TATDN2

Chr 3

TatD DNase domain containing 2

TATDN2 encodes a magnesium-dependent RNA nuclease that resolves R-loops (RNA-DNA hybrid structures) to maintain genomic stability in the nucleus. The gene is highly constrained against loss-of-function variants (pLI ~0, LOEUF 0.84), but associated diseases and inheritance patterns have not yet been established in the medical literature.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.84
Clinical SummaryTATDN2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
44 unique Pathogenic / Likely Pathogenic· 112 VUS of 180 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.84LOEUF
pLI 0.000
Z-score 2.22
OE 0.54 (0.360.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.05Z-score
OE missense 1.01 (0.931.09)
423 obs / 419.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.54 (0.360.84)
00.351.4
Missense OE1.01 (0.931.09)
00.61.4
Synonymous OE1.07
01.21.6
LoF obs/exp: 15 / 27.6Missense obs/exp: 423 / 419.9Syn Z: -0.65

ClinVar Variant Classifications

180 submitted variants in ClinVar

Classification Summary

Pathogenic41
Likely Pathogenic3
VUS112
Likely Benign10
41
Pathogenic
3
Likely Pathogenic
112
VUS
10
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
41
0
41
Likely Pathogenic
0
0
3
0
3
VUS
0
100
12
0
112
Likely Benign
0
7
0
3
10
Benign
0
0
0
0
0
Total0107563166

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

View in ClinVar →

Protein Context — Lollipop Plot

TATDN2 · 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

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 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC