AMIGO2

Chr 12

adhesion molecule with Ig like domain 2

Also known as: ALI1, AMIGO-2, DEGA

NCBI Gene: 347902 ENSG00000139211 UniProt: Q86SJ2 OMIM: 615690

Predicted to be involved in several processes, including heterophilic cell-cell adhesion; homophilic cell-cell adhesion; 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, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in AMIGO2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

617 rare PASS variants

Rare truncating (LoF)

1 in 5,300

52 rare PASS variants

Rare synonymous (reference)

1 in 300

278 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for AMIGO2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 170	1 in 4,600
South Asian	~43k	1 in 130	≈ 1 in 11,000
Remaining (unassigned)	~30k	1 in 90	1 in 5,000
European (Finnish)	~27k	1 in 310	none seen
Admixed American	~22k	1 in 150	≈ 1 in 11,000
African / African American	~21k	1 in 160	≈ 1 in 8,400
East Asian	~20k	1 in 92	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 1,500	≈ 1 in 5,000
Middle Eastern	~2,884	1 in 100	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓