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Gene

KCNJ5

KCNJ5 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (1), Actionable biomarkers (2), Trial mentions (1), and 6 more evidence types, each linked to its source.

Ensembl ENSG00000120457 UniProt P48544 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 1 Actionable biomarkers Actionable biomarkers 2 Trial mentions Trial mentions 1 Target-disease associations Target-disease associations 267 Vendor sourcing Vendor sourcing 23 Trial-cited literature Trial-cited literature 39 Protein variant mentions Protein variant mentions 30 Literature-extracted relations Literature-extracted relations 25 Assay-provider ledger Assay-provider ledger 1 Actionable biomarkers Actionable biomarkers 2 Trial mentions Trial mentions 1 Target-disease associations Target-disease associations 267 Vendor sourcing Vendor sourcing 23 Trial-cited literature Trial-cited literature 39 Protein variant mentions Protein variant mentions 30 Literature-extracted relations Literature-extracted relations 25

Rows recorded per section (log scale)

1 more section with rows · 3 sections measured, none recorded

Cancer actionable (CGI)

Curated as clinically actionable in cancer by the Cancer Genome Interpreter.

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The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention KCNJ5. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers.

KCNJ5 has 1 trial mention across 1 year. That is too few to read as a trend, so the years are listed instead.

The yearly numbers
KCNJ5 per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2026. The share is of the trials and papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Trial mentions Share of that year Publication mentions Share of that year
2026 0 of 8,738 0.00% not measured
2025 0 of 8,875 0.00% not measured
2024 0 of 8,597 0.00% not measured
2023 0 of 8,275 0.00% 3 of 11,460 0.03%
2022 0 of 8,285 0.00% 3 of 13,598 0.02%
2021 0 of 8,692 0.00% 4 of 15,045 0.03%
2020 0 of 7,640 0.00% 5 of 14,459 0.03%
2019 0 of 7,300 0.00% 1 of 12,159 0.01%
2018 0 of 6,927 0.00% 4 of 11,854 0.03%
2017 0 of 6,558 0.00% 10 of 11,595 0.09%

Assay-provider ledger (1)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Transgenomic Diagnostic provider Clinical validation 1 October 01, 2018

Actionable biomarkers (2)

Shown in this order: fixed catalogue order, not ranked.

Actionable biomarkers
Alteration Drug Response Disease Source
KCNJ5 (L168R) VERAPAMIL response-associated adrenocortical adenoma Cancer Genome Interpreter
KCNJ5 (L168R) Amiloride response-associated adrenocortical adenoma Cancer Genome Interpreter

Trial mentions (1)

Shown in this order: fixed catalogue order, not by date.

Trial mentions
Trial Source
NCT02945904 Trial biospecimen (AACT)

Target-disease associations (267)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
Abnormal blistering of the skin phenotype GWAS credible sets
Abnormality of the cardiovascular system phenotype Variant curation (ClinVar / EVA)
Andersen-Tawil syndrome genetic, familial or congenital disease Literature (Europe PMC)
Andersen-Tawil syndrome genetic, familial or congenital disease orphanet
Arrhythmogenic right ventricular dysplasia cardiovascular disease Mouse knockout (IMPC)

Vendor sourcing (23)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein functio... View ClinVar record SCV000319802.7
Barts and the London School of Medicine and Dentistry W Smithfield London - City of London EC1A 7BE Trial collaborator Biospecimen collected in a trialTrial biospecimen collection No supporting text recorded; see the citation. View trial NCT02945904
Barts and the London School of Medicine and Dentistry W Smithfield London - City of London EC1A 7BE Trial collaborator Mentioned in trial textTrial free-text mention KCNJ5 View trial NCT02945904
DASA (Brazil) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission NM_000890.5(KCNJ5):c.616G>A (p.Ala206Thr) is a missense variant that results in the substitution of alanine with threonine. This variant is rare in populatio... View ClinVar record SCV007667465.2
GeneDx Holdings Corp. Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserv... View ClinVar record SCV000169928.12

Trial-cited literature (39)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
[<sup>11</sup>C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: a prospective, within-patient trial. Nature medicine 2023 114
Corticotropin Stimulation in Adrenal Venous Sampling for Patients With Primary Aldosteronism: The ADOPA Randomized Clinical Trial. JAMA network open 2023 23
Autonomous cortisol secretion in patients with primary aldosteronism: prevalence and implications on cardiometabolic profile and on surgical outcomes. Endocrine connections 2023 21
Overview of the 2022 WHO Classification of Adrenal Cortical Tumors. Endocrine pathology 2022 269
Co-Occurrence of Tic Disorders and Attention-Deficit/Hyperactivity Disorder-Does It Reflect a Common Neurobiological Background? Biomedicines 2022 12

Protein variant mentions (30)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A206T 1 2015 PMID 25741868
p.A396T 1 2015 PMID 25741868
p.D123N 1 2015 PMID 25741868
p.D395A 1 2015 PMID 25741868
p.E145K 1 2023 PMID 36646800

Literature-extracted relations (25)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Aldosterone Chemical positive_correlate Cortisol Co-Secretion and Clinical Usefulness of ACTH Stimulation Test in Primary Aldosteronism: A Systematic Review and Biases in Epidemiological Studies. 2021
Aldosterone Chemical associate Tumor Cell Subtypes Based on the Intracellular Hormonal Activity in KCNJ5-Mutated Aldosterone-Producing Adenoma. 2018
lipids Chemical associate Tumor Cell Subtypes Based on the Intracellular Hormonal Activity in KCNJ5-Mutated Aldosterone-Producing Adenoma. 2018
Aldosterone Chemical associate Macrolides Blunt Aldosterone Biosynthesis: A Proof-of-Concept Study in <i>KCNJ5</i> Mutated Adenoma Cells Ex Vivo. 2017
Clarithromycin Chemical associate Macrolides Blunt Aldosterone Biosynthesis: A Proof-of-Concept Study in <i>KCNJ5</i> Mutated Adenoma Cells Ex Vivo. 2017

Organizations publishing (131)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Harvard Medical School Academic 3 2020 to 2021
Mayo Clinic Hospital 3 2013 to 2022
University of Turin Academic 3 2020 to 2022
Mass General Brigham Hospital 2 2020 to 2021
University of Ottawa Academic 2 2021

Where KCNJ5 appears

  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • immune system disease
  • infectious disease
  • measurement
  • nervous system disease
  • nutritional or metabolic disease
  • phenotype
  • respiratory or thoracic disease
  • urinary system disease

236 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions, fda biomarker qualification projects, and human sample screening reference.

Browse all biomarker evidence pages