Identity
HGNC
LOCATION
Xp22.13
LOCUSID
ALIAS
GSD9A,PHK,PYK,PYKL,XLG,XLG2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5256
MIM: 300798
HGNC: 8926
Ensembl: ENSG00000044446
Variants:
dbSNP: 5256
ClinVar: 5256
TCGA: ENSG00000044446
COSMIC: PHKA2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000044446 | ENST00000379942 | P46019 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34117828 | 2021 | PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only. | 3 |
| 34117828 | 2021 | PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only. | 3 |
| 32387637 | 2020 | A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature. | 2 |
| 33317799 | 2020 | Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX. | 13 |
| 32387637 | 2020 | A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature. | 2 |
| 33317799 | 2020 | Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX. | 13 |
| 30925902 | 2019 | A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review. | 7 |
| 30925902 | 2019 | A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review. | 7 |
| 28627441 | 2017 | Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa. | 10 |
| 28627441 | 2017 | Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa. | 10 |
| 27103379 | 2016 | PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. | 12 |
| 27103379 | 2016 | PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. | 12 |
| 21857251 | 2012 | Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis. | 14 |
| 21857251 | 2012 | Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis. | 14 |
| 21131218 | 2011 | Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China. | 7 |
Citation
Dessen P
PHKA2 (phosphorylase kinase regulatory subunit alpha 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/41705/phka2
