ART3

Chr 4

ADP-ribosyltransferase 3 (inactive)

Also known as: ARTC3

NCBI Gene: 419ENSG00000156219UniProt: Q13508

The protein is an arginine-specific ADP-ribosyltransferase that catalyzes the addition or removal of ADP-ribose to arginine residues on target proteins to regulate their function. The gene is extremely intolerant to loss-of-function variants (pLI near 1.0), suggesting that complete loss of protein function would be incompatible with normal development. However, no specific human diseases have been definitively associated with ART3 mutations in the current literature.

ResearchSummary from RefSeq
GOFmechanismLOEUF 1.43
Clinical Summary— ART3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
22 unique Pathogenic / Likely Pathogenic· 104 VUS of 159 total submissions
Explore recent and relevant literature in Research Assistant →
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
1.43LOEUF
pLI 0.000
Z-score 0.01
OE 1.00 (0.71–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.15Z-score
OE missense 0.97 (0.86–1.09)
192 obs / 197.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.00 (0.71–1.43)
0≤0.351.4
Missense OE0.97 (0.86–1.09)
0≤0.61.4
Synonymous OE0.96
0≤1.21.6
LoF obs/exp: 22 / 22.0Missense obs/exp: 192 / 197.7Syn Z: 0.27
DN
0.5772th %ile
GOF
0.6442th %ile
LOF
0.2484th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction 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

159 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
VUS104
Likely Benign7
Benign2
22
Pathogenic
104
VUS
7
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
22
0
22
Likely Pathogenic
0
0
0
0
0
VUS
0
96
8
0
104
Likely Benign
0
5
1
1
7
Benign
0
1
0
1
2
Total0102312135

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

View in ClinVar →

Protein Context — Lollipop Plot

ART3 · 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 5 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