AMIGO2

Chr 12

adhesion molecule with Ig like domain 2

Also known as: ALI1, AMIGO-2, DEGA

NCBI Gene: 347902ENSG00000139211UniProt: Q86SJ2OMIM: 615690

Predicted to be involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; homophilic cell adhesion via plasma membrane adhesion molecules; and positive regulation of synapse assembly. Predicted to be located in nucleus and plasma membrane. Predicted to be active in membrane. Biomarker of gastric adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
20
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.55
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.55LOEUF
pLI 0.597
Z-score 2.59
OE 0.17 (0.07–0.55)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.98Z-score
OE missense 0.84 (0.76–0.93)
247 obs / 294.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.17 (0.07–0.55)
0≤0.351.4
Missense OE?0.84 (0.76–0.93)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 2 / 11.4Missense obs/exp: 247 / 294.1Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AMIGO2 · 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 →

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