GK2 Gene - Glycerol Kinase 2
A comprehensive resource on GK2 gene, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | GK2 |
|---|---|
| Full Name | Glycerol Kinase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q21.21 |
| NCBI Gene ID | 2712 ncbi.nlm.nih.gov/gene/2712 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q14410 |
| OMIM ID | 600148 |
| HGNC ID | 4290 |
| Aliases | GK, GKD, GK1 |
Description
GK2 (Glycerol Kinase 2) is a protein-coding gene located on chromosome 4q21.21. It encodes an enzyme that catalyzes the phosphorylation of glycerol to glycerol-3-phosphate, a key step in glycerol metabolism and triglyceride synthesis. The gene is primarily expressed in the testis and is involved in energy homeostasis and male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycerol Kinase Deficiency (GKD) | Loss-of-function mutations in GK2 impair glycerol phosphorylation, leading to glycerol accumulation in blood and urine, often associated with metabolic acidosis and hypoglycemia. | ClinVar, OMIM |
| Male Infertility | Reduced GK2 expression or activity in testis may disrupt spermatogenesis and sperm energy metabolism. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 1.2 | Low |
| Liver | 0.8 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.3 | Low expression |
| HeLa | 0.1 | Not detected |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Thr35Met) | Missense | <0.01% | Reduced enzyme activity; associated with glycerol kinase deficiency |
| c.457G>A (p.Gly153Arg) | Missense | <0.01% | Loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Thr35Met, p.Gly153Arg) reduce or abolish glycerol kinase activity, leading to glycerol kinase deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for GK2.
Dominant Negative (DN)
No dominant-negative mutations reported for GK2.
View complete mutation data：
Gene Ontology (GO)
| • glycerol kinase activity (GO:0004370) | • ATP binding (GO:0005524) |
| • glycerol-3-phosphate metabolic process (GO:0006072) | • glycerol catabolic process (GO:0019563) |
| • cytoplasm (GO:0005737) |
Pathways
• Glycerolipid metabolism (Reactome: R-HSA-8978868)
• Glycerol phosphate shuttle (KEGG: map00561)
Protein Summary
The GK2 protein (UniProt Q14410) is a 559-amino acid enzyme that catalyzes the ATP-dependent phosphorylation of glycerol to sn-glycerol-3-phosphate. It is localized in the cytoplasm and is highly expressed in the testis, where it supports energy metabolism for spermatogenesis. Defects in GK2 cause glycerol kinase deficiency, a metabolic disorder characterized by elevated glycerol levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SGK2 Knockout HEK293 Cell Line | EDJ-KQ867 | Human | 10110 | Details Get a Quote |
| PGK2 Knockout HEK293 Cell Line | EDJ-KQ1516 | Human | 5232 | Details Get a Quote |
| GK2 Knockout HEK293 Cell Line | EDJ-KQ4712 | Human | 2712 | Details Get a Quote |
| SGK2 Knockout A-549 Cell Line | EDJ-KQ19676 | Human | 10110 | Details Get a Quote |
| SGK2 Knockout HCT 116 Cell Line | EDJ-KQ19677 | Human | 10110 | Details Get a Quote |
| GK2 Knockout HeLa Cell Line | EDJ-KQ53352 | Human | 2712 | Details Get a Quote |
| PGK2 Knockout HeLa Cell Line | EDJ-KQ54129 | Human | 5232 | Details Get a Quote |
| SGK2 Knockout HeLa Cell Line | EDJ-KQ55320 | Human | 10110 | Details Get a Quote |
| GK2 Knockout A-549 Cell Line | EDJ-KQ61831 | Human | 2712 | Details Get a Quote |
| PGK2 Knockout A-549 Cell Line | EDJ-KQ62618 | Human | 5232 | Details Get a Quote |
| GK2 Knockout HCT 116 Cell Line | EDJ-KQ70316 | Human | 2712 | Details Get a Quote |
| PGK2 Knockout HCT 116 Cell Line | EDJ-KQ71090 | Human | 5232 | Details Get a Quote |
Displaying Records 1 To 12 Of 12 Records
