KCNJ13

Chr 2

potassium inwardly rectifying channel subfamily J member 13

Also known as: KIR1.4, KIR7.1, LCA16, SVD

NCBI Gene: 3769ENSG00000115474UniProt: O60928

This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSnowflake vitreoretinal degeneration
UniProtLeber congenital amaurosis 16

Clinical highlights

Gene-disease validity (ClinGen)
inherited retinal dystrophy · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.86
LOEUF
LOF*
Mechanism· G2P
📖
GeneReview available — KCNJ13
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.014
Z-score 1.92
OE 0.41 (0.21–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.93Z-score
OE missense 0.62 (0.53–0.71)
123 obs / 199.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.41 (0.21–0.86)
0≤0.351.4
Missense OE?0.62 (0.53–0.71)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 5 / 12.2Missense obs/exp: 123 / 199.9Syn Z: 0.91

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KCNJ13 · 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 →

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