AMOTL2

Chr 3

angiomotin like 2

Also known as: LCCP

NCBI Gene: 51421ENSG00000114019UniProt: Q9Y2J4OMIM: 614658

Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

OMIMResearchGenerating clinical summary…
LOEUF 0.43
Clinical Summary— AMOTL2
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.43LOEUF
pLI 0.155
Z-score 4.24
OE 0.25 (0.15–0.43)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.08Z-score
OE missense 0.99 (0.92–1.07)
483 obs / 487.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.25 (0.15–0.43)
0≤0.351.4
Missense OE?0.99 (0.92–1.07)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 9 / 36.7Missense obs/exp: 483 / 487.7Syn Z: 0.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AMOTL2 · 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.

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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