ADAD2

Chr 16

adenosine deaminase domain containing 2

Also known as: TENRL

NCBI Gene: 161931ENSG00000140955UniProt: Q8NCV1

The protein functions as a double-stranded RNA adenosine deaminase that performs adenosine to inosine editing during RNA processing and is required for male fertility and normal male germ cell differentiation. Based on the extremely low pLI score (2.39e-12) and LOEUF score above 1 (1.144), this gene appears highly tolerant to loss-of-function mutations. No specific diseases associated with ADAD2 mutations have been established in the provided clinical data.

Summary from RefSeq, UniProt
0
Active trials
1
Pubs (1 yr)
45
P/LP submissions
0%
P/LP missense
1.14
LOEUF
—
Mechanism
Clinical Summary— ADAD2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
45 unique Pathogenic / Likely Pathogenic· 185 VUS of 254 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.14LOEUF
pLI 0.000
Z-score 0.98
OE 0.79 (0.56–1.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-2.36Z-score
OE missense 1.32 (1.24–1.42)
553 obs / 417.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.79 (0.56–1.14)
0≤0.351.4
Missense OE1.32 (1.24–1.42)
0≤0.61.4
Synonymous OE1.50
0≤1.21.6
LoF obs/exp: 21 / 26.4Missense obs/exp: 553 / 417.4Syn Z: -5.47

ClinVar Variant Classifications

254 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic7
VUS185
Likely Benign15
Benign1
38
Pathogenic
7
Likely Pathogenic
185
VUS
15
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
37
0
38
Likely Pathogenic
0
0
7
0
7
VUS
0
162
23
0
185
Likely Benign
0
13
0
2
15
Benign
0
0
1
0
1
Total1175682246

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

View in ClinVar →

Protein Context — Lollipop Plot

ADAD2 · 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

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 4 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