PGK2 (phosphoglycerate kinase 2)

Gene

• Entrez ID: 5232
• Gene name: Phosphoglycerate kinase 2
• Gene symbol: PGK2
• Synonyms (NCBI Gene): HEL-S-272, PGKB, PGKPS, dJ417L20.2
• Chromosome: 6
• Chromosome location: 6p12.3
• Summary: This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catal

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1227513	hsa-miR-105	CLIP-seq
MIRT1227514	hsa-miR-146a	CLIP-seq
MIRT1227515	hsa-miR-146b-5p	CLIP-seq
MIRT1227516	hsa-miR-3671	CLIP-seq
MIRT1227517	hsa-miR-4670-3p	CLIP-seq
MIRT1227518	hsa-miR-589	CLIP-seq
MIRT1227519	hsa-miR-607	CLIP-seq
MIRT2592165	hsa-miR-1200	CLIP-seq
MIRT2592166	hsa-miR-370	CLIP-seq
MIRT2592165	hsa-miR-1200	CLIP-seq
MIRT2592166	hsa-miR-370	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004618	Function	Phosphoglycerate kinase activity	EXP	1278465, 5009693
GO:0004618	Function	Phosphoglycerate kinase activity	IBA
GO:0004618	Function	Phosphoglycerate kinase activity	IEA
GO:0004618	Function	Phosphoglycerate kinase activity	ISS
GO:0004618	Function	Phosphoglycerate kinase activity	NAS	3453121
GO:0005515	Function	Protein binding	IPI	28514442, 33961781, 35271311
GO:0005524	Function	ATP binding	IBA
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005929	Component	Cilium	IEA
GO:0006094	Process	Gluconeogenesis	IBA
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006096	Process	Glycolytic process	IBA
GO:0006096	Process	Glycolytic process	IEA
GO:0006096	Process	Glycolytic process	IEA
GO:0006096	Process	Glycolytic process	NAS	3453121
GO:0016301	Function	Kinase activity	IEA
GO:0016310	Process	Phosphorylation	NAS	3453121
GO:0016740	Function	Transferase activity	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0035686	Component	Sperm fibrous sheath	IBA
GO:0035686	Component	Sperm fibrous sheath	IEA
GO:0043531	Function	ADP binding	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0061621	Process	Canonical glycolysis	IEA
GO:0061621	Process	Canonical glycolysis	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 172270
• HGNC: 8898
• e!Ensembl: ENSG00000170950

Protein

• UniProt ID: P07205
• Protein name: Phosphoglycerate kinase 2 (EC 2.7.2.3) (Phosphoglycerate kinase, testis specific)
• Protein function: Essential for sperm motility and male fertility (PubMed:26677959). Not required for the completion of spermatogenesis (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00162	PGK	9 → 406	Phosphoglycerate kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Mainly found in round spermatids. Localized on the principle piece in the sperm (at protein level). Testis-specific. Expression significantly decreased in the testis of elderly men. {ECO:0000269|PubMed:26677959}.
• Sequence:

  MSLSKKLTLDKLDVRGKRVIMRVDFNVPMKKNQITNNQRIKASIPSIKYCLDNGAKAVVL
  MSHLGRPDGVPMPDKYSLAPVAVELKSLLGKDVLFLKDCVGAEVEKACANPAPGSVILLE
  NLRFHVEEEGKGQDPSGKKIKAEPDKIEAFRASLSKLGDVYVNDAFGTAHRAHSSMVGVN
  LPHKASGFLMKKELDYFAKALENPVRPFLAILGGAKVADKIQLIKNMLDKVNEMIIGGGM
  AYTFLKVLNNMEIGASLFDEEGAKIVKDIMAKAQKNGVRITFPVDFVTGDKFDENAQVGK
  ATVASGISPGWMGLDCGPESNKNHAQVVAQARLIVWNGPLGVFEWDAFAKGTKALMDEIV
  KATSKGCITVIGGGDTATCCAKWNTEDKVSHVSTGGGASLELLEGKILPGVEALSNM

• Sequence length: 417

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
HIF-1 signaling pathway

Reactome:

Glycolysis
Gluconeogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Asthenozoospermia	Associate	30544396	★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Associate	10856465	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	39509399	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	39509399	★☆☆☆☆ Found in Text Mining only