GLS2

Chr 12

glutaminase 2

Also known as: GA, GLS, LGA, hLGA

NCBI Gene: 27165 ENSG00000135423 UniProt: Q9UI32 OMIM: 606365

The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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LOEUF

Multiple*

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 GLS2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

640 rare PASS variants

Rare truncating (LoF)

1 in 1,300

139 rare PASS variants

Rare synonymous (reference)

1 in 210

243 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GLS2. 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 190	1 in 1,400
South Asian	~43k	1 in 110	1 in 710
Remaining (unassigned)	~30k	1 in 170	1 in 1,500
European (Finnish)	~27k	1 in 310	1 in 1,800
Admixed American	~22k	1 in 130	1 in 1,300
African / African American	~21k	1 in 120	1 in 650
East Asian	~20k	1 in 120	1 in 580
Ashkenazi Jewish	~13k	1 in 230	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 170	≈ 1 in 720

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.