LGALS12

Chr 11

galectin 12

Also known as: GAL12, GRIP1

NCBI Gene: 85329 ENSG00000133317 UniProt: Q96DT0 OMIM: 606096

The protein binds lactose and may participate in adipocyte apoptosis as a member of the galectin superfamily of beta-galactoside-binding proteins. This gene is highly constrained against loss-of-function variants, but no clearly established human genetic disorders have been definitively linked to LGALS12 mutations in the pediatric literature to date.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the galectin superfamily, a group of beta-galactoside-binding proteins with conserved carbohydrate recognition domains. The related mouse protein is a primary regulator of the early stages of adipose tissue development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]

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

Mechanism· predicted

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 LGALS12?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

429 rare PASS variants

Rare truncating (LoF)

1 in 590

73 rare PASS variants

Rare synonymous (reference)

1 in 280

166 rare PASS variants

Rare missense and truncating variants are carried at similar rates in LGALS12; this gene does not show strong loss-of-function constraint by this measure. 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 280	1 in 640
South Asian	~43k	1 in 120	1 in 1,000
Remaining (unassigned)	~30k	1 in 110	1 in 380
European (Finnish)	~27k	1 in 1,200	1 in 2,200
Admixed American	~22k	1 in 120	1 in 570
African / African American	~21k	1 in 73	1 in 1,300
East Asian	~20k	1 in 100	≈ 1 in 5,000
Ashkenazi Jewish	~13k	1 in 720	1 in 570
Middle Eastern	~2,884	1 in 120	≈ 1 in 2,900

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.