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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PHKB Gene

protein-coding GIFtS: 63
GCID: GC16P047436

phosphorylase kinase, beta

Explore 8 diseases affiliated with
PHKB via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Phosphorylase Kinase, Beta¹ ²
Phosphorylase Kinase Subunit Beta² ³
Phosphorylase B Kinase Regulatory Subunit Beta²
Phosphorylase Kinase Beta-Subunit²

External Ids:	HGNC: 8927¹	Entrez Gene: 5257²	Ensembl: ENSG00000102893⁷	OMIM: 172490⁵	UniProtKB: Q93100³

Export aliases for PHKB gene to outside databases

Previous GC identifers: GC16P037905 GC16P047235 GC16P047276 GC16P046052 GC16P033385

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PHKB:

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)

UniProtKB/Swiss-Prot: KPBB_HUMAN, Q93100

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 Wiki entry for PHKB

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010498.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PHKB gene promoter:
Sox5 AML1a FOXO3 FOXO3b GATA-1 CREB NRF-2 deltaCREB Zic1 FOXO3a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PHKB promoter sequence

Search SABiosciences Chromatin IP Primers for PHKB

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHKB

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q12-q13 Ensembl cytogenetic band: 16q12.1 HGNC cytogenetic band: 16q12-q13

PHKB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHKB gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P047436: view genomic region (about GC identifiers)

Start:	47,495,034 bp from pter	End:	47,735,434 bp from pter
Size:	240,401 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KPBB_HUMAN, Q93100 (See protein sequence)

Recommended Name: Phosphorylase b kinase regulatory subunit beta

Size: 1093 amino acids; 124884 Da

Subunit: 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

Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)

Secondary accessions: Q8N4T5

Alternative splicing: 4 isoforms: Q93100-1 Q93100-2 Q93100-3 Q93100-4 (Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a phosphoserine at position 4)

Explore the universe of human proteins at neXtProt for PHKB: NX_Q93100

Post-translational modifications:

Ser-701 is probably phosphorylated by PKA¹

Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not

methylated (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q93100

PHKB Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000284.1 NP_001027005.1

ENSEMBL proteins:

ENSP00000455664 ENSP00000456729 ENSP00000299167 ENSP00000313504 ENSP00000457905

ENSP00000458581 ENSP00000460408 ENSP00000461770 ENSP00000458446 ENSP00000459287

ENSP00000458961 ENSP00000414345

Reactome Protein details: Q93100
Human Recombinant Protein Products:

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	GenScript Custom Purified and Recombinant Proteins Services for PHKB
	Novus Biologicals PHKB Protein Novus Biologicals PHKB Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	IEA	--
GO:0005964	phosphorylase kinase complex	--	--

PHKB for ontologies About GeneDecksing

PHKB Antibody Products:

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Assay Products for PHKB:

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PHKB for domains About GeneDecksing

3 InterPro domains/families:

IPR008734 PHK_A/B_su

IPR011613 Glyco_hydro_15

IPR008928 6-hairpin_glycosidase-like

Graphical View of Domain Structure for InterPro Entry Q93100

ProtoNet protein and cluster: Q93100

1 Blocks protein family: IPB008734 Phosphorylase kinase alphabeta

UniProtKB/Swiss-Prot: KPBB_HUMAN, Q93100

Similarity: Belongs to the phosphorylase b kinase regulatory chain family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: KPBB_HUMAN, Q93100

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

Enzyme regulation: By phosphorylation of various serine residues (By similarity)

Genatlas biochemistry entry for PHKB:

phosphorylase kinase,beta subunit,ubiquitous,glycogen catabolism

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PHKB Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHKB
		8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate PHKB (see all 21):
		hsa-miR-411* hsa-miR-1178 hsa-miR-579 hsa-miR-448 hsa-miR-379* hsa-miR-3161 hsa-miR-1276 hsa-miR-548x

		SwitchGear 3'UTR luciferase reporter plasmid: PHKB 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PHKB (see all 7) OriGene shRNA RFP: PHKB OriGene siRNA: PHKB
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PHKB

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PHKB
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKB

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	--
GO:0004689	phosphorylase kinase activity	--	--
GO:0005516	calmodulin binding	IEA	--

PHKB for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for PHKB:

Upregulation of Wnt/beta-caten

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			PKA Signaling	0.56
	cAMP Pathway	0.77

Glycogen breakdown (glycogenolysis)

Glycogen breakdown (glycogenolysis)

1.00

Glycogen Metabolism

0.35

G Protein Signaling Pathways

Signal transduction PKA signaling

0.23

Signal transduction_PKA signaling

0.23

Glucose metabolism

Glucose metabolism

1.00

Metabolism

Metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for PHKB

Signal transduction PKA signaling

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PHKB

	PKA Signaling
	cAMP Pathway
	Activation of cAMP-Dependent PKA
	Alpha-Adrenergic Signaling

1 GeneGo (Thomson Reuters) Pathway for PHKB

Signal transduction PKA signaling

1 BioSystems Pathway for PHKB

Glycogen Metabolism

4 Reactome Pathways for PHKB

	Metabolism of carbohydrates
	Glycogen breakdown (glycogenolysis)
	Metabolism
	Glucose metabolism

2 Kegg Pathways (Kegg details for PHKB):

	Calcium signaling pathway
	Insulin signaling pathway

UniProtKB/Swiss-Prot: KPBB_HUMAN, Q93100

Pathway: Glycan biosynthesis; glycogen metabolism

PHKB for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PHKB

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/31 Interacting proteins for PHKB (Q93100^{2, 3} ENSP00000313504⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 31)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PASK	Q96RG2²^,³, ENSP00000234040⁴	MINT-8145434 MINT-8148568 I2D: score=1 STRING: ENSP00000234040
HNRNPC	P07910²^,³, ENSP00000319690⁴	MINT-67442 I2D: score=4 STRING: ENSP00000319690
UBE3A	Q05086³, ENSP00000381045⁴	I2D: score=1 STRING: ENSP00000381045
BRAF	P15056³, ENSP00000288602⁴	I2D: score=1 STRING: ENSP00000288602
C20orf27	Q9GZN8³, ENSP00000217195⁴	I2D: score=4 STRING: ENSP00000217195

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0005977	glycogen metabolic process	TAS	9402963
GO:0005980	glycogen catabolic process	TAS	--
GO:0006006	glucose metabolic process	TAS	--
GO:0006091	generation of precursor metabolites and energy	TAS	9402963

PHKB for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PHKB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PHKB
1 Novoseek chemical compound relationship for PHKB gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen	61.1	1	9384616 (1)

Search CenterWatch for drugs/clinical trials and news about PHKB / KPBB

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PHKB gene (2 alternative transcripts):

NM_000293.2 NM_001031835.2

Unigene Cluster for PHKB:

Phosphorylase kinase, beta

Hs.78060 [show with all ESTs]

Unigene Representative Sequence: NM_001031835

18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000566037 ENST00000566044(uc010vgi.1) ENST00000299167(uc002eew.4)

ENST00000323584 ENST00000566721 ENST00000565424 ENST00000567402 ENST00000563376

ENST00000567200 ENST00000564873 ENST00000570047 ENST00000566436 ENST00000568439

ENST00000568171 ENST00000566275 ENST00000566319 ENST00000564711 ENST00000455779(uc002eeu.4 uc002eev.4)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHKB
		8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate PHKB (see all 21):
		hsa-miR-411* hsa-miR-1178 hsa-miR-579 hsa-miR-448 hsa-miR-379* hsa-miR-3161 hsa-miR-1276 hsa-miR-548x

		SwitchGear 3'UTR luciferase reporter plasmid: PHKB 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PHKB (see all 7) OriGene shRNA RFP: PHKB OriGene siRNA: PHKB
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PHKB (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PHKB (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PHKB Browse OriGene validated miRNA SYBR primer pairs
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Additional cDNA sequence:

AK123692.1 AK293122.1 AK309226.1 BC033657.1 X84908.1

21 DOTS entries:

DT.445165 DT.100823842 DT.417371 DT.92435965 DT.75134954 DT.40120098 DT.317983 DT.317984

DT.120729193 DT.402632 DT.120729480 DT.99964727 DT.100651291 DT.120729159 DT.100027388 DT.102838732

DT.120729326 DT.75162294 DT.100876702 DT.40256510 DT.97806060

24/291 AceView cDNA sequences (see all 291):

BM312477 BM931956 BQ183487 AA425198 BM990026 AA476263 BU430739 BM711441

CB243789 CB243968 CR620978 BI822286 R60882 CB136242 BM661941 AW936151

AI804533 AI391490 CA437527 CB123411 BE748218 BM832038 BU507466 AI357009

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for PHKB About this scheme

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:

ECgene alternative splicing isoforms for PHKB

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PHKB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGTATGATC

About this image
See PHKB Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PHKB

SOURCE GeneReport for Unigene cluster: Hs.78060

SABiosciences Expression via Pathway-Focused PCR Array including PHKB:

Glucose Metabolism in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKB

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PHKB gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PHKB¹	phosphorylase kinase, beta	78.79(n) 84.77(a)		415741 NM_001007831.1 NP_001007832.1
lizard (Anolis carolinensis)	Reptilia	PHKB⁶	--	86(a)	1 ↔ 1	LGc(2994956-3138858)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.17057²	Transcribed sequence with moderate similarity to protein more	76.41(n)		BX737662.1
zebrafish (Danio rerio)	Actinopterygii	LOC569706¹	phosphorylase b kinase regulatory subunit beta-like	70.82(n) 78.02(a)		569706 XM_693105.5 XP_698197.5
fruit fly (Drosophila melanogaster)	Insecta	CG8475^{1 , 3}	phosphorylase kinase, regulator³ CG8475¹	46(a)³ 52.1(n)¹ 48.74(a)¹		28F1³ 34114¹ NM_135345.2¹ NP_609189.2¹
worm (Caenorhabditis elegans)	Secernentea	Y67D8A.1^{1 , 3}	hypothetical protein¹	38(a)³ 49.52(n)¹ 42.25(a)¹		IV(3225612-3251865)³ 177094¹ NM_067903.4¹ NP_500304.3¹

ENSEMBL Gene Tree for PHKB (if available)
TreeFam Gene Tree for PHKB (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PHKB gene

PHKA2² PHKA1²

2 SIMAP similar genes for PHKB using alignment to 9 protein entries: KPBB_HUMAN (see all proteins):

PHKA1 PHKA2

PHKB for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for PHKB
PGOHUM00000247772 PGOHUM00000247439

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs16945474^1,2	C,F,H,	non-pathogenic	33970183(+)	`AGTCTA/GTAGAA`	4	Y C	mis¹ ese³		20		NA NS EA WA CSA EU	7172
rs199948078^1,2	C	pathogenic	33937479(+)	`TGTATG/TAGATG`	4	E *	stg¹		0	--	--	--	--
rs111734407^1,2	C	pathogenic	33937482(+)	`CCATGC/TATGAG`	4	H Y	mis¹		1		CSA	2
rs34667348^1,2	C,F,	pathogenic	33982971(+)	`GTCTAA/C/TAGGTA`	6	K Q *	mis¹ stg¹		5		NA EU	5890
rs56257827^1,2	C,F,	pathogenic	34118329(+)	`GAAATG/TATTTC`	4	M I	mis¹		3		NA EU	5980
rs138169031^1,2	C,	unknown	33983211(+)	`ACAGTA/GAGCCC`	2	--	int¹		0	--	--	--	--
rs79062049^1,2	F	--	33384758(+)	`GTTTAG/AGCCCT`	2	--	us2k¹		1		NA	6
rs11559041^1,2	C	--	33385345(-)	`AACTCC/G/TGACAA`	2	--	us2k¹		1		NA	4500
rs11559043^1,2	C	--	33385384(-)	`GCCGAG/TGCCTG`	2	--	us2k¹		0	--	--	--	--
rs9938457^1,2	C,	--	33386032(+)	`AGGTGA/GCGGCC`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PHKB (47495034 - 47735434 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for PHKB
3 CNVs: 4004 8827 3119
Human Gene Mutation Database (HGMD): PHKB

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PHKB for disorders           About GeneDecksing

OMIM gene information: 172490
OMIM disorders: 261750
UniProtKB/Swiss-Prot: KPBB_HUMAN, Q93100

Defects in PHKB are the cause of glycogen storage disease type 9B (GSD9B) [MIM:261750]; also known as

phosphorylase kinase deficiency of liver and muscle (PKD). GSD9B is a metabolic disorder characterized by

hepathomegaly, 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

8 diseases for PHKB: About MalaCards

phosphorylase kinase deficiency of liver and muscle glycogen storage disease phosphorylase kinase deficiency of liver and muscle, autosomal recessive muscle glycogenosis

hepatitis metabolic disorders genetic disease hypoglycemia

1 disease from the University of Copenhagen DISEASES database for PHKB:

Glycogen storage disease

1 Novoseek disease relationship for PHKB gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen storage disease	88.3	4	9402963 (1), 9384616 (1), 9215682 (1)

Genetic Association Database (GAD): PHKB
Human Genome Epidemiology (HuGE) Navigator: PHKB (2 documents)

Export disorders for PHKB gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PHKB gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with PHKB)

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Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). (PubMed id 9402963)^{1, 2, 4, 9} Burwinkel B.... Kilimann M.W. (1997)
Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB). (PubMed id 8681948)^{1, 2, 9} Wuellrich-Schmoll A. and Kilimann M.W. (1996)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. (PubMed id 12825073)^{1, 2} Burwinkel B.... Kilimann M.W. (2003)
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). (PubMed id 9326319)^{1, 2} van den Berg I.E.T.... Berger R. (1997)
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). (PubMed id 9215682)^{1, 9} Burwinkel B....Kilimann M.W. (1997)
Glycogen storage disease type IX: High variability in clinical phenotype. (PubMed id 17689125)^{1, 9} Beauchamp N.J....Sharrard M. (2007)
Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease. (PubMed id 9533876)^{1, 9} Burwinkel B. and Kilimann M.W. (1998)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)¹ Lin Y.Y....Boeke J.D. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5257	HGNC: 8927	AceView: PHKB	Ensembl:ENSG00000102893	euGenes: HUgn5257
ECgene: PHKB	Kegg: 5257	H-InvDB: PHKB

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PHKB	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHKB

Intellectual Property for PHKB gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for PHKB gene:
Search GeneIP for patents involving PHKB

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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phosphorylase kinase, beta

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