PHKG2

Chr 16p11.2

phosphorylase kinase catalytic subunit gamma 2

MANE:: ENST00000563588.6

OMIM: 172471 ↗NCBI: 5261 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PHKG2 · P15735

v62025-08-01

Predicted Aligned Error matrix for PHKG2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.3/ 100

Confident

406 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)20%
Low(50–70)10%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Glycogen storage disease
BIALLELIC, autosomal or pseudoautosomal
Ketotic hypoglycaemia
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Intellectual disability

Disease associations (Open Targets)

glycogen storage disease IXc
0.74
glycogen storage disease due to liver phosphorylase kinase deficiency
0.66
disorder of glycogen metabolism
0.51
Glycogen storage disease due to glycogenin deficiency
0.51
Glycogen storage disease due to phosphorylase kinase deficiency
0.48
hereditary disease
0.47
Parkinson disease
0.36
neurodegenerative disease
0.36
Alzheimer disease
0.36
lysosomal storage disease
0.36

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phosphorylase b kinase gamma catalytic chain, liver/testis isoform

Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (PubMed:35549678)