Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: PHKA2 (phosphorylase kinase regulatory subunit alpha 2) Homo sapiens
Analyze
Symbol: PHKA2
Name: phosphorylase kinase regulatory subunit alpha 2
Description: Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GSD9A; MGC133071; PHK; phosphorylase b kinase regulatory subunit alpha liver isoform; phosphorylase b kinase regulatory subunit alpha, liver isoform; phosphorylase kinase alpha L subunit; phosphorylase kinase alpha-subunit; phosphorylase kinase, alpha 2 (liver); PYK; PYKL; XLG; XLG2
Orthologs:
Mus musculus (house mouse) : Phka2 (phosphorylase kinase alpha 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Phka2 (phosphorylase kinase regulatory subunit alpha 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Phka2 (phosphorylase kinase regulatory subunit alpha 2)
Pan paniscus (bonobo/pygmy chimpanzee) : PHKA2 (phosphorylase kinase regulatory subunit alpha 2)
Canis lupus familiaris (dog) : PHKA2 (phosphorylase kinase regulatory subunit alpha 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Phka2 (phosphorylase kinase regulatory subunit alpha 2)
Sus scrofa (pig) : PHKA2 (phosphorylase kinase regulatory subunit alpha 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X18,892,298 - 18,984,362 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X18,910,416 - 19,002,480 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X18,820,793 - 18,912,097 (-)NCBINCBI36hg18NCBI36
Build 34X18,670,535 - 18,761,833NCBI
CeleraX23,030,465 - 23,122,476 (-)NCBI
Cytogenetic MapXp22.13NCBI
HuRefX16,663,307 - 16,754,925 (-)NCBIHuRef
CHM1_1X18,941,491 - 19,033,554 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on PHKA2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1344785
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.