OXSR1

Chr 3

oxidative stress responsive kinase 1

Also known as: OSR1

NCBI Gene: 9943ENSG00000172939UniProt: O95747OMIM: 604046

The OXSR1 protein is a serine/threonine kinase that phosphorylates and regulates ion cotransporters involved in cellular volume control, kidney sodium reabsorption, and response to osmotic stress. Mutations cause autosomal recessive pseudohypoaldosteronism type 2, characterized by hypertension, hyperkalemia, and metabolic acidosis typically presenting in infancy or childhood. The gene is highly constrained against loss-of-function variants (LOEUF 0.368), indicating intolerance to protein-truncating mutations.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.37
Clinical Summary— OXSR1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.77) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 43 VUS of 76 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.37LOEUF
pLI 0.774
Z-score 4.45
OE 0.20 (0.11–0.37)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.60Z-score
OE missense 0.56 (0.49–0.64)
151 obs / 271.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.20 (0.11–0.37)
0≤0.351.4
Missense OE0.56 (0.49–0.64)
0≤0.61.4
Synonymous OE1.10
0≤1.21.6
LoF obs/exp: 7 / 35.7Missense obs/exp: 151 / 271.7Syn Z: -0.76

ClinVar Variant Classifications

76 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS43
Likely Benign1
10
Pathogenic
1
Likely Pathogenic
43
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
0
36
7
0
43
Likely Benign
0
0
0
1
1
Benign
0
0
0
0
0
Total03618155

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

View in ClinVar →

Protein Context — Lollipop Plot

OXSR1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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