Gene Information
|
Gene Name
|
PHKB |
|
Gene ID
|
5257
|
|
Gene Full Name
|
phosphorylase kinase regulatory subunit beta |
|
Gene Alias
|
- |
|
Transcripts
|
ENSG00000102893
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Golgi apparatus;
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins |
|
Uniport_ID
|
Q93100
|
|
HGNC ID
|
HGNC:8927
|
|
OMIM ID
|
172490 |
|
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, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, 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 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010] |
Target gene [PHKB] 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 |
| 6000859 |
chr16 |
372 |
132 |
279 |
783 |
View |
| 6004837 |
chr16 |
100 |
1 |
2 |
103 |
View |
| 6023274 |
chr16 |
3 |
1 |
0 |
4 |
View |
| 6025604 |
chr16 |
1 |
2 |
0 |
3 |
View |
Target gene [PHKB] 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 - PHKB peak across samples
|
Peak Plot
|
|
|