivity)
ADENOSINE PHOSPHATE4PRKAA1
FEDRATINIB4PRKAA1
PALBOCICLIB4PRKAA1
ENTRECTINIB4PRKAA1
CAPIVASERTIB4PRKAA1
VANDETANIB4PRKAA1
BOSUTINIB4PRKAA1
UPADACITINIB4PRKAA1
NINTEDANIB4PRKAA1
SUNITINIB4PRKAA1
CRIZOTINIB4PRKAA1
MIDOSTAURIN4PRKAA1
CRENOLANIB3PRKAA1
RIPASUDIL3PRKAA1
ALVOCIDIB3PRKAA1
DOVITINIB3PRKAA1
LESTAURTINIB3PRKAA1
PREXASERTIB2PRKAA1
NARAZACICLIB2PRKAA1
SILMITASERTIB2PRKAA1
FORETINIB2PRKAA1
SU-0148132PRKAA1
CENISERTIB2PRKAA1
ILORASERTIB2PRKAA1
LY-20903142PRKAA1
DANUSERTIB2PRKAA1
R-4062PRKAA1
AT-92832PRKAA1
RAF-2652PRKAA1
SOTRASTAURIN2PRKAA1

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1PRKAA1
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: 2.

Phase distribution (across all retrieved trials)

PhaseTrials
PHASE1/PHASE21
Not specified1

Top trials by phase / activity

NCTPhaseStatusTitle
NCT00821912PHASE1/PHASE2UNKNOWNTaxXel: Taxotere and Xeloda in Esophageal Cancer
NCT06702891Not specifiedRECRUITINGIntegrative Analysis of Exosome-Mediated Single-Cell Transcriptomics and Proteomics in Gastric Cardia Cancer

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
CHEMBL151089901

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 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetciviccivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterprointogenmedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptuberonufeatureumlsuniprot