LGALS2

Chr 22

galectin 2

Also known as: HL14

The protein encoded by this gene is a beta-galactoside binding lectin that forms homodimers and can bind to lymphotoxin-alpha. Variants in LGALS2 are associated with susceptibility to myocardial infarction. The gene shows low constraint against loss-of-function variants (pLI 0.02, LOEUF 1.48), suggesting tolerance to protein-truncating mutations.

OMIMResearchSummary from RefSeq, OMIM, UniProt
DNmechanismLOEUF 1.481 OMIM phenotype
Clinical SummaryLGALS2
Population Constraint (gnomAD)
Low constraint (pLI 0.02) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
19 unique Pathogenic / Likely Pathogenic· 24 VUS of 51 total submissions
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.48LOEUF
pLI 0.020
Z-score 0.86
OE 0.59 (0.271.48)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.36Z-score
OE missense 1.12 (0.941.34)
83 obs / 74.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.59 (0.271.48)
00.351.4
Missense OE1.12 (0.941.34)
00.61.4
Synonymous OE1.07
01.21.6
LoF obs/exp: 3 / 5.1Missense obs/exp: 83 / 74.2Syn Z: -0.31
DN
0.77top 25%
GOF
0.5367th %ile
LOF
0.2092th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

51 submitted variants in ClinVar

Classification Summary

Pathogenic18
Likely Pathogenic1
VUS24
Likely Benign3
Benign1
Conflicting1
18
Pathogenic
1
Likely Pathogenic
24
VUS
3
Likely Benign
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
18
0
18
Likely Pathogenic
0
0
1
0
1
VUS
0
20
4
0
24
Likely Benign
0
2
0
1
3
Benign
0
1
0
0
1
Conflicting
1
Total02323148

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

View in ClinVar →

Protein Context — Lollipop Plot

LGALS2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
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