SGK1

Chr 6

serum/glucocorticoid regulated kinase 1

Also known as: SGK

NCBI Gene: 6446ENSG00000118515UniProt: O00141

This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]

GeneReviewsResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
190
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.58
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — SGK1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.58LOEUF
pLI 0.002
Z-score 3.32
OE 0.34 (0.21–0.58)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.25Z-score
OE missense 0.80 (0.71–0.89)
236 obs / 296.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.34 (0.21–0.58)
0≤0.351.4
Missense OE?0.80 (0.71–0.89)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 10 / 29.4Missense obs/exp: 236 / 296.5Syn Z: -0.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SGK1 · 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