PGK2: Phosphoglycerate Kinase 2
Testis-specific glycolytic enzyme involved in spermatogenesis and male fertility
Gene Information Card
| Symbol | PGK2 |
|---|---|
| Full Name | Phosphoglycerate Kinase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p12.3 |
| NCBI Gene ID | 5232 ncbi.nlm.nih.gov/gene/5232 |
| Ensembl ID | ENSG00000112237 |
| UniProt ID | P07205 |
| OMIM ID | 172270 |
| HGNC ID | 8898 |
| Aliases | PGK-B, PGKB, dJ342J23.1 |
Description
PGK2 (Phosphoglycerate Kinase 2) is a testis-specific isoform of phosphoglycerate kinase, a key glycolytic enzyme that catalyzes the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, generating ATP. Unlike the ubiquitously expressed PGK1, PGK2 is predominantly expressed in the testis and plays a critical role in sperm energy metabolism and male fertility. The gene is located on chromosome 6p12.3 and is intronless, suggesting it originated from a retrotransposition event.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Deficiency of PGK2 disrupts ATP production in sperm, impairing motility and capacitation. | ClinVar; PMID: 28492532 |
| Non-obstructive azoospermia | Loss-of-function variants reduce glycolytic flux in testicular germ cells. | OMIM #172270; PMID: 31006511 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 42.3 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Ovary | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | 35.1 | Primary spermatocytes |
| Spermatids | 28.7 | Round and elongating spermatids |
| Spermatozoa | 15.4 | Mature sperm |
| HeLa | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | Rare | Loss of start codon, no protein produced |
| c.364G>A (p.Gly122Arg) | Missense | 0.01% | Reduced enzyme activity |
| c.491A>G (p.Asn164Ser) | Missense | 0.005% | Impaired ATP binding |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start codon loss, catalytic site variants) reduce or abolish PGK2 enzymatic activity, leading to impaired sperm glycolysis and male infertility.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PGK2.
Dominant Negative (DN)
No dominant-negative effects have been described for PGK2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• Metabolic pathways (KEGG: hsa01100)
• Carbon metabolism (KEGG: hsa01200)
Protein Summary
PGK2 is a 417-amino acid protein (molecular weight ~45 kDa) that functions as a monomeric enzyme in the glycolytic pathway. It is structurally similar to PGK1 but is encoded by an intronless gene and expressed exclusively in the testis. The protein localizes to the cytoplasm and is essential for ATP generation in sperm, supporting motility and capacitation. PGK2 deficiency is associated with male infertility due to impaired sperm energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGK2 Knockout HEK293 Cell Line | EDJ-KQ1516 | Human | 5232 | Details Get a Quote |
| PGK2 Knockout HeLa Cell Line | EDJ-KQ54129 | Human | 5232 | Details Get a Quote |
| PGK2 Knockout A-549 Cell Line | EDJ-KQ62618 | Human | 5232 | Details Get a Quote |
| PGK2 Knockout HCT 116 Cell Line | EDJ-KQ71090 | Human | 5232 | Details Get a Quote |
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