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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, Type Ixa1 and Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency. Among its related pathways are Metabolism and Glycogen Metabolism. GO annotations related to this gene include calmodulin binding and phosphorylase kinase activity. An important paralog of this gene is 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

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

Genomics for PHKA2 Gene

Regulatory Elements for PHKA2 Gene

Enhancers for PHKA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF019342 1.3 FANTOM5 ENCODE 10.9 -359.3 -359342 2.7 PKNOX1 ATF1 CREB3L1 ARID4B SIN3A DMAP1 BRCA1 GLIS2 ZNF143 FOS PHKA2 PHKA2-AS1 PDHA1 GC0XP019376
GH0XF018855 1.1 Ensembl ENCODE 12.4 +128.2 128225 1.2 TBL1XR1 WRNIP1 YBX1 EBF1 HIC1 GLIS2 CBX5 SCRT2 EED SMC3 PHKA2-AS1 PHKA2 LOC100130035 HAUS1P2
GH0XF019046 1 Ensembl ENCODE 12 -62.0 -62048 0.9 PKNOX1 JUN INSM2 SIN3A ZIC2 HIC1 GLIS2 ZBTB48 PRDM10 FOSL2 PHKA2 PHKA2-AS1 ADGRG2
GH0XF018956 0.6 Ensembl 13.7 +27.8 27829 0.9 ZFHX2 PBX2 HMBOX1 CEBPB EGR2 PHKA2 LOC101928415 RN7SL48P
GH0XF018933 0.5 ENCODE 12.3 +49.3 49251 4.4 CTCF ZNF664 SCRT2 RAD21 PHKA2 SH3KBP1 RN7SL48P LOC101928415
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHKA2 on UCSC Golden Path with GeneCards custom track

Promoters for PHKA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000476168 198 3200 ATF1 SIN3A ZNF2 GLIS2 ELK1 ZMIZ1 KLF13 SP3 SP5 NCOA1

Genomic Location for PHKA2 Gene

Chromosome:
X
Start:
18,892,298 bp from pter
End:
18,984,598 bp from pter
Size:
92,301 bases
Orientation:
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:
    P46019-KPB2_HUMAN
    Recommended name:
    Phosphorylase b kinase regulatory subunit alpha, liver isoform
    Protein Accession:
    P46019
    Secondary Accessions:
    • A8K1T1
    • Q6LAJ5
    • Q7Z6W0
    • Q96CR3
    • Q9UDA1

    Protein attributes for PHKA2 Gene

    Size:
    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

Antibody Products

  • Abcam antibodies for PHKA2
  • Santa Cruz Biotechnology (SCBT) Antibodies for PHKA2

No data available for DME Specific Peptides for PHKA2 Gene

Domains & Families for PHKA2 Gene

Suggested Antigen Peptide Sequences for PHKA2 Gene

Graphical View of Domain Structure for InterPro Entry

P46019

UniProtKB/Swiss-Prot:

KPB2_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 PHKA2: view

No data available for Gene Families for PHKA2 Gene

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

miRNA for PHKA2 Gene

miRTarBase miRNAs that target PHKA2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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

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 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:

Inhibitory RNA Products

Flow Cytometry 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: -
SP2:
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

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:
SP6:
SP7: - - - -
SP8: - -
SP9:
SP10:
SP11: - - - - - - -
SP12:

Relevant External Links for PHKA2 Gene

GeneLoc Exon Structure for
PHKA2
ECgene alternative splicing isoforms for
PHKA2

Expression for PHKA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

PHKA2

SOURCE GeneReport for Unigene cluster for PHKA2 Gene:

Hs.54941

mRNA Expression by UniProt/SwissProt for PHKA2 Gene:

P46019-KPB2_HUMAN
Tissue specificity: Predominantly expressed in liver and other non-muscle tissues.
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
chimpanzee
(Pan troglodytes)
Mammalia PHKA2 34 35
  • 94.87 (n)
dog
(Canis familiaris)
Mammalia PHKA2 34 35
  • 91.01 (n)
cow
(Bos Taurus)
Mammalia PHKA2 34 35
  • 90.74 (n)
oppossum
(Monodelphis domestica)
Mammalia PHKA2 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phka2 34 16 35
  • 87.18 (n)
rat
(Rattus norvegicus)
Mammalia Phka2 34
  • 87.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PHKA2 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHKA2 34 35
  • 75.6 (n)
lizard
(Anolis carolinensis)
Reptilia PHKA2 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phka2 34
  • 72.1 (n)
zebrafish
(Danio rerio)
Actinopterygii PHKA2 35
  • 72 (a)
OneToOne
LOC556199 34
  • 70.05 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7727 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000708 34
  • 59.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7766 36 34 35
  • 58.84 (n)
worm
(Caenorhabditis elegans)
Secernentea C14B9.8 36 34 35
  • 49.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToOne
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

ENSEMBL:
Gene Tree for PHKA2 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs137852288 Glycogen storage disease 9A (GSD9A) [MIM:306000], Pathogenic 18,893,579(-) CGCTC(C/T)GAGTG intron-variant, nc-transcript-variant, reference, missense
rs137852289 Glycogen storage disease 9A (GSD9A) [MIM:306000], Pathogenic 18,940,017(-) TCGAG(A/G)TGGTT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs137852290 Glycogen storage disease 9A (GSD9A) [MIM:306000], Pathogenic 18,945,139(-) GGAGC(A/G)TGGAG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs137852291 Glycogen storage disease 9A (GSD9A) [MIM:306000], Pathogenic 18,951,163(-) GGGCC(A/C)CCTCC intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs137852292 Glycogen storage disease 9A (GSD9A) [MIM:306000], Pathogenic 18,951,164(-) GGGGC(C/T)ACCTC intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime

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)

Relevant External Links for PHKA2 Gene

Human Gene Mutation Database (HGMD)
PHKA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHKA2

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

Disorders for PHKA2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glycogen storage disease, type ixa1
  • glycogen storage disease, type ixa2
glycogen storage disease due to liver phosphorylase kinase deficiency
  • gsd due to liver phosphorylase kinase deficiency
phka2-related phosphorylase kinase deficiency
  • glycogen storage disease type ixa
glycogen storage disease
  • glycogenoses
glycogen storage disease ia
  • glycogen storage disease i
- elite association - COSMIC cancer census association via MalaCards
Search PHKA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KPB2_HUMAN
  • 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.

Relevant External Links for PHKA2

Genetic Association Database (GAD)
PHKA2
Human Genome Epidemiology (HuGE) Navigator
PHKA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHKA2
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 N.J. … Sharrard M. (Mol. Genet. Metab. 2007) 3 4 22 64
  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 P.J. (Am. J. Hum. Genet. 1999) 3 4 22 64
  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 M.W. (Hum. Genet. 1998) 3 4 22 64
  4. 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 M.W. (Hum. Mol. Genet. 1996) 3 4 22 64
  5. 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 P.J. (Hum. Mol. Genet. 1996) 3 4 22 64

Products for PHKA2 Gene

Sources for PHKA2 Gene

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