PHKA2 (phosphorylase kinase regulatory subunit alpha 2)

2003-11-01  

Identity

HGNC
PHKA2
LOCATION
Xp22.13
LOCUSID
5256
ALIAS
GSD9A,PHK,PYK,PYKL,XLG,XLG2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5256
MIM: 300798
HGNC: 8926
Ensembl: ENSG00000044446

Variants:

dbSNP: 5256
ClinVar: 5256
TCGA: ENSG00000044446
COSMIC: PHKA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000044446ENST00000379942P46019

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Insulin signaling pathwayKEGGko04910
Calcium signaling pathwayKEGGhsa04020
Insulin signaling pathwayKEGGhsa04910
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen breakdown (glycogenolysis)REACTOMER-HSA-70221

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
128763302003Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase.10
218572512012Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.7
1895070820083D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.6
128623112003Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency.5
211312182011Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.5
219113072011Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.4
271033792016PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.3
286274412017Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.2
175817682007Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency).1
309259022019A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.0

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