ADAP2

Chr 17

ArfGAP with dual PH domains 2

Also known as: CENTA2, HSA272195, cent-b

NCBI Gene: 55803UniProt: Q9NPF8

The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]

116
ClinVar variants
47
Pathogenic / LP
0.00
pLI score
0.8
Missense Z
1.08
LOEUF
0
Active trials
Clinical Summary— ADAP2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
47 Pathogenic / Likely Pathogenic· 67 VUS of 116 total submissions
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.08LOEUF
pLI 0.000
Z-score 1.26
OE 0.73 (0.50–1.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.80Z-score
OE missense 0.84 (0.74–0.95)
172 obs / 204.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.73 (0.50–1.08)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.84 (0.74–0.95)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.88
0≤1.21.6
LoF obs/exp: 18 / 24.8Missense obs/exp: 172 / 204.3Syn Z: 0.83

ClinVar Variant Classifications

116 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic42
Likely Pathogenic5
VUS67
Likely Benign2
42
Pathogenic
5
Likely Pathogenic
67
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
42
0
42
Likely Pathogenic
0
0
5
0
5
VUS
1
50
16
0
67
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total152630116

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

View in ClinVar →

Protein Context — Lollipop Plot

ADAP2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
LY6E Restricts Entry of Human Coronaviruses, Including Currently Pandemic SARS-CoV-2.
Zhao X et al.·J Virol
2020
Down regulation of Cathepsin W is associated with poor prognosis in pancreatic cancer.
Khojasteh-Leylakoohi F et al.·Sci Rep
2023
Multisite learning of high-dimensional heterogeneous data with applications to opioid use disorder study of 15,000 patients across 5 clinical sites.
Liu X et al.·Sci Rep
2022Cohort
NF1 microdeletion syndrome: case report of two new patients.
Serra G et al.·Ital J Pediatr
2019Case report
Collapsing the list of myocardial infarction-related differentially expressed genes into a diagnostic signature.
Osmak G et al.·J Transl Med
2020
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.
Ferrari L et al.·Hum Genet
2017
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
ArfGAP with Dual Pleckstrin Homology Domains 2 Promotes Hypertrophy of Cultured Neonatal Cardiomyocytes.
Berthiaume J et al.·Int J Mol Sci
2025
Association of Lifestyle-Induced Weight Loss With Gene Expression in Subcutaneous Adipose Tissue in Metabolic Syndrome
Zimmermann S et al.·J Diabetes
2025
Identification of key genes as predictive biomarkers for osteosarcoma metastasis using translational bioinformatics
Ding FP et al.·Cancer Cell Int
2021
Lessons in self-defence: inhibition of virus entry by intrinsic immunity
Majdoul S et al.·Nat Rev Immunol
2022
Gene signatures associated with barrier dysfunction and infection in oral lichen planus identified by analysis of transcriptomic data
Vo PT et al.·PLoS One
2021
Identification of key genes for atherosclerosis in different arterial beds
Wu X et al.·Sci Rep
2024
Top 6 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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