PHKB Gene (Protein Coding)

Phosphorylase Kinase Regulatory Subunit Beta

GC16P047436
GIFtS:
46
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

  • Phosphorylase Kinase Regulatory Subunit Beta 2 3 5
  • Phosphorylase B Kinase Regulatory Subunit Beta 3 4
  • Phosphorylase Kinase Subunit Beta 3 4
  • Phosphorylase Kinase, Beta 2 3
  • Phosphorylase Kinase Beta-Subunit 3
  • PHKB 5

External Ids for PHKB Gene

Previous GeneCards Identifiers for PHKB Gene

  • GC16P037905
  • GC16P047235
  • GC16P047276
  • GC16P046052
  • GC16P033385

Summaries for PHKB Gene

Entrez Gene Summary 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 Activation of cAMP-Dependent PKA and Glycosaminoglycan metabolism. 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.

Gene Wiki entry for PHKB Gene

Additional gene information for PHKB Gene

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

Download GeneHancer 2017 data
Promoters and enhancers for PHKB Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16J047460 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.6 583 5 TBP SP1 MXD4 MNT IKZF1 SMAD5 ETS1 MBD2 POLR2A ELF1 HSALNG0111197 ITFG1 PHKB ENSG00000261131 SIAH1 SHCBP1 GPT2 LONP2 lnc-NETO2-4
GH16J047459 Promoter/Enhancer 0.6 EPDnew dbSUPER 250.7 -1.9 -1928 0.1 DACH1 ITFG1 PHKB hsa-miR-5095-195 lnc-NETO2-4 NETO2
GH16J047523 Enhancer 1 Ensembl ENCODE 10.5 +62.7 62677 1.6 MXD4 HOMEZ THAP11 FOXA2 ZNF511 IRF4 SMAD4 MAFF SAP130 ETV4 ITFG1 PHKB SHCBP1 ENSG00000262038 RNA5SP425 ABCC12
GH16J047565 Enhancer 0.8 Ensembl ENCODE 10.8 +104.6 104578 7.4 GABPA FOXA2 FOSL1 SPI1 POLR2A JUND ZNF584 GABPB1 ATF3 EED EIF4BP5 ITFG1 PHKB GPT2 ENSG00000259866 LOC100420642 lnc-ITFG1-1 ABCC12
GH16J047617 Enhancer 0.8 Ensembl ENCODE 10.7 +157.3 157278 1.6 MAFF ZNF316 SPI1 HDAC2 MAFK TCF12 MAFG KDM1A CBFA2T2 SOX13 lnc-ITFG1-3 lnc-LONP2-12 ITFG1 PHKB ABCC12
- 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

Latest Assembly
chr16:47,461,123-47,701,523
(GRCh38/hg38)
Size:
240,401 bases
Orientation:
Plus strand

Previous Assembly
chr16:47,495,210-47,735,434
(GRCh37/hg19 by Entrez Gene)
Size:
240,225 bases
Orientation:
Plus strand

chr16:47,495,034-47,735,434
(GRCh37/hg19 by Ensembl)
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:
PHKB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHKB Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PHKB Gene

Proteins for PHKB Gene

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  • Protein details for PHKB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93100-KPBB_HUMAN
    Recommended name:
    Phosphorylase b kinase regulatory subunit beta
    Protein Accession:
    Q93100
    Secondary Accessions:
    • 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.

    Alternative splice isoforms for PHKB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHKB Gene

Protein Expression for PHKB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

ENSEMBL proteins:
REFSEQ proteins:

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

UniProtKB/Swiss-Prot:

KPBB_HUMAN :
  • Belongs to the phosphorylase b kinase regulatory chain family.
Family:
  • Belongs to the phosphorylase b kinase regulatory chain family.
genes like me logo Genes that share domains with PHKB: view

Function for PHKB Gene

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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function for PHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 21418524
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with PHKB: view
genes like me logo Genes that share phenotypes with PHKB: view

Human Phenotype Ontology for PHKB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHKB gene
Compartment Confidence
cytosol 4
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0005964 phosphorylase kinase complex IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PHKB: view

Pathways & Interactions for PHKB Gene

genes like me logo Genes that share pathways with PHKB: view

Pathways by source for PHKB Gene

1 BioSystems pathway 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.

Gene Ontology (GO) - Biological Process for PHKB Gene

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 IEA --
genes like me logo Genes that share ontologies with PHKB: view

No data available for SIGNOR curated interactions for PHKB Gene

Drugs & Compounds for PHKB Gene

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(1) Additional Compounds for PHKB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PHKB: view

Transcripts for PHKB Gene

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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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHKB

Alternative Splicing Database (ASD) splice patterns (SP) for PHKB Gene

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

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PHKB Gene

mRNA expression in normal human tissues for PHKB Gene
mRNA expression by GTEx for PHKB GenemRNA expression by BioGPS for PHKB Gene

mRNA differential expression in normal tissues according to GTEx for PHKB Gene

This gene is overexpressed in Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for PHKB Gene

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



Protein tissue co-expression partners 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.78060

Evidence on tissue expression from TISSUES for PHKB Gene

  • Liver(4.5)
  • Nervous system(2.8)
  • Muscle(2.5)
  • Kidney(2.4)

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
genes like me logo Genes that share expression patterns with PHKB: view

Primer products for research

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.

Orthologs for PHKB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PHKB 30 31
  • 99.76 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PHKB 30 31
  • 91.71 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PHKB 31
  • 91 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PHKB 31
  • 91 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PHKB 30 31
  • 90.56 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Phkb 30 17 31
  • 87.2 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Phkb 30
  • 86.9 (n)
Chicken
(Gallus gallus)
 Aves PHKB 30 31
  • 78.79 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PHKB 31
  • 84 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia phkb 30
  • 74.87 (n)
Str.17057 30
Zebrafish
(Danio rerio)
 Actinopterygii phkb 30 31
  • 70.82 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009278 30
  • 52.59 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG8475 30 31 32
  • 52.16 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea Y67D8A.2 30 31
  • 51.01 (n)
 OneToOne
Y67D8A.1 32
  • 38 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 51 (a)
 OneToMany
CSA.5300 31
  • 42 (a)
 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

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

genes like me logo Genes that share paralogs with PHKB: view

Variants for PHKB Gene

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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
838928 Uncertain Significance: Glycogen storage disease IXb 47,593,551(+) A/G
NM_000293.3(PHKB):c.1120A>G (p.Ile374Val) 		MISSENSE
839029 Uncertain Significance: Glycogen storage disease IXb 47,696,480(+) G/A
NM_000293.3(PHKB):c.2995G>A (p.Val999Ile) 		MISSENSE
845451 Uncertain Significance: Glycogen storage disease IXb 47,515,537(+) T/C
NM_000293.3(PHKB):c.530T>C (p.Leu177Pro) 		MISSENSE
845730 Uncertain Significance: Glycogen storage disease IXb 47,660,818(+) A/G
NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser) 		MISSENSE
862662 Uncertain Significance: Glycogen storage disease IXb 47,589,088(+) C/G
NM_000293.3(PHKB):c.1054C>G (p.Pro352Ala) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PHKB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PHKB Gene

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

Variation tolerance for PHKB Gene

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

Human Gene Mutation Database (HGMD)
PHKB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHKB

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHKB Gene

Disorders for PHKB Gene

MalaCards: The human disease database

(7) MalaCards diseases for PHKB Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
glycogen storage disease ixb
  • gsd9b
phosphorylase kinase deficiency
  • glycogen storage disease type ix
glycogen storage disease
  • glycogenoses
glycogen storage disease, type ixd
  • gsd9d
glycogen storage disease ix
  • glycogen storage disease type 9
- elite association - COSMIC cancer census association via MalaCards
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 variants affecting the gene represented in this entry.

Additional Disease Information for PHKB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PHKB: view

No data available for Genatlas for PHKB Gene

Publications for PHKB Gene

  1. 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
  2. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). (PMID: 9215682) Burwinkel B … Kilimann MW (Human molecular genetics 1997) 3 23 74
  3. 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
  4. 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
  5. Glycogen storage disease type IX: High variability in clinical phenotype. (PMID: 17689125) Beauchamp NJ … Sharrard M (Molecular genetics and metabolism 2007) 3 23

ExternalLinks

View latest publications for PHKB gene in Mastermind

Products for PHKB Gene

  • Addgene plasmids for PHKB

Sources for PHKB Gene