Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PHKB Gene

Aliases for PHKB Gene

  • Phosphorylase Kinase Regulatory Subunit Beta 2 3 5
  • Phosphorylase Kinase Subunit Beta 4
  • Phosphorylase Kinase, Beta 2

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 Phosphorylase Kinase Deficiency Of Liver And Muscle, Autosomal Recessive and Phkb-Related Phosphorylase Kinase Deficiency. Among its related pathways are Metabolism and Glycogen Metabolism. GO annotations related to this gene include calmodulin binding and phosphorylase kinase activity. An important paralog of this gene is PHKA2.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHKB Gene

Genomics for PHKB Gene

Regulatory Elements for PHKB Gene

Enhancers for PHKB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F047481 0.2 Ensembl 11.9 +20.7 20678 0.4 REST NR2F6 HOMEZ NR2F2 RARA PHKB ITFG1 PIR32661
GH16F047503 1 ENCODE 11.5 +43.3 43319 1.4 ATF1 MLX ARID4B DMAP1 ZNF48 SLC30A9 SP5 NFYC MXD4 ZHX2 PHKB ITFG1 GPT2 PIR32661
GH16F047567 1.1 Ensembl ENCODE 10.8 +107.0 107020 1.9 SPI1 ITFG1 PHKB EIF4BP5 GC16M047600
GH16F047617 1.1 ENCODE 10.7 +156.8 156782 0.2 SOX13 ZNF316 MAFG KDM1A EMSY MAFK PHKB ITFG1 NDUFA5P11 PIR31968
GH16F047564 0.9 Ensembl ENCODE 10.7 +104.7 104678 2.0 JUND ATF3 JUN EED JUNB ZNF584 GABPA ITFG1 PHKB EIF4BP5 LOC100420642
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PHKB on UCSC Golden Path with GeneCards custom track

Promoters for PHKB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000272199 477 3201 PKNOX1 ARID4B SIN3A DMAP1 YY1 KLF13 SP3 SP5 MXD4 TBX21

Genomic Location for PHKB Gene

Chromosome:
16
Start:
47,461,123 bp from pter
End:
47,701,523 bp from pter
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 StructureGene 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
    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

Post-translational modifications for PHKB Gene

  • Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated.
  • Ser-701 is probably phosphorylated by PKA.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHKB Gene

Domains & Families for PHKB Gene

Suggested Antigen Peptide Sequences for PHKB Gene

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

No data available for Gene Families for PHKB Gene

Function for PHKB Gene

Molecular function for PHKB Gene

GENATLAS Biochemistry:
phosphorylase kinase,beta subunit,ubiquitous,glycogen catabolism
UniProtKB/Swiss-Prot EnzymeRegulation:
By phosphorylation of various serine residues.
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.

Gene Ontology (GO) - Molecular Function for PHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004689 contributes_to phosphorylase kinase activity IEA,IBA --
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 Model Products

Inhibitory RNA Products

Flow Cytometry Products

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
Jensen Localization Image for PHKB Gene COMPARTMENTS Subcellular localization image for PHKB gene
Compartment Confidence
cytosol 5
plasma membrane 3
mitochondrion 1
nucleus 1

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 IEA,IBA --
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

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

(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

Unigene Clusters for PHKB Gene

Phosphorylase kinase, beta:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
PHKB

Expression for PHKB Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for PHKB Gene



Protein tissue co-expression partners for PHKB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PHKB Gene:

PHKB

SOURCE GeneReport for Unigene cluster for PHKB Gene:

Hs.78060
genes like me logo Genes that share expression patterns with PHKB: view

Primer 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.

Orthologs for PHKB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHKB 34 35
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia PHKB 34 35
  • 91.71 (n)
oppossum
(Monodelphis domestica)
Mammalia PHKB 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHKB 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PHKB 34 35
  • 90.56 (n)
mouse
(Mus musculus)
Mammalia Phkb 34 16 35
  • 87.2 (n)
rat
(Rattus norvegicus)
Mammalia Phkb 34
  • 86.9 (n)
chicken
(Gallus gallus)
Aves PHKB 34 35
  • 78.79 (n)
lizard
(Anolis carolinensis)
Reptilia PHKB 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phkb 34
  • 74.87 (n)
Str.17057 34
zebrafish
(Danio rerio)
Actinopterygii phkb 34 35
  • 70.82 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009278 34
  • 52.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8475 36 34 35
  • 52.16 (n)
worm
(Caenorhabditis elegans)
Secernentea Y67D8A.2 34 35
  • 51.01 (n)
Y67D8A.1 36
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
CSA.5300 35
  • 42 (a)
OneToMany
Species where no ortholog for PHKB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for PHKB Gene

Paralogs for PHKB Gene

(1) SIMAP similar genes for PHKB Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for PHKB Gene

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

Variants for PHKB Gene

Sequence variations from dbSNP and Humsavar for PHKB Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121918022 Glycogen storage disease 9B (GSD9B) [MIM:261750], Pathogenic 47,503,037(+) ACTCA(C/G)CTATA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs150902092 A breast cancer sample 47,669,416(+) GAATC(A/G)GGTGA nc-transcript-variant, reference, missense
VAR_036486 A breast cancer sample
rs111734407 Pathogenic 47,696,408(+) CCATG(A/C/T)ATGAG nc-transcript-variant, reference, missense
rs121918021 Pathogenic 47,596,425(+) GAATA(A/T)GAAAA nc-transcript-variant, reference, stop-gained, utr-variant-5-prime

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)

Relevant External Links for PHKB Gene

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

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

Disorders for PHKB Gene

MalaCards: The human disease database

(5) MalaCards diseases for PHKB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
phosphorylase kinase deficiency of liver and muscle, autosomal recessive
  • glycogen storage disease ixb
phkb-related phosphorylase kinase deficiency
  • glycogen storage disease ixb
phosphorylase kinase deficiency
  • glycogen storage disease type ix
glycogen storage disease
  • glycogenoses
muscle glycogenosis
  • glycogen storage disease, type ixd
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for PHKB

Genetic Association Database (GAD)
PHKB
Human Genome Epidemiology (HuGE) Navigator
PHKB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHKB
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 M.W. (Hum. Genet. 1997) 3 4 22 46 64
  2. Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB). (PMID: 8681948) Wuellrich-Schmoll A. … Kilimann M.W. (Eur. J. Biochem. 1996) 3 4 22 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Glycogen storage disease type IX: High variability in clinical phenotype. (PMID: 17689125) Beauchamp N.J. … Sharrard M. (Mol. Genet. Metab. 2007) 3 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PHKB Gene

Sources for PHKB Gene

Content
Loading form....