ABI2

Chr 2

abl interactor 2

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

NCBI Gene: 10152ENSG00000138443UniProt: Q9NYB9

Enables several functions, including SH3 domain binding activity; proline-rich region binding activity; and ubiquitin protein ligase binding activity. Contributes to small GTPase binding activity. Involved in several processes, including Rac protein signal transduction; positive regulation of cellular component organization; and zonula adherens assembly. Acts upstream of or within peptidyl-tyrosine phosphorylation. Located in several cellular components, including actin filament; filopodium tip; and lamellipodium. Part of SCAR complex. Is active in adherens junction. [provided by Alliance of Genome Resources, Jul 2025]

74
ClinVar variants
29
Pathogenic / LP
0.43
pLI score
0
Active trials
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 Pathogenic / Likely Pathogenic· 35 VUS of 74 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
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.
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?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.
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?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.0.22 (0.11–0.46)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.61 (0.54–0.70)
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.0.86
0≤1.21.6
LoF obs/exp: 5 / 22.9Missense obs/exp: 163 / 266.2Syn Z: 1.02

ClinVar Variant Classifications

74 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic28
Likely Pathogenic1
VUS35
28
Pathogenic
1
Likely Pathogenic
35
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
32
2
0
35
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total13231064

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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
ABL INTERACTOR 2; ABI2
MIM #606442 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Role of Thyroid Hormone in Neurodegenerative Disorders of Older People.
Mooradian AD et al.·Cells
2025Review
Association of Abl interactor 2, ABI2, with platelet/lymphocyte ratio in patients with renal cell carcinoma: A pilot study.
Ergun S et al.·Int J Exp Pathol
2020Cohort
[Role of Abelson interactor 2 in progression and prognosis of gastric cancer and its regulatory mechanisms].
Chen X et al.·Nan Fang Yi Ke Da Xue Xue Bao
2024Functional
Long Non-coding RNA and mRNA Co-expression Network Reveals Novel Players in Pleomorphic Xanthoastrocytoma.
Dandapath I et al.·Mol Neurobiol
2022
HCMV pUL135 remodels the actin cytoskeleton to impair immune recognition of infected cells.
Stanton RJ et al.·Cell Host Microbe
2014Functional
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Harripaul R et al.·Mol Psychiatry
2018
Prediction of claudication pain from clinical measurements obtained at rest.
Gardner AW et al.·Med Sci Sports Exerc
1992
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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