RASD1

Chr 17

ras related dexamethasone induced 1

Also known as: AGS1, DEXRAS1, MGC:26290

NCBI Gene: 51655ENSG00000108551UniProt: Q9Y272

This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer's disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. Epigenetic inactivation of this gene is closely correlated with resistance to dexamethasone in multiple myeloma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2011]

164
ClinVar variants
115
Pathogenic / LP
0.04
pLI score
0
Active trials
Clinical Summary— RASD1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.04) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
115 Pathogenic / Likely Pathogenic· 48 VUS of 164 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.18LOEUF
pLI 0.039
Z-score 1.28
OE 0.46 (0.21–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.37Z-score
OE missense 0.92 (0.81–1.05)
160 obs / 173.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.46 (0.21–1.18)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.92 (0.81–1.05)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.96
0≤1.21.6
LoF obs/exp: 3 / 6.5Missense obs/exp: 160 / 173.9Syn Z: 0.28

ClinVar Variant Classifications

164 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic115
VUS48
Likely Benign1
115
Pathogenic
48
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
115
0
115
Likely Pathogenic
0
0
0
0
0
VUS
0
43
5
0
48
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total0441200164

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

View in ClinVar →

Protein Context — Lollipop Plot

RASD1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Single-cell RNA sequencing depicts the local cell landscape in thyroid-associated ophthalmopathy.
Li Z et al.·Cell Rep Med
2022
Uncovering endothelial to mesenchymal transition drivers in atherosclerosis via multi-omics analysis.
Huang Q et al.·BMC Cardiovasc Disord
2025
Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia.
Durmaz CD et al.·Balkan Med J
2022
Integration analysis using bioinformatics and experimental validation on cellular signalling for sex differences of hypertrophic cardiomyopathy.
Kuang H et al.·J Cell Mol Med
2024
Screening potential diagnostic biomarkers for PLA2R‑associated idiopathic membranous nephropathy by WGCNA analysis and LASSO algorithm.
Huang J et al.·Ren Fail
2025
KIAA1429 promotes gastric cancer progression by destabilizing RASD1 mRNA in an m(6)A-YTHDF2-dependent manner.
Ren M et al.·J Transl Med
2024
Potential circadian rhythm-related pathogenic genes in coronary artery disease: a Mendelian randomization study.
Zhang H et al.·Postgrad Med J
2026
HHQG ameliorates acute liver injury (ALI) by inhibiting NLRP3 activation through RASD1-mediated regulation of the PKCδ-NF-κB signaling pathway.
Ma C et al.·Sci Rep
2025
A personalized mRNA signature for predicting hypertrophic cardiomyopathy applying machine learning methods.
Gu J et al.·Sci Rep
2024
Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.
Chen H et al.·Am J Respir Cell Mol Biol
2018Meta-analysis
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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