Gene Information
|
Gene Name
|
PHKA2 |
|
Gene ID
|
5256
|
|
Gene Full Name
|
phosphorylase kinase regulatory subunit alpha 2 |
|
Gene Alias
|
GSD9A|PHK|PYK|PYKL|XLG|XLG2 |
|
Transcripts
|
ENSG00000044446
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Nucleoplasm; 
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins |
|
Uniport_ID
|
P46019
|
|
HGNC ID
|
HGNC:8926
|
|
OMIM ID
|
300798 |
|
Summary
|
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] |
Target gene [PHKA2] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6005627 |
chrX |
47 |
19 |
16 |
82 |
View |
| 6009388 |
chrX |
25 |
12 |
0 |
37 |
View |
| 6016240 |
chrX |
12 |
0 |
0 |
12 |
View |
| 6020680 |
chrX |
6 |
0 |
0 |
6 |
View |
| 6020682 |
chrX |
6 |
0 |
0 |
6 |
View |
| 6020691 |
chrX |
6 |
0 |
0 |
6 |
View |
| 6033383 |
chrX |
0 |
0 |
0 |
0 |
View |
Target gene [PHKA2] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE19080
|
Expression array |
38 |
Homo sapiens 3K Immunoarray2 HTLV-1 JH |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE224047
|
RNA-seq |
10 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - PHKA2 peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
