PGK2

Chr 6

phosphoglycerate kinase 2

Also known as: HEL-S-272, PGKB, PGKPS, dJ417L20.2

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.[provided by RefSeq, May 2010]

ResearchGenerating clinical summary…
0
Active trials
14
Pubs (1 yr)
P/LP submissions
P/LP missense
1.61
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.61LOEUF
pLI 0.000
Z-score 0.24
OE 0.91 (0.531.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.92Z-score
OE missense 1.18 (1.061.30)
257 obs / 218.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.531.61)
00.351.4
Missense OE?1.18 (1.061.30)
00.61.4
Synonymous OE?1.24
01.21.6
LoF obs/exp: 8 / 8.8Missense obs/exp: 257 / 218.7Syn Z: -1.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PGK2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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