GK3
protein-codingglycerol kinase 3, the group of Glycerol kinases
Gene summary
Predicted to enable glycerol kinase activity. Predicted to be involved in glycerol metabolic process; glycerol-3-phosphate biosynthetic process; and triglyceride metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
- GKP3
- GK3P
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~1.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to GK3 variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001382882.1 | 1 | MANE Select | |
| Ensembl | ENSP00000489687.1 | 1 | MANE Select |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- PPAR signaling pathway
- Metabolism of lipids
- Metabolism
- CDP-diacylglycerol biosynthesis
- Glycerophospholipid metabolism
Biological Process
- glycerol metabolic process
- triglyceride metabolic process
- phosphorylation
- glycerol catabolic process
- glycerol-3-phosphate biosynthetic process
Molecular Function
- glycerol kinase activity
- ATP binding
Cellular Component
- cytoplasm
- mitochondrion
- mitochondrial outer membrane
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Key enzyme in the regulation of glycerol uptake and metabolism.;
Recessive Scores
- pRec
- 0.444