Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PHKA2 Gene

protein-coding GIFtS: 67
GCID: GC0XM018910

phosphorylase kinase, alpha 2 (liver)

(Previous symbols: PHK, PYK)

Explore 22 diseases affiliated with
PHKA2 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, Alpha 2 (Liver)¹ ²		XLG² ⁵
PYK¹ ² ³		XLG2²
PHK¹ ² ⁵		Phosphorylase B Kinase Regulatory Subunit Alpha Liver Isoform²
Phosphorylase Kinase Alpha L Subunit² ³		Phosphorylase B Kinase Regulatory Subunit Alpha, Liver Isoform²
GSD9A² ⁵		Phosphorylase Kinase Alpha-Subunit²
PYKL² ⁵		PHKLA³

External Ids:	HGNC: 8926¹	Entrez Gene: 5256²	Ensembl: ENSG00000044446⁷	OMIM: 300798⁵	UniProtKB: P46019³

Export aliases for PHKA2 gene to outside databases

Previous GC identifers: GC0XM018454 GC0XM017577 GC0XM018112 GC0XM018272 GC0XM018670 GC0XM018820 GC0XM016663

(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 PHKA2:

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, and the hepatic isoform is encoded by this gene. The beta subunit is the

same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal

muscle and hepatic isoforms, which are 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 9A, also known as X-linked

liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these

variants has not been determined.(provided by RefSeq, Feb 2010)

UniProtKB/Swiss-Prot: KPB2_HUMAN, P46019

Function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I.

The alpha chain may bind calmodulin

Gene Wiki entry for PHKA2

(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_000023.10 NC_018934.1 NT_167197.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PHKA2 gene promoter:
MEF-2A POU2F1 POU2F1a NRSF form 1 aMEF-2 NRSF form 2 GATA-1 RORalpha2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PHKA2 promoter sequence

Search SABiosciences Chromatin IP Primers for PHKA2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHKA2

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

Entrez Gene cytogenetic band: Xp22.2-p22.1 Ensembl cytogenetic band: Xp22.13 HGNC cytogenetic band: Xp22.2-p22.1

PHKA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHKA2 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM018910: view genomic region (about GC identifiers)

Start:	18,910,416 bp from pter	End:	19,002,716 bp from pter
Size:	92,301 bases	Orientation:	minus 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: KPB2_HUMAN, P46019 (See protein sequence)

Recommended Name: Phosphorylase b kinase regulatory subunit alpha, liver isoform

Size: 1235 amino acids; 138408 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: A8K1T1 Q6LAJ5 Q7Z6W0 Q96CR3 Q9UDA1

Explore the universe of human proteins at neXtProt for PHKA2: NX_P46019

Post-translational modifications:

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_P46019

PHKA2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000283.1

ENSEMBL proteins:

ENSP00000369274

Reactome Protein details: P46019
Human Recombinant Protein Products for PHKA2:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: PHKA2 OriGene Protein Over-expression Lysate: PHKA2 OriGene Custom Protein Services for PHKA2
	GenScript Custom Purified and Recombinant Proteins Services for PHKA2
	Novus Biologicals PHKA2 Proteins Novus Biologicals PHKA2 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	TAS	7549948

PHKA2 for ontologies About GeneDecksing

PHKA2 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	OriGene Antibodies: PHKA2 OriGene Custom Antibody Services for PHKA2
	GenScript Custom Superior Antibodies Services for PHKA2
	Novus Biologicals PHKA2 Antibodies
	Abcam antibodies for PHKA2
	Browse Antibodies at Uscn
	ThermoFisher Antibodies for PHKA2

Assay Products for PHKA2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PHKA2
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

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

PHKA2 for domains About GeneDecksing

4 InterPro domains/families:

IPR008734 PHK_A/B_su

IPR011613 Glyco_hydro_15

IPR012341 6hp_glycosidase

IPR008928 6-hairpin_glycosidase-like

Graphical View of Domain Structure for InterPro Entry P46019

ProtoNet protein and cluster: P46019

1 Blocks protein family: IPB008734 Phosphorylase kinase alphabeta

UniProtKB/Swiss-Prot: KPB2_HUMAN, P46019

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, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: KPB2_HUMAN, P46019

Function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I.

The alpha chain may bind calmodulin

Enzyme regulation: By phosphorylation of various serine residues and by calcium

Genatlas biochemistry entry for PHKA2:

phosphorylase kinase,alpha 2 subunit,liver,glycogen catabolism

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	TAS	7549948
GO:0005516	calmodulin binding	IEA	--

PHKA2 for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for PHKA2:

Increased apoptosis

Increased cell death HMECs cel

Upregulation of Wnt/beta-caten

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PHKA2

miRNA Products:		OriGene 3'-UTR Clone: PHKA2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHKA2
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate PHKA2:
		hsa-miR-668 hsa-miR-320e hsa-miR-3130-3p hsa-miR-1324 hsa-miR-597 hsa-miR-138-2* hsa-miR-592
		SwitchGear 3'UTR luciferase reporter plasmid: PHKA2 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 PHKA2 (see all 4) OriGene shRNA RFP: PHKA2 OriGene siRNA: PHKA2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PHKA2
		Sirion Biotech Custom design and validation of potent shRNA sequences against PHKA2

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for PHKA2
			Sirion Biotech Customized adenovirus for overexpression of PHKA2 Sirion Biotech Customized adenovirus for potent knockdown of PHKA2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PHKA2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PHKA2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PHKA2 (NM_000292)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHKA2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHKA2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PHKA2
		Search LifeMap BioReagents cell lines for PHKA2
		Sirion Biotech Customized stable knockdown cell line services for PHKA2 Sirion Biotech Customized inducible knockdown cell line services for PHKA2 Sirion Biotech Customized stable overexpressing cell line services for PHKA2 Sirion Biotech Customized inducible overexpressing cell line services for PHKA2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKA2

(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 cAMP signaling

0.44

Signal transduction_cAMP signaling

0.44

Glucose metabolism

Glucose metabolism

1.00

Metabolism

Metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for PHKA2

Signal transduction cAMP signaling

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PHKA2

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

1 GeneGo (Thomson Reuters) Pathway for PHKA2

Signal transduction cAMP signaling

1 BioSystems Pathway for PHKA2

Glycogen Metabolism

4 Reactome Pathways for PHKA2

	Metabolism of carbohydrates
	Glycogen breakdown (glycogenolysis)
	Metabolism
	Glucose metabolism

2 Kegg Pathways (Kegg details for PHKA2):

	Calcium signaling pathway
	Insulin signaling pathway

UniProtKB/Swiss-Prot: KPB2_HUMAN, P46019

Pathway: Glycan biosynthesis; glycogen metabolism

PHKA2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PHKA2

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/26 Interacting proteins for PHKA2 (P46019^{2, 3} ENSP00000369274⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD9	O15198²^,³	MINT-62134 I2D: score=3
UBE3A	Q05086³, ENSP00000381045⁴	I2D: score=1 STRING: ENSP00000381045
RAF1	P04049³, ENSP00000251849⁴	I2D: score=1 STRING: ENSP00000251849
LMLN	Q96KR4³	I2D: score=5
METTL13	Q8N6R0³	I2D: score=4

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:0005980	glycogen catabolic process	TAS	--
GO:0006006	glucose metabolic process	TAS	--
GO:0006091	generation of precursor metabolites and energy	TAS	7549948
GO:0006464	cellular protein modification process	TAS	7549948

PHKA2 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

PHKA2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PHKA2

1 HMDB Compound for PHKA2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

9 Novoseek chemical compound relationships for PHKA2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen	74.6	35	15362101 (3), 11796108 (2), 17667862 (2), 7874115 (1) (see all 24)
pyruvate	32.8	4	16540430 (1), 20502716 (1), 19149159 (1), 1618087 (1)
curcumin	27.7	5	7511111 (4), 11069500 (1)
proline	19.3	1	15362101 (1)
tyrosine	2.29	3	10454193 (1), 20020888 (1), 10545198 (1)
atp	0	3	11069500 (1)
glucose	0	1	10987651 (1)
calcium	0	3	11069500 (1), 15362101 (1)
adp	0	2	10333288 (1), 10545198 (1)

Search CenterWatch for drugs/clinical trials and news about PHKA2 / KPB2

(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, Sirion Biotech, 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 PHKA2 gene:

NM_000292.2

Unigene Cluster for PHKA2:

Phosphorylase kinase, alpha 2 (liver)

Hs.54941 [show with all ESTs]

Unigene Representative Sequence: NM_000292

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

ENST00000379942(uc010nfe.1 uc010nff.1 uc010nfg.1 uc010nfh.1 uc010nfi.1 uc004cyv.4)

ENST00000481718 ENST00000469485 ENST00000473597 ENST00000473739 ENST00000469645

ENST00000486231 ENST00000464455

miRNA Products:		OriGene 3'-UTR Clone: PHKA2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHKA2
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate PHKA2:
		hsa-miR-668 hsa-miR-320e hsa-miR-3130-3p hsa-miR-1324 hsa-miR-597 hsa-miR-138-2* hsa-miR-592
		SwitchGear 3'UTR luciferase reporter plasmid: PHKA2 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 PHKA2 (see all 4) OriGene shRNA RFP: PHKA2 OriGene siRNA: PHKA2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PHKA2
		Sirion Biotech Custom design and validation of potent shRNA sequences against PHKA2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PHKA2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PHKA2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PHKA2 (NM_000292)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHKA2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHKA2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PHKA2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PHKA2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PHKA2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PHKA2

Additional cDNA sequence:

AK289996.1 AY429559.1 AY429560.1 AY429561.1 AY429562.1 AY429563.1 BC014036.2 BC114375.1

D38616.1 X73875.1 X80497.1

23 DOTS entries:

DT.446566 DT.92430803 DT.100789679 DT.92416042 DT.100705317 DT.100702790 DT.100789672 DT.102821389

DT.102821391 DT.121302893 DT.40243283 DT.121302817 DT.40286564 DT.95346925 DT.100789673 DT.100789674

DT.121302873 DT.203273 DT.435935 DT.86854707 DT.75176067 DT.86842544 DT.91672485

24/196 AceView cDNA sequences (see all 196):

BU180711 CB177922 AW016108 BM975476 AW467796 X80497 BQ188385 AA426171

AW197246 BQ954782 AA459976 CD722555 BX508020 BX474706 BQ719598 AI963745

AY429562 BM793818 BE079276 AL043131 CR596323 AA425540 AU122420 BQ718618

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for PHKA2 (see all 12) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7	^	8	^	9a	·	9b	^	10	^	11	^	12	^	13	^	14	^	15a	·	15b	^	16	^	17	^	18	^	19	^	20	^	21	^	22a	·
SP1:																																											-
SP2:
SP3:																			-
SP4:
SP5:			-

ExUns:	22b	^	23	^	24	^	25	^	26a	·	26b	^	27	^	28a	·	28b	^	29	^	30	^	31	^	32a	·	32b	^	33	^	34a	·	34b	^	35a	·	35b	·	35c	^	36	^	37a	·	37b	·	37c	·	37d
SP1:																			-								-		-		-				-		-
SP2:																			-										-		-				-		-
SP3:
SP4:																							-		-		-		-		-
SP5:

ECgene alternative splicing isoforms for PHKA2

(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

PHKA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTCTTCCAGG

About this image

PHKA2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Spermatid

Germ Cells, Male Gametocytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PHKA2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PHKA2

SOURCE GeneReport for Unigene cluster: Hs.54941

UniProtKB/Swiss-Prot: KPB2_HUMAN, P46019

Tissue specificity: Predominantly expressed in liver and other non-muscle tissues

SABiosciences Custom PCR Arrays for PHKA2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PHKA2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PHKA2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PHKA2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PHKA2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKA2

(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 PHKA2 gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PHKA2¹	phosphorylase kinase, alpha 2 (liver)	76.14(n) 82.64(a)		418612 XM_416811.3 XP_416811.3
lizard (Anolis carolinensis)	Reptilia	PHKA2⁶	--	83(a)	1 ↔ 1	3(123150448-123214729)
zebrafish (Danio rerio)	Actinopterygii	LOC556199¹	phosphorylase b kinase regulatory subunit alpha, liver more	70.96(n) 76.01(a)		556199 XM_678952.5 XP_684044.3
fruit fly (Drosophila melanogaster)	Insecta	CG7766^{1 , 3}	phosphorylase kinase, regulator³ CG7766¹	51(a)³ 57.46(n)¹ 55.53(a)¹		31839¹ NM_001144707.2¹ NP_001138179.1¹
worm (Caenorhabditis elegans)	Secernentea	C14B9.8^{1 , 3}	Phosphorylase kinase³ Protein C14B9.8¹	42(a)³ 48.94(n)¹ 43.66(a)¹		III(8211651-8216537)³ 176149¹ NM_066376.4¹ NP_498777.2¹

ENSEMBL Gene Tree for PHKA2 (if available)
TreeFam Gene Tree for PHKA2 (if available)

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

Paralogs for PHKA2 gene

PHKA1² PHKB²

2 SIMAP similar genes for PHKA2 using alignment to 2 protein entries: KPB2_HUMAN (see all proteins):

PHKA1 PHKB

PHKA2 for paralogs About GeneDecksing

(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 X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs151344533^1,2	C	non-pathogenic	18942302(-)	`ATAACC/GGAAAA`	1	--	int¹		0	--	--	--	--
rs140662042^1,2	C	non-pathogenic	18959796(+)	`AGACTA/GAATGA`	1	--	int¹		0	--	--	--	--
rs17313469^1,2	C,F,H	non-pathogenic	18972497(+)	`CTGCTC/GATGGC`	2	Q E	mis¹		11		NA NS EA	5172
rs111551707^1,2	C	--	18909917(+)	`TGTGCT/CGCCCT`	2	--	ds500¹ int¹		1		CSA	1
rs142212861^1,2		--	18909950(+)	`CAAAAG/TGCAAG`	2	--	ds500¹ int¹		0	--	--	--	--
rs146387045^1,2		--	18909985(+)	`ATATGG/TAGAGA`	2	--	ds500¹ int¹		0	--	--	--	--
rs189639065^1,2		--	18909994(+)	`GACTCC/TGGGGG`	2	--	int¹ ds500¹		0	--	--	--	--
rs137907969^1,2		--	18910068(+)	`GAAACA/GGCATG`	2	--	ds500¹ int¹		0	--	--	--	--
rs192144428^1,2		--	18910174(+)	`CACCTA/GAGGCC`	2	--	ds500¹ int¹		0	--	--	--	--
rs113162647^1,2	C	--	18910261(+)	`CCACTT/CGAAGC`	2	--	ds500¹ int¹		1		CSA	1

HapMap Linkage Disequilibrium report for PHKA2 (18910416 - 19002716 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for PHKA2
4 CNVs: 7775 96517 8301 83385
Human Gene Mutation Database (HGMD): PHKA2

Locus Specific Mutation Databases (LSDB): PHKA2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PHKA2

DNA2.0 Custom Variant and Variant Library Synthesis for PHKA2

(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

PHKA2 for disorders           About GeneDecksing

OMIM gene information: 300798
OMIM disorders: 306000
UniProtKB/Swiss-Prot: KPB2_HUMAN, P46019

Defects in PHKA2 are the cause of glycogen storage disease type 9A (GSD9A) [MIM:306000]; also known as

X-linked liver glycogenosis (XLG). GSD9A is a metabolic disorder resulting in a mild glycogenosis with clinical

symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase

and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two

subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2

or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other

glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and

are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest

20/22 diseases for PHKA2 (see all 22): About MalaCards

glycogen storage disease x-linked liver glycogenosis type 1 hepatitis glycogen storage disease, type ixa2

glycogen storage disease, type ixa1 coffin-lowry syndrome muscle glycogenosis japanese encephalitis

retinoschisis metabolic disorders encephalitis chagas disease

fanconi syndrome hypertriglyceridemia hepatitis c myopathy

hypercholesterolemia hepatocellular carcinoma psoriasis pneumonia

2 diseases from the University of Copenhagen DISEASES database for PHKA2:

Glycogen storage disease Retinoschisis

4 Novoseek disease relationships for PHKA2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen storage disease	91.7	36	9402963 (3), 12825073 (3), 9600238 (2), 1372435 (2) (see all 20)
glycogen storage disease type i	63.3	2	7711737 (1), 10330341 (1)
myopathy	33.8	8	15637709 (2), 20080404 (2), 9731190 (1), 18401027 (1)
cirrhosis	8.82	3	9384616 (2)

Human Genome Epidemiology (HuGE) Navigator: PHKA2 (1 document)

Export disorders for PHKA2 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 PHKA2 gene, integrated from 9 sources (see all 117):
(articles sorted by number of sources associating them with PHKA2)

Utopia: connect your pdf to the dynamic
world of online information

Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II. (PubMed id 10330341)^{1, 2, 9} Hendrickx J.... Willems P.J. (1999)
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). (PubMed id 8733134)^{1, 2, 9} Burwinkel B.... Kilimann M.W. (1996)
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. (PubMed id 8733133)^{1, 2, 9} Hendrickx J.... Willems P.J. (1996)
Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency. (PubMed id 7549948)^{1, 2, 9} Hirono H.... Takada G. (1995)
X-linked liver glycogenosis: localization and isolation of a candidate gene. (PubMed id 8518797)^{1, 2, 9} Hendrickx J.... Berthelot J. (1993)
Glycogen storage disease type IX: High variability in clinical phenotype. (PubMed id 17689125)^{1, 2, 9} Beauchamp N.J....Sharrard M. (2007)
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. (PubMed id 7847371)^{1, 2, 9} van den Berg I.E.T....Berger R. (1995)
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. (PubMed id 9600238)^{1, 2, 9} Burwinkel B.... Kilimann M.W. (1998)
The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution. (PubMed id 8226841)^{1, 2, 9} Wuellrich A.... Kilimann M.W. (1993)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)

(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: 5256	HGNC: 8926	AceView: PHKA2	Ensembl:ENSG00000044446	euGenes: HUgn5256
ECgene: PHKA2	Kegg: 5256	H-InvDB: PHKA2

(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 PHKA2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PHKA2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHKA2

Intellectual Property for PHKA2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for PHKA2 gene:
Search GeneIP for patents involving PHKA2

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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	OriGene Antibodies for PHKA2		OriGene shRNA RFP for PHKA2
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PHKA2		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PHKA2
	OriGene Protein Over-expression Lysate for PHKA2		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for PHKA2		OriGene 3'-UTR Clone for PHKA2
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PHKA2		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PHKA2
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for PHKA2		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for PHKA2		OriGene Custom Protein Services for PHKA2
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PHKA2
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PHKA2
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHKA2
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PHKA2
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PHKA2
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PHKA2

	GenScript Custom Purified and Recombinant Proteins Services for PHKA2		GenScript cDNA clones with any tag delivered in your preferred vector for PHKA2
	GenScript Custom Assay Services for PHKA2		GenScript Custom Superior Antibodies Services for PHKA2
	GenScript Custom overexpressing Cell Line Services for PHKA2		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in PHKA2 promoter
	Search Chromatin IP Primers for PHKA2
	RT² qPCR Primer Assay in human, mouse, rat PHKA2
	Search GNC Networks for PHKA2
	SABiosciences PCR Arrays including human, mouse, rat PHKA2

Search Tocris compounds for PHKA2

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	PHKA2 antibodies
	PHKA2 proteins
	PHKA2 lysates

	Antibodies for PHKA2
	See all of Abcam's Antibodies, Kits and Proteins for PHKA2
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn

Search LifeMap BioReagents cell lines for PHKA2

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKA2

	SwitchGear 3'UTR luciferase reporter plasmids for PHKA2
	SwitchGear Promoter luciferase reporter plasmids for PHKA2

ThermoFisher Antibodies for PHKA2

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHKA2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PHKA2

Sirion Biotech Customized:

	stable knockdown cell line services for PHKA2
	inducible knockdown cell line services for PHKA2
	design and validation of potent shRNA sequences against PHKA2
	adenovirus for potent knockdown of PHKA2
	adenovirus for overexpression of PHKA2
	stable overexpressing cell line services for PHKA2
	inducible overexpressing cell line services for PHKA2

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes PHKA2 gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

PHKA2 Gene

phosphorylase kinase, alpha 2 (liver)

Aliases
for PHKA2 gene

Summaries
for PHKA2 gene

Genomic Views
for PHKA2 gene

Proteins
for PHKA2 gene

Protein Domains /
Families
for PHKA2 gene

Function
for PHKA2 gene

Pathways & Interactions
for PHKA2 gene

Drugs & Compounds
for PHKA2 gene

Transcripts
for PHKA2 gene

Expression
for PHKA2 gene

Orthologs
for PHKA2 gene

Paralogs
for PHKA2 gene

Genomic Variants
for PHKA2 gene

Disorders / Diseases
for PHKA2 gene

Publications
for PHKA2 gene

External Searches for PHKA2 gene

Genome Databases showing PHKA2 gene

Other Databases showing PHKA2 gene

Specialized Databases showing PHKA2 gene

Intellectual Property
for PHKA2 gene

Products
for PHKA2 gene

View Random Gene

Advanced Search

Export list of displayed genes

PHKA2 Gene

phosphorylase kinase, alpha 2 (liver)

Aliasesfor PHKA2 gene

Summariesfor PHKA2 gene

Genomic Viewsfor PHKA2 gene

Proteinsfor PHKA2 gene

Protein Domains /Familiesfor PHKA2 gene

Functionfor PHKA2 gene

Pathways & Interactionsfor PHKA2 gene

Drugs & Compoundsfor PHKA2 gene

Transcriptsfor PHKA2 gene

Expression for PHKA2 gene

Orthologsfor PHKA2 gene

Paralogsfor PHKA2 gene

Genomic Variantsfor PHKA2 gene

Disorders / Diseasesfor PHKA2 gene

Publicationsfor PHKA2 gene

External Searches for PHKA2 gene

Genome Databases showing PHKA2 gene

Other Databases showing PHKA2 gene

Specialized Databases showing PHKA2 gene

Intellectual Propertyfor PHKA2 gene

Productsfor PHKA2 gene

View Random Gene

Aliases
for PHKA2 gene

Summaries
for PHKA2 gene

Genomic Views
for PHKA2 gene

Proteins
for PHKA2 gene

Protein Domains /
Families
for PHKA2 gene

Function
for PHKA2 gene

Pathways & Interactions
for PHKA2 gene

Drugs & Compounds
for PHKA2 gene

Transcripts
for PHKA2 gene

Expression
for PHKA2 gene

Orthologs
for PHKA2 gene

Paralogs
for PHKA2 gene

Genomic Variants
for PHKA2 gene

Disorders / Diseases
for PHKA2 gene

Publications
for PHKA2 gene

Intellectual Property
for PHKA2 gene

Products
for PHKA2 gene