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PHKB Gene(Protein Coding)

Phosphorylase Kinase Regulatory Subunit Beta

GCID:
GC16P047436
GIFtS:
55
Genes Participants
UDN Logo

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 Glycogen Storage Disease Ixb and Phosphorylase Kinase Deficiency. Among its related pathways are Glycosaminoglycan metabolism and Glycogen 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 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 , fRNAdb sequence ontologies and piRNA Summary for PHKB Gene

Genomics for PHKB Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PHKB Gene

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
GH16I047459 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.6 583 5 PKNOX1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 E2F8 ZNF207 ZNF143 ITFG1 PHKB ENSG00000261131 SIAH1 SHCBP1 GPT2 LONP2
GH16I047523 Enhancer 1 Ensembl ENCODE 10.5 +62.6 62596 1.2 ELF3 FOXA2 ARID4B BATF IRF4 RAD21 RARA SLC30A9 ATF7 ETV6 ITFG1 PHKB SHCBP1 ENSG00000262038 RNA5SP425
GH16I047565 Enhancer 0.8 Ensembl ENCODE 10.7 +104.5 104477 1.2 JUN ZNF592 GABPA FOSL1 JUND POLR2A GABPB1 ETV6 RUNX3 EIF4BP5 ITFG1 PHKB LOC100420642
GH16I047491 Enhancer 1.5 FANTOM5 Ensembl ENCODE 5.7 +31.9 31910 3.6 PKNOX1 FOXA2 MLX ARID4B DMAP1 IRF4 ZNF48 SLC30A9 RUNX3 ZNF263 PHKB LONP2 SHCBP1 PIR32661 ITFG1
GH16I047617 Enhancer 0.6 ENCODE 10.7 +156.8 156782 0.2 HDAC1 SOX13 MAFG CBFA2T3 TCF12 ZNF316 HDAC2 CBFA2T2 KDM1A EMSY ITFG1 PHKB PIR31968 NDUFA5P11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PHKB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PHKB gene promoter:

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)

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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

  • 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

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:
ProtoNet:

Suggested Antigen Peptide Sequences for PHKB Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

Clone Products

  • Addgene plasmids for PHKB

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 5
plasma membrane 3
mitochondrion 1
nucleus 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,IEA --
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

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 TAS,IEA 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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PHKB Gene

(7) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(291) Selected AceView cDNA sequences:
(17) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PHKB Gene

Phosphorylase kinase, beta:
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
PHKB

Expression for PHKB Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

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

Evidence on tissue expression from TISSUES for PHKB Gene

  • Liver(4.4)
  • Nervous system(2.3)
  • Muscle(2.2)

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

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 33 34
  • 99.76 (n)
dog
(Canis familiaris)
 Mammalia PHKB 33 34
  • 91.71 (n)
oppossum
(Monodelphis domestica)
 Mammalia PHKB 34
  • 91 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PHKB 34
  • 91 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia PHKB 33 34
  • 90.56 (n)
mouse
(Mus musculus)
 Mammalia Phkb 33 16 34
  • 87.2 (n)
rat
(Rattus norvegicus)
 Mammalia Phkb 33
  • 86.9 (n)
chicken
(Gallus gallus)
 Aves PHKB 33 34
  • 78.79 (n)
lizard
(Anolis carolinensis)
 Reptilia PHKB 34
  • 84 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia phkb 33
  • 74.87 (n)
Str.17057 33
zebrafish
(Danio rerio)
 Actinopterygii phkb 33 34
  • 70.82 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009278 33
  • 52.59 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG8475 35 33 34
  • 52.16 (n)
worm
(Caenorhabditis elegans)
 Secernentea Y67D8A.2 33 34
  • 51.01 (n)
Y67D8A.1 35
  • 38 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 51 (a)
 OneToMany
CSA.5300 34
  • 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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for PHKB Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs111734407 pathogenic, Glycogen storage disease IXb 47,696,408(+) T/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs111970242 uncertain-significance, likely-benign, Glycogen phosphorylase kinase deficiency, not specified 47,649,153(+) A/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs11299370 uncertain-significance, Glycogen phosphorylase kinase deficiency 47,700,349(+) AAAAAAAAAAAAAAAAAA/AAAAAAAAAAA/AAAAAAAAAAAAAAAAA 3_prime_UTR_variant, non_coding_transcript_variant
rs117536391 benign, likely-benign, not specified, Glycogen phosphorylase kinase deficiency 47,596,544(+) G/T intron_variant
rs117861728 uncertain-significance, Glycogen phosphorylase kinase deficiency 47,700,007(+) C/A 3_prime_UTR_variant, non_coding_transcript_variant

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 Assay Products

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

Disorders for PHKB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glycogen storage disease ixb
  • gsd9b
phosphorylase kinase deficiency
  • glycogen storage disease type ix
glycogen storage disease
  • glycogenoses
- 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.

Additional Disease Information for PHKB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 44 58
  2. 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 22 58
  3. 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 44 58
  4. Glycogen storage disease type IX: High variability in clinical phenotype. (PMID: 17689125) Beauchamp NJ … Sharrard M (Molecular genetics and metabolism 2007) 3 22 58
  5. 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 58

Products for PHKB Gene

  • Addgene plasmids for PHKB

Sources for PHKB Gene

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