ABI2

Chr 2

abl interactor 2

Also known as: ABI-2, ABI2B, AIP-1, AIP1, AblBP3, SSH3BP2, argBP1, argBPIA

NCBI Gene: 10152ENSG00000138443UniProt: Q9NYB9OMIM: 606442

The ABI2 protein regulates actin cytoskeleton dynamics as a component of the WAVE complex, controlling cell motility, adhesion, and dendritic spine morphogenesis in neurons. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, affecting neurological development and growth. The gene shows high constraint against loss-of-function mutations (LOEUF 0.46), indicating that complete loss of protein function is poorly tolerated.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.46
Clinical Summary— ABI2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.
📋
ClinVar Variants
29 unique Pathogenic / Likely Pathogenic· 37 VUS of 76 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.46LOEUF
pLI 0.431
Z-score 3.46
OE 0.22 (0.11–0.46)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.25Z-score
OE missense 0.61 (0.54–0.70)
163 obs / 266.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.22 (0.11–0.46)
0≤0.351.4
Missense OE0.61 (0.54–0.70)
0≤0.61.4
Synonymous OE0.86
0≤1.21.6
LoF obs/exp: 5 / 22.9Missense obs/exp: 163 / 266.2Syn Z: 1.02

ClinVar Variant Classifications

76 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic28
Likely Pathogenic1
VUS37
28
Pathogenic
1
Likely Pathogenic
37
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
28
0
28
Likely Pathogenic
0
0
1
0
1
VUS
1
34
2
0
37
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total13431066

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

View in ClinVar →

Protein Context — Lollipop Plot

ABI2 · 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 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