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Aliases for PHKA2 Gene

Aliases for PHKA2 Gene

  • Phosphorylase Kinase Regulatory Subunit Alpha 2 2 3 5
  • Phosphorylase Kinase Alpha L Subunit 3 4
  • PYK 3 4
  • Phosphorylase B Kinase Regulatory Subunit Alpha, Liver Isoform 3
  • Phosphorylase Kinase, Alpha 2 (Liver) 3
  • Phosphorylase Kinase Alpha-Subunit 3
  • GSD9A 3
  • PHKLA 4
  • PYKL 3
  • XLG2 3
  • XLG 3
  • PHK 3

External Ids for PHKA2 Gene

Previous HGNC Symbols for PHKA2 Gene

  • PHK
  • PYK

Previous GeneCards Identifiers for PHKA2 Gene

  • GC0XM018454
  • GC0XM017577
  • GC0XM018112
  • GC0XM018272
  • GC0XM018670
  • GC0XM018820
  • GC0XM018910
  • GC0XM016663

Summaries for PHKA2 Gene

Entrez Gene Summary for PHKA2 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, 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]

GeneCards Summary for PHKA2 Gene

PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2) is a Protein Coding gene. Diseases associated with PHKA2 include Glycogen Storage Disease Ixa1 and Glycogen Storage Disease Due To Liver 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 PHKA1.

UniProtKB/Swiss-Prot for PHKA2 Gene

  • 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 Gene

Additional gene information for PHKA2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHKA2 Gene

Genomics for PHKA2 Gene

GeneHancer (GH) Regulatory Elements for PHKA2 Gene

Promoters and enhancers for PHKA2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI018982 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 252 2.8 ARNT SIN3A ZNF2 POLR2B E2F8 ZNF143 KLF13 SP3 SP5 ZC3H11A PHKA2 LOC101928415
GH0XI019342 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 10.9 -359.4 -359403 2.8 PKNOX1 SMAD1 ATF1 ARID4B SIN3A DMAP1 BRCA1 YY1 POLR2B GLIS2 PDHA1 PHKA2 PHKA2-AS1 GC0XP019376
GH0XI018855 Enhancer 0.7 ENCODE 12.4 +128.2 128224 1.2 SMAD1 EBF1 YBX1 ZNF207 ATF7 IKZF2 RUNX3 ZNF687 CBFB ZBED1 PHKA2-AS1 PHKA2 LOC100130035 HAUS1P2
GH0XI019046 Enhancer 0.7 ENCODE 12 -62.0 -62047 0.9 PKNOX1 JUN SIN3A ZBTB48 PRDM10 FOS FOSL2 RFX1 CEBPB EP300 PHKA2 PHKA2-AS1 LOC101928415 ADGRG2
GH0XI018933 Enhancer 0.5 ENCODE 12.3 +49.3 49250 4.4 ZNF664 FOXA2 HNF4A RAD21 PHKA2 SH3KBP1 RN7SL48P LOC101928415
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PHKA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PHKA2 gene promoter:

Genomic Locations for PHKA2 Gene

Genomic Locations for PHKA2 Gene
92,301 bases
Minus strand

Genomic View for PHKA2 Gene

Genes around PHKA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHKA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHKA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHKA2 Gene

Proteins for PHKA2 Gene

  • Protein details for PHKA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phosphorylase b kinase regulatory subunit alpha, liver isoform
    Protein Accession:
    Secondary Accessions:
    • A8K1T1
    • Q6LAJ5
    • Q7Z6W0
    • Q96CR3
    • Q9UDA1

    Protein attributes for PHKA2 Gene

    1235 amino acids
    Molecular mass:
    138408 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.

neXtProt entry for PHKA2 Gene

Post-translational modifications for PHKA2 Gene

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

Other Protein References for PHKA2 Gene

No data available for DME Specific Peptides for PHKA2 Gene

Domains & Families for PHKA2 Gene

Gene Families for PHKA2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PHKA2 Gene

Suggested Antigen Peptide Sequences for PHKA2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the phosphorylase b kinase regulatory chain family.
  • Belongs to the phosphorylase b kinase regulatory chain family.
genes like me logo Genes that share domains with PHKA2: view

Function for PHKA2 Gene

Molecular function for PHKA2 Gene

GENATLAS Biochemistry:
phosphorylase kinase,alpha 2 subunit,liver,glycogen catabolism
UniProtKB/Swiss-Prot EnzymeRegulation:
By phosphorylation of various serine residues and by calcium.
UniProtKB/Swiss-Prot Function:
Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.

Gene Ontology (GO) - Molecular Function for PHKA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004689 phosphorylase kinase activity TAS 7549948
GO:0005515 protein binding IPI 23455922
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with PHKA2: view
genes like me logo Genes that share phenotypes with PHKA2: view

Human Phenotype Ontology for PHKA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PHKA2 Gene

miRTarBase miRNAs that target PHKA2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for PHKA2 Gene

Localization for PHKA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHKA2 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

Subcellular locations from

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 PHKA2 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 3
mitochondrion 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PHKA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0005964 phosphorylase kinase complex TAS 7549948
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PHKA2: view

Pathways & Interactions for PHKA2 Gene

genes like me logo Genes that share pathways with PHKA2: view

Pathways by source for PHKA2 Gene

UniProtKB/Swiss-Prot P46019-KPB2_HUMAN

  • Pathway: Glycan biosynthesis; glycogen metabolism.

Gene Ontology (GO) - Biological Process for PHKA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 7549948
GO:0005977 glycogen metabolic process IEA --
GO:0005980 glycogen catabolic process TAS --
GO:0006091 generation of precursor metabolites and energy TAS 7549948
GO:0006464 cellular protein modification process TAS 7549948
genes like me logo Genes that share ontologies with PHKA2: view

No data available for SIGNOR curated interactions for PHKA2 Gene

Drugs & Compounds for PHKA2 Gene

(7) Drugs for PHKA2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(2) Additional Compounds for PHKA2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PHKA2: view

Transcripts for PHKA2 Gene

Unigene Clusters for PHKA2 Gene

Phosphorylase kinase, alpha 2 (liver):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHKA2 Gene

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: -
SP3: -
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: - - - - -
SP4: - - - - -
SP7: - - - -
SP8: - -
SP11: - - - - - - -

Relevant External Links for PHKA2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PHKA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHKA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHKA2 Gene

This gene is overexpressed in Liver (x5.0).

Protein differential expression in normal tissues from HIPED for PHKA2 Gene

This gene is overexpressed in Lavage (27.4) and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PHKA2 Gene

Protein tissue co-expression partners for PHKA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PHKA2 Gene:


SOURCE GeneReport for Unigene cluster for PHKA2 Gene:


mRNA Expression by UniProt/SwissProt for PHKA2 Gene:

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

Evidence on tissue expression from TISSUES for PHKA2 Gene

  • Liver(4.5)
  • Nervous system(4.5)
  • Intestine(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PHKA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • salivary gland
  • breast
  • esophagus
  • heart
  • adrenal gland
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • spleen
  • testicle
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with PHKA2: view

Orthologs for PHKA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHKA2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PHKA2 33 34
  • 94.87 (n)
(Canis familiaris)
Mammalia PHKA2 33 34
  • 91.01 (n)
(Bos Taurus)
Mammalia PHKA2 33 34
  • 90.74 (n)
(Monodelphis domestica)
Mammalia PHKA2 34
  • 90 (a)
(Mus musculus)
Mammalia Phka2 16 34 33
  • 87.18 (n)
(Rattus norvegicus)
Mammalia Phka2 33
  • 87.13 (n)
(Ornithorhynchus anatinus)
Mammalia PHKA2 34
  • 85 (a)
(Gallus gallus)
Aves PHKA2 33 34
  • 75.6 (n)
(Anolis carolinensis)
Reptilia PHKA2 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia phka2 33
  • 72.1 (n)
(Danio rerio)
Actinopterygii PHKA2 34
  • 72 (a)
LOC556199 33
  • 70.05 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7727 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000708 33
  • 59.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7766 35 33 34
  • 58.84 (n)
(Caenorhabditis elegans)
Secernentea C14B9.8 35 33 34
  • 49.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
Species where no ortholog for PHKA2 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)
  • 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 PHKA2 Gene

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

Paralogs for PHKA2 Gene

Paralogs for PHKA2 Gene

(1) SIMAP similar genes for PHKA2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PHKA2: view

Variants for PHKA2 Gene

Sequence variations from dbSNP and Humsavar for PHKA2 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs137852285 pathogenic, Glycogen storage disease type IXa1 18,901,487(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs137852286 pathogenic, Glycogen storage disease type IXa1 18,908,865(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs137852287 pathogenic, Glycogen storage disease type IXa1 18,897,299(-) G/A/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs137852288 pathogenic, Glycogen storage disease type IXa1, Glycogen storage disease 9A (GSD9A) [MIM:306000] 18,893,579(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs137852289 pathogenic, Glycogen storage disease type IXa1, Glycogen storage disease 9A (GSD9A) [MIM:306000] 18,940,017(-) T/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PHKA2 Gene

Variant ID Type Subtype PubMed ID
esv2752317 CNV gain 17911159
esv33517 CNV loss 17666407
esv3576793 CNV gain 25503493
nsv508754 CNV insertion 20534489
nsv6823 CNV insertion 18451855

Variation tolerance for PHKA2 Gene

Residual Variation Intolerance Score: 34.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.03; 50.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHKA2 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHKA2 Gene

Disorders for PHKA2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PHKA2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PHKA2 in MalaCards View complete list of genes associated with diseases


  • Glycogen storage disease 9A (GSD9A) [MIM:306000]: A metabolic disorder resulting in a mild liver 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. {ECO:0000269 PubMed:10330341, ECO:0000269 PubMed:17689125, ECO:0000269 PubMed:7549948, ECO:0000269 PubMed:7847371, ECO:0000269 PubMed:8733133, ECO:0000269 PubMed:8733134, ECO:0000269 PubMed:9600238}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PHKA2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PHKA2: view

No data available for Genatlas for PHKA2 Gene

Publications for PHKA2 Gene

  1. Glycogen storage disease type IX: High variability in clinical phenotype. (PMID: 17689125) Beauchamp NJ … Sharrard M (Molecular genetics and metabolism 2007) 3 4 22 58
  2. Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. (PMID: 10330341) Hendrickx J … Willems PJ (American journal of human genetics 1999) 3 4 22 58
  3. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. (PMID: 9600238) Burwinkel B … Kilimann MW (Human genetics 1998) 3 4 22 58
  4. X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. (PMID: 8733133) Hendrickx J … Willems PJ (Human molecular genetics 1996) 3 4 22 58
  5. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). (PMID: 8733134) Burwinkel B … Kilimann MW (Human molecular genetics 1996) 3 4 22 58

Products for PHKA2 Gene

  • Addgene plasmids for PHKA2

Sources for PHKA2 Gene

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