KCNRG

Chr 13

potassium channel regulator

Also known as: DLTET

NCBI Gene: 283518ENSG00000198553UniProt: Q8N5I3

This gene encodes a protein that inhibits potassium fluxes by regulating Kv1 family voltage-gated potassium channels, potentially through retention of channels in endomembranes. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset typically in infancy or early childhood. The gene shows very low constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are unaffected.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
0
Pubs (1 yr)
60
P/LP submissions
0%
P/LP missense
1.63
LOEUF
DN
Mechanism· predicted
Clinical Summary— KCNRG
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
60 unique Pathogenic / Likely Pathogenic· 44 VUS of 107 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.63LOEUF
pLI 0.000
Z-score 0.27
OE 0.90 (0.51–1.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.21Z-score
OE missense 0.95 (0.83–1.10)
139 obs / 146.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.90 (0.51–1.63)
0≤0.351.4
Missense OE0.95 (0.83–1.10)
0≤0.61.4
Synonymous OE0.83
0≤1.21.6
LoF obs/exp: 7 / 7.8Missense obs/exp: 139 / 146.0Syn Z: 1.00
DN
0.6455th %ile
GOF
0.4974th %ile
LOF
0.3551th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

107 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic58
Likely Pathogenic2
VUS44
Likely Benign1
58
Pathogenic
2
Likely Pathogenic
44
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
58
0
58
Likely Pathogenic
0
0
2
0
2
VUS
0
38
6
0
44
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total039660105

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KCNRG · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients