RGS16

Chr 1

regulator of G protein signaling 16

Also known as: A28-RGS14, A28-RGS14P, RGS-R

The protein encoded by this gene belongs to the 'regulator of G protein signaling' family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
MultiplemechanismLOEUF 1.60
Clinical SummaryRGS16
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.60LOEUF
pLI 0.000
Z-score 0.26
OE 0.91 (0.531.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.43Z-score
OE missense 0.89 (0.751.05)
100 obs / 112.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.91 (0.531.60)
00.351.4
Missense OE?0.89 (0.751.05)
00.61.4
Synonymous OE?0.91
01.21.6
LoF obs/exp: 8 / 8.8Missense obs/exp: 100 / 112.7Syn Z: 0.50

This gene — mechanism propensity

DN
0.7035th %ile
GOF
0.77top 25%
LOF
0.2483th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RGS16 · 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

No active trials found for this gene.

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