GK2

Chr 4

glycerol kinase 2

Also known as: GKP2, GKTA

NCBI Gene: 2712ENSG00000196475UniProt: Q14410OMIM: 600148

Predicted to enable glycerol kinase activity. Predicted to be involved in several processes, including glycerol-3-phosphate biosynthetic process; sperm mitochondrial sheath assembly; and triglyceride metabolic process. Located in sperm midpiece. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.43
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.43LOEUF
pLI 0.000
Z-score 0.28
OE 0.93 (0.62–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.05Z-score
OE missense 1.01 (0.92–1.11)
297 obs / 294.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.93 (0.62–1.43)
0≤0.351.4
Missense OE?1.01 (0.92–1.11)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 15 / 16.2Missense obs/exp: 297 / 294.5Syn Z: -0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GK2 · 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.

Search ClinicalTrials.gov →

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