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Aliases for PHKA2 Gene

Aliases for PHKA2 Gene

  • Phosphorylase Kinase, Alpha 2 (Liver) 2 3
  • Phosphorylase Kinase Alpha L Subunit 3 4
  • GSD9A 3 6
  • PYKL 3 6
  • PYK 3 4
  • XLG 3 6
  • PHK 3 6
  • Phosphorylase B Kinase Regulatory Subunit Alpha, Liver Isoform 3
  • Phosphorylase B Kinase Regulatory Subunit Alpha Liver Isoform 3
  • Phosphorylase Kinase Alpha-Subunit 3
  • PHKLA 4
  • XLG2 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, Alpha 2 (Liver)) is a Protein Coding gene. Diseases associated with PHKA2 include glycogen storage disease, type ixa1 and phka2-related phosphorylase kinase deficiency. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include calmodulin binding and phosphorylase kinase activity. An important paralog of this gene is PHKB.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PHKA2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PHKA2 Gene at MOPED

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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PHKA2 Gene

Domains for PHKA2 Gene

Suggested Antigen Peptide Sequences for PHKA2 Gene

Graphical View of Domain Structure for InterPro Entry

P46019

UniProtKB/Swiss-Prot:

KPB2_HUMAN :
  • P46019
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:0003824 catalytic activity --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004689 phosphorylase kinase activity IEA --
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

Animal Model Products

miRNA for PHKA2 Gene

miRTarBase miRNAs that target PHKA2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PHKA2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for PHKA2 Gene COMPARTMENTS Subcellular localization image for PHKA2 gene
Compartment Confidence
plasma membrane 5
cytosol 4
mitochondrion 1
nucleus 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 IEA --
genes like me logo Genes that share ontologies with PHKA2: view

Pathways for PHKA2 Gene

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

Pathways by source for PHKA2 Gene

2 KEGG pathways for PHKA2 Gene
1 GeneGo (Thomson Reuters) pathway 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 --
GO:0005976 polysaccharide metabolic process --
GO:0005980 glycogen catabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006091 generation of precursor metabolites and energy TAS 7549948
genes like me logo Genes that share ontologies with PHKA2: view

Compounds for PHKA2 Gene

(1) HMDB Compounds for PHKA2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(9) Novoseek inferred chemical compound relationships for PHKA2 Gene

Compound -log(P) Hits PubMed IDs
glycogen 74.6 28
pyruvate 32.8 4
curcumin 27.7 5
proline 19.3 1
tyrosine 2.29 3
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PHKA2

Primer 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 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 (5.0).

Protein differential expression in normal tissues for PHKA2 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PHKA2 Gene

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 expressions with PHKA2: view

Expression partners for PHKA2 Gene

In Situ Assay Products

Orthologs for PHKA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHKA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PHKA2 35
  • 90.74 (n)
  • 94.9 (a)
PHKA2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHKA2 35
  • 91.01 (n)
  • 95.53 (a)
PHKA2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phka2 35
  • 87.18 (n)
  • 90.85 (a)
Phka2 16
Phka2 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PHKA2 35
  • 94.87 (n)
  • 94.04 (a)
PHKA2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phka2 35
  • 87.13 (n)
  • 91.34 (a)
oppossum
(Monodelphis domestica)
Mammalia PHKA2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHKA2 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHKA2 35
  • 75.6 (n)
  • 81.56 (a)
PHKA2 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHKA2 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phka2 35
  • 72.1 (n)
  • 78.33 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC556199 35
  • 70.05 (n)
  • 75.1 (a)
PHKA2 36
  • 72 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7727 35
fruit fly
(Drosophila melanogaster)
Insecta CG7766 37
  • 51 (a)
CG7766 35
  • 58.84 (n)
  • 57.13 (a)
CG7766 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000708 35
  • 59.4 (n)
  • 58.35 (a)
worm
(Caenorhabditis elegans)
Secernentea C14B9.8 37
  • 42 (a)
C14B9.8 35
  • 49.41 (n)
  • 44.95 (a)
C14B9.8 36
  • 41 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToOne
Species with no ortholog for PHKA2:
  • 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

Selected 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 MAF
rs952575 -- 18,951,418(-) TGTGC(A/G)GTGCT intron-variant
rs953094 -- 18,960,151(-) ccata(A/G)GGGCC intron-variant
rs953095 -- 18,960,121(-) TTCTA(A/G)GTCGT intron-variant
rs1509069 -- 18,951,775(-) TAAAA(C/G)AATTC intron-variant
rs2238933 -- 18,898,304(-) AGCGG(C/T)GGGGA intron-variant

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

Variant ID Type Subtype PubMed ID
esv33517 CNV Loss 17666407
esv2752317 CNV Gain 17911159
nsv508754 CNV Insertion 20534489
nsv6823 CNV Insertion 18451855

Relevant External Links for PHKA2 Gene

HapMap Linkage Disequilibrium report
PHKA2
Human Gene Mutation Database (HGMD)
PHKA2
Locus Specific Mutation Databases (LSDB)
PHKA2

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

Disorders for PHKA2 Gene

(1) OMIM Diseases for PHKA2 Gene (300798)

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.

(2) University of Copenhagen DISEASES for PHKA2 Gene

(4) Novoseek inferred disease relationships for PHKA2 Gene

Disease -log(P) Hits PubMed IDs
glycogen storage disease 91.7 28
glycogen storage disease type i 63.3 2
myopathy 33.8 6
cirrhosis 8.82 2

Relevant External Links for PHKA2

Genetic Association Database (GAD)
PHKA2
Human Genome Epidemiology (HuGE) Navigator
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. X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. (PMID: 7847371) van den Berg I.E.T. … Berger R. (Am. J. Hum. Genet. 1995) 3 4 23
  2. 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. (PMID: 7549948) Hirono H. … Takada G. (Biochem. Mol. Biol. Int. 1995) 3 4 23
  3. The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution. (PMID: 8226841) Wuellrich A. … Kilimann M.W. (J. Biol. Chem. 1993) 3 4 23
  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 P.J. (Hum. Mol. Genet. 1996) 3 4 23
  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 M.W. (Hum. Mol. Genet. 1996) 3 4 23

Products for PHKA2 Gene

  • Addgene plasmids for PHKA2

Sources for PHKA2 Gene

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