Phosphoglycerate Kinase 2

Alternative Names

  • PGK2
  • Phosphoglycerate Kinase of Spermatozoa
  • PGKB
  • PGK, Testicular

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

172270

NCBI Gene ID

5232

Uniprot ID

P07205

Length

1,626 bases

No. of Exons

1

No. of isoforms

1

Protein Name

Phosphoglycerate kinase 2

Molecular Mass

44796 Da

Amino Acid Count

417

Genomic Location

chr6:49,785,660-49,787,285

Gene Map Locus
6p12.3

Description

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 catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_138733.5:c.1112T>CSaudi ArabiaNC_000006.12:g.49786076A>GLikely PathogenicSpermatogenic Failure 1NM_138733.5:c.1112T>C; NP_620061.2:p.Ile371Thr2127459864
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