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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 a... See more...
Aliases for PHKB Gene
Aliases for PHKB Gene
External Ids for PHKB Gene
- HGNC: 8927
- Entrez Gene: 5257
- Ensembl: ENSG00000102893
- OMIM: 172490
- UniProtKB: Q93100
Previous GeneCards Identifiers for PHKB Gene
- GC16P037905
- GC16P047235
- GC16P047276
- GC16P046052
- GC16P033385
Summaries for PHKB Gene
-
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]
GeneCards Summary for PHKB Gene
PHKB (Phosphorylase Kinase Regulatory Subunit Beta) is a Protein Coding gene. Diseases associated with PHKB include Glycogen Storage Disease Ixb and Phosphorylase Kinase Deficiency. Among its related pathways are Signal transduction_PKA signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include calmodulin binding and phosphorylase kinase activity. An important paralog of this gene is PHKA2.
UniProtKB/Swiss-Prot Summary for PHKB Gene
-
Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
Additional gene information for PHKB Gene
- HGNC(8927)
- Entrez Gene(5257)
- Ensembl(ENSG00000102893)
- OMIM(172490)
- UniProtKB(Q93100)
- Open Targets Platform(ENSG00000102893)
- Monarch Initiative
- Search for PHKB at DataMed
- Search for PHKB at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHKB Gene
Genomics for PHKB Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PHKB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PHKB on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHKB
- Top Transcription factor binding sites by QIAGEN in the PHKB gene promoter:
-
- AML1a
- CREB
- deltaCREB
- FOXO3
- FOXO3a
- FOXO3b
- GATA-1
- NRF-2
- Sox5
- Zic1
Genomic Locations for PHKB Gene
Genomic Locations for PHKB Gene
- chr16:47,461,123-47,701,523
- (GRCh38/hg38)
- Size:
- 240,401 bases
- Orientation:
- Plus strand
- chr16:47,495,034-47,735,434
- (GRCh37/hg19)
- Size:
- 240,401 bases
- Orientation:
- Plus strand
Genomic View for PHKB Gene
Genes around PHKB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q12.1 by HGNC
- 16q12.1 by Entrez Gene
- 16q12.1 by Ensembl
PHKB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PHKB Gene
Proteins for PHKB Gene
-
Protein details for PHKB Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q93100-KPBB_HUMAN
- Recommended name:
- Phosphorylase b kinase regulatory subunit beta
- Protein Accession:
- Q93100
- Q8N4T5
Protein attributes for PHKB Gene
- Size:
- 1093 amino acids
- Molecular mass:
- 124884 Da
- Quaternary structure:
-
- Hexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.
Protein Expression for PHKB Gene
Post-translational modifications for PHKB Gene
- Ser-701 is probably phosphorylated by PKA.
- Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for PHKB Gene
Antibody Products
- G Biosciences Immunotag™ PHKB Antibody
- Creative Diagnostics Anti-Phosphorylase B (native) polyclonal antibody
- Creative Biolabs Recombinant Mouse anti-Human PHKB Monoclonal antibody (EML639)
-
Custom Antibody ServicesOriGene Antibodies for PHKB
- Novus Biologicals Antibodies for PHKB
-
Abcam antibodies for PHKB
- Invitrogen Antibodies for PHKB (AFLGC-PHKB)
Protein Products
-
OriGene Purified Proteins for PHKB
- Search Origene for MassSpec and Protein Over-expression Lysates for PHKB
- Origene Custom Protein Services for PHKB
-
Signalway Proteins for PHKB
-
Abcam proteins for PHKB
Assay Products
- antibodies-online: Search results for available PHKB related products ranked by validation data
-
Boster Bio ELISA Kits for PHKB
No data available for DME Specific Peptides for PHKB Gene
Domains & Families for PHKB Gene
Gene Families for PHKB Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for PHKB Gene
- InterPro:
- Blocks:
-
- Phosphorylase kinase alphabeta
- ProtoNet:
Suggested Antigen Peptide Sequences for PHKB Gene
- GenScript: Design optimal peptide antigens:
-
- Phosphorylase b kinase regulatory subunit beta (KPBB_HUMAN)
- Phosphorylase kinase beta-subunit (Q6LAJ4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q93100- Family:
-
- Belongs to the phosphorylase b kinase regulatory chain family.
Function for PHKB Gene
Molecular function for PHKB Gene
- UniProtKB/Swiss-Prot Function:
- Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- By phosphorylation of various serine residues.
- GENATLAS Biochemistry:
- phosphorylase kinase,beta subunit,ubiquitous,glycogen catabolism
Phenotypes From GWAS Catalog for PHKB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004689 | phosphorylase kinase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 21418524 |
| GO:0005516 | calmodulin binding | IEA | -- |
Phenotypes for PHKB Gene
- MGI mutant phenotypes for PHKB:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PHKB:
-
- no effect
- shRNA abundance <= 50%
- Increased shRNA abundance (Z-score > 2)
- Increased NF-kappaB reporter expression
- Decreased viability
- Increased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased shRNA abundance (Z-score < -2)
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PHKB - Select products 50% OFF >
- * PHKB CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PHKB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PHKB
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHKB
miRNA for PHKB Gene
- miRTarBase miRNAs that target PHKB
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PHKB
- Browse OriGene Inhibitory RNA Products For PHKB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHKB
Clone Products
- Applied Biological Materials (abm): Clones for PHKB - Select products 50% OFF >
- * PHKB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PHKB
- Addgene plasmids for PHKB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PHKB
Cell Line Products
-
Horizon Cell Lines for PHKB
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PHKB Gene
Localization for PHKB Gene
Subcellular locations from UniProtKB/Swiss-Prot for PHKB Gene
- Cell membrane. Lipid-anchor. Cytoplasmic side.
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| plasma membrane | 3 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005964 | phosphorylase kinase complex | IEA,IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for PHKB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
| 2 | Glucose metabolism | ||
| 3 | Calcium signaling pathway | ||
| 4 | Glucagon signaling pathway | ||
| 5 | Regulation of lipid metabolism Insulin signaling-generic cascades | ||
Pathways by source for PHKB Gene
1 BioSystems pathway for PHKB Gene
4 Reactome pathways for PHKB Gene
3 KEGG pathways for PHKB Gene
1 GeneGo (Thomson Reuters) pathway for PHKB Gene
- Signal transduction_PKA signaling
4 Qiagen pathways for PHKB Gene
- Activation of cAMP-Dependent PKA
- Alpha-Adrenergic Signaling
- cAMP Pathway
- PKA Signaling
UniProtKB/Swiss-Prot Q93100-KPBB_HUMAN
- Pathway: Glycan biosynthesis; glycogen metabolism.
Interacting Proteins for PHKB Gene
Selected Interacting proteins:
Q93100-KPBB_HUMAN
ENSP00000313504
for PHKB Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PHKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0005977 | glycogen metabolic process | IEA,TAS | 9402963 |
| GO:0005980 | glycogen catabolic process | TAS | -- |
| GO:0006091 | generation of precursor metabolites and energy | TAS | 9402963 |
| GO:0006468 | protein phosphorylation | IBA,IEA | -- |
No data available for SIGNOR curated interactions for PHKB Gene
Transcripts for PHKB Gene
mRNA/cDNA for PHKB Gene
- 3 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000299167 5464 nts (view in UCSC)
- ENST00000323584 5459 nts (view in UCSC)
- ENST00000563376 697 nts (view in UCSC)
- ENST00000564711 697 nts (view in UCSC)
- ENST00000564873 1493 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PHKB - Select products 50% OFF >
- * PHKB CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PHKB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PHKB
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHKB
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PHKB
- Browse OriGene Inhibitory RNA Products For PHKB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHKB
Clone Products
- Applied Biological Materials (abm): Clones for PHKB - Select products 50% OFF >
- * PHKB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PHKB
- Addgene plasmids for PHKB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PHKB
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - |
| ExUns: | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33a | · | 33b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||
| SP2: | - | - | |||||||||||||||||
| SP3: | |||||||||||||||||||
| SP4: |
Relevant External Links for PHKB Gene
- GeneLoc Exon Structure for
- PHKB
Expression for PHKB Gene
mRNA differential expression in normal tissues according to GTEx for PHKB Gene
This gene is overexpressed in Muscle - Skeletal (x4.6).
This gene is overexpressed in Heart (10.6), Lymph node (8.4), and Peripheral blood mononuclear cells (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PHKB Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PHKB
SOURCE GeneReport for Unigene cluster for PHKB Gene:
Hs.78060Evidence on tissue expression from TISSUES for PHKB Gene
- Liver(4.5)
- Nervous system(2.9)
- Muscle(2.6)
- Kidney(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PHKB Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- nervous
- skeletal muscle
Regions:
Abdomen:
- intestine
- large intestine
- liver
- small intestine
Primer Products
-
OriGene qPCR primer pairs for PHKB
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PHKB Gene
Orthologs for PHKB Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PHKB 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PHKB 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PHKB 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PHKB 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PHKB 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Phkb 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Phkb 30 |
|
||
| Chicken (Gallus gallus) |
Aves | PHKB 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PHKB 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | phkb 30 |
|
||
| Str.17057 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | phkb 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009278 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG8475 30 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | Y67D8A.2 30 31 |
|
OneToOne | |
| Y67D8A.1 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| CSA.5300 31 |
|
OneToMany |
- Species where no ortholog for PHKB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for PHKB Gene
- ENSEMBL:
- Gene Tree for PHKB (if available)
- TreeFam:
- Gene Tree for PHKB (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PHKB: view image
Paralogs for PHKB Gene
(1) SIMAP similar genes for PHKB Gene using alignment to 9 proteins:
- KPBB_HUMAN
- H3BQ89_HUMAN
- H3BV13_HUMAN
- I3L0Z1_HUMAN
- I3L1N3_HUMAN
- I3L213_HUMAN
- I3L3F2_HUMAN
- I3NHZ9_HUMAN
- Q6LAJ4_HUMAN
Pseudogenes.org Pseudogenes for PHKB Gene
Variants for PHKB Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHKB Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 641293 | Uncertain Significance: Glycogen storage disease IXb | 47,689,120(+) | C/T | MISSENSE_VARIANT | |
| 648261 | Uncertain Significance: Glycogen storage disease IXb | 47,698,483(+) | C/A | MISSENSE_VARIANT | |
| 649367 | Uncertain Significance: Glycogen storage disease IXb | 47,649,137(+) | C/T | MISSENSE_VARIANT | |
| 659474 | Uncertain Significance: Glycogen storage disease IXb | 47,511,695(+) | A/G | MISSENSE_VARIANT | |
| 668344 | Likely Benign: not provided | 47,698,486(+) | C/T | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv518e214 | CNV | loss | 21293372 |
| esv2758644 | CNV | gain | 17122850 |
| esv2761905 | CNV | loss | 21179565 |
| esv34317 | CNV | gain | 17911159 |
| esv3638553 | CNV | gain | 21293372 |
| esv3638556 | CNV | loss | 21293372 |
| esv3638557 | CNV | gain | 21293372 |
| esv3638561 | CNV | gain | 21293372 |
| esv3638563 | CNV | loss | 21293372 |
| esv3638564 | CNV | loss | 21293372 |
| esv3638565 | CNV | loss | 21293372 |
| esv3638566 | CNV | loss | 21293372 |
| esv3892856 | CNV | loss | 25118596 |
| nsv1056126 | CNV | gain | 25217958 |
| nsv1059367 | CNV | loss | 25217958 |
| nsv520355 | CNV | gain | 19592680 |
| nsv525976 | CNV | gain | 19592680 |
| nsv572537 | CNV | loss | 21841781 |
| nsv833217 | CNV | gain | 17160897 |
| nsv974811 | CNV | duplication | 23825009 |
| nsv974812 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
35.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.66;
72.81% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PHKB Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHKB Gene
Disorders for PHKB Gene
(7) MalaCards diseases for PHKB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glycogen storage disease ixb |
|
|
| phosphorylase kinase deficiency |
|
|
| glycogen storage disease |
|
|
| glycogen storage disease, type ixd |
|
|
| glycogen storage disease ix |
|
|
Search PHKB in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KPBB_HUMAN- Glycogen storage disease 9B (GSD9B) [MIM:261750]: A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. {ECO:0000269 PubMed:9402963}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PHKB
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for PHKB Gene
Publications for PHKB Gene
- Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). (PMID: 9402963) Burwinkel B … Kilimann MW (Human genetics 1997) 3 4 23 41
- Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB). (PMID: 8681948) Wüllrich-Schmoll A … Kilimann MW (European journal of biochemistry 1996) 3 4 23
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Glycogen storage disease type IX: High variability in clinical phenotype. (PMID: 17689125) Beauchamp NJ … Sharrard M (Molecular genetics and metabolism 2007) 3 23
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
Products for PHKB Gene
- Custom Antibody ServicesOriGene Antibodies for PHKB
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PHKB
- Search Origene for MassSpec and Protein Over-expression Lysates for PHKB
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for PHKB
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- OriGene qPCR primer pairs for PHKB
- OriGene CRISPR knockouts for PHKB
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- Browse OriGene miRNA Products For PHKB
- Sino Biological Human cDNA Clone for PHKB
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- High-throughput Antibody Production Service
- Protein Production Service
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- Lentiviral ORF Clones
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- Novus Biologicals proteins and lysates for PHKB
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- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for PHKB (AFLGC-PHKB)
- VectorBuilder Custom and pre-made DNA vectors for PHKB (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PHKB (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PHKB (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PHKB CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PHKB
- Addgene plasmids for PHKB
- antibodies-online: Show 11 available PHKB Antibodies ranked by validation data
- Compare Top PHKB Antibodies
- antibodies-online: Search results for available PHKB related products ranked by validation data
- antibodies-online: Show 4 available PHKB Proteins ranked by validation data
- Compare Top PHKB Proteins
- Horizon Cell Lines for PHKB
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PHKB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PHKB
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PHKB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHKB
- Signalway Proteins for PHKB
Sources for PHKB Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB