ABHD16B

Chr 20

abhydrolase domain containing 16B

Also known as: C20orf135, dJ591C20.1

NCBI Gene: 140701ENSG00000183260UniProt: Q9H3Z7

The protein functions as a phospholipase with high specificity for phosphatidylserine and as a monoacylglycerol lipase, playing a regulatory role in cellular lipid homeostasis. Mutations cause autosomal recessive developmental and epileptic encephalopathy with early infantile onset. The gene shows low constraint to loss-of-function mutations based on population genetics data.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
0
Pubs (1 yr)
38
P/LP submissions
0%
P/LP missense
1.19
LOEUF
DN
Mechanism· predicted
Clinical Summary— ABHD16B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
38 unique Pathogenic / Likely Pathogenic· 127 VUS of 168 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.19LOEUF
pLI 0.000
Z-score 1.10
OE 0.66 (0.39–1.19)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.51Z-score
OE missense 0.92 (0.83–1.01)
290 obs / 315.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.66 (0.39–1.19)
0≤0.351.4
Missense OE0.92 (0.83–1.01)
0≤0.61.4
Synonymous OE0.86
0≤1.21.6
LoF obs/exp: 8 / 12.1Missense obs/exp: 290 / 315.4Syn Z: 1.40
DN
0.6551th %ile
GOF
0.6247th %ile
LOF
0.2968th %ile

The highest-scoring mechanism for this gene is dominant-negative.

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

168 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic30
Likely Pathogenic8
VUS127
Likely Benign2
Conflicting1
30
Pathogenic
8
Likely Pathogenic
127
VUS
2
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
30
0
30
Likely Pathogenic
0
0
8
0
8
VUS
0
115
12
0
127
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Conflicting
—1
Total0117500168

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

View in ClinVar →

Protein Context — Lollipop Plot

ABHD16B · 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.

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Clinical Literature
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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 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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