GLS2

Chr 12

glutaminase 2

Also known as: GA, GLS, LGA, hLGA

NCBI Gene: 27165ENSG00000135423UniProt: Q9UI32OMIM: 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]

OMIMResearchGenerating clinical summary…
2
Active trials
64
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 2.38
OE 0.58 (0.41–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.35Z-score
OE missense 0.64 (0.57–0.72)
221 obs / 343.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.58 (0.41–0.83)
0≤0.351.4
Missense OE?0.64 (0.57–0.72)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 22 / 37.8Missense obs/exp: 221 / 343.6Syn Z: 0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GLS2 · protein map & ClinVar variants

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

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