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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, ... See more...
Aliases for PHKA2 Gene
Aliases for PHKA2 Gene
External Ids for PHKA2 Gene
- HGNC: 8926
- Entrez Gene: 5256
- Ensembl: ENSG00000044446
- OMIM: 300798
- UniProtKB: P46019
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
-
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 Activation of cAMP-Dependent PKA and Calcium signaling pathway. 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 Summary for PHKA2 Gene
-
Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.
Additional gene information for PHKA2 Gene
- HGNC(8926)
- Entrez Gene(5256)
- Ensembl(ENSG00000044446)
- OMIM(300798)
- UniProtKB(P46019)
- Open Targets Platform(ENSG00000044446)
- Monarch Initiative
- Search for PHKA2 at DataMed
- Search for PHKA2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHKA2 Gene
Genomics for PHKA2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PHKA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PHKA2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHKA2
- Top Transcription factor binding sites by QIAGEN in the PHKA2 gene promoter:
-
- aMEF-2
- GATA-1
- MEF-2A
- NRSF form 1
- NRSF form 2
- POU2F1
- POU2F1a
- RORalpha2
Genomic Locations for PHKA2 Gene
Genomic Locations for PHKA2 Gene
- chrX:18,892,298-18,984,114
- (GRCh38/hg38)
- Size:
- 91,817 bases
- Orientation:
- Minus strand
- chrX:18,910,416-19,002,716
- (GRCh37/hg19)
- 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:
-
- Xp22.13 by HGNC
- Xp22.13 by Entrez Gene
- Xp22.13 by Ensembl
PHKA2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-PHKA2 monoclonal antibody
- Creative Biolabs Mouse Anti-PHKA2 Recombinant Antibody (1D4)
- Novus Biologicals Antibodies for PHKA2
- Invitrogen Antibodies for PHKA2 (AFLGC-Phka2)
-
Biorbyt antibodies for PHKA2
-
Santa Cruz Biotechnology (SCBT) Antibodies for PHKA2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PHKA2
- Origene Custom Protein Services for PHKA2
-
Abcam proteins for PHKA2
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
- InterPro:
- Blocks:
-
- Phosphorylase kinase alphabeta
- ProtoNet:
Suggested Antigen Peptide Sequences for PHKA2 Gene
- GenScript: Design optimal peptide antigens:
-
- Phosphorylase b kinase regulatory subunit alpha, liver isoform (KPB2_HUMAN)
- Phosphorylase kinase alpha-subunit (O60912_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P46019- Family:
-
- Belongs to the phosphorylase b kinase regulatory chain family.
Function for PHKA2 Gene
Molecular function for PHKA2 Gene
- UniProtKB/Swiss-Prot Function:
- Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- By phosphorylation of various serine residues and by calcium.
- GENATLAS Biochemistry:
- phosphorylase kinase,alpha 2 subunit,liver,glycogen catabolism
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004689 | phosphorylase kinase activity | IBA,TAS | 7549948 |
| GO:0005515 | protein binding | IPI | 23455922 |
| GO:0005516 | calmodulin binding | IEA | -- |
Phenotypes for PHKA2 Gene
- GenomeRNAi human phenotypes for PHKA2:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Increased cell death HMECs cells
- shRNA abundance <= 50%
- Increased apoptosis
- Decreased viability
- Increased transferrin (TF) endocytosis
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased viability in colon lineage
- Increased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PHKA2 - Select products 50% OFF >
- * PHKA2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PHKA2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PHKA2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHKA2
miRNA for PHKA2 Gene
- miRTarBase miRNAs that target PHKA2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PHKA2
- Browse OriGene Inhibitory RNA Products For PHKA2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHKA2
Clone Products
- Applied Biological Materials (abm): Clones for PHKA2 - Select products 50% OFF >
- * PHKA2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PHKA2
- Addgene plasmids for PHKA2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PHKA2
Cell Line Products
-
Horizon Cell Lines for PHKA2
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| cytosol | 4 |
| nucleus | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005964 | phosphorylase kinase complex | TAS,IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for PHKA2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
| 2 | Glucose metabolism | ||
| 3 | Calcium signaling pathway | ||
| 4 | Glucagon signaling pathway | ||
| 5 | Regulation of lipid metabolism Insulin signaling-generic cascades | ||
Pathways by source for PHKA2 Gene
2 BioSystems pathways for PHKA2 Gene
4 Reactome pathways for PHKA2 Gene
3 KEGG pathways for PHKA2 Gene
1 GeneGo (Thomson Reuters) pathway for PHKA2 Gene
- Signal transduction cAMP signaling
4 Qiagen pathways for PHKA2 Gene
- Activation of cAMP-Dependent PKA
- Alpha-Adrenergic Signaling
- cAMP Pathway
- PKA Signaling
UniProtKB/Swiss-Prot P46019-KPB2_HUMAN
- Pathway: Glycan biosynthesis; glycogen metabolism.
Interacting Proteins for PHKA2 Gene
Selected Interacting proteins:
P46019-KPB2_HUMAN
ENSP00000369274
for PHKA2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PHKA2
| 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 |
No data available for SIGNOR curated interactions for PHKA2 Gene
Drugs & Compounds for PHKA2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcium | Nutra | 6556 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for PHKA2 Gene
mRNA/cDNA for PHKA2 Gene
- 1 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000379942 5077 nts (view in UCSC)
- ENST00000464455 500 nts (view in UCSC)
- ENST00000469485 1945 nts (view in UCSC)
- ENST00000469645 728 nts (view in UCSC)
- ENST00000473597 514 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PHKA2 - Select products 50% OFF >
- * PHKA2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PHKA2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PHKA2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHKA2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PHKA2
- Browse OriGene Inhibitory RNA Products For PHKA2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHKA2
Clone Products
- Applied Biological Materials (abm): Clones for PHKA2 - Select products 50% OFF >
- * PHKA2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PHKA2
- Addgene plasmids for PHKA2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PHKA2
| 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
Expression 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).
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, MaxQB, and MOPED for PHKA2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PHKA2
SOURCE GeneReport for Unigene cluster for PHKA2 Gene:
Hs.54941mRNA Expression by UniProt/SwissProt for PHKA2 Gene:
P46019-KPB2_HUMAN
Tissue specificity:
Predominantly expressed in liver and other non-muscle tissues.
Evidence on tissue expression from TISSUES for PHKA2 Gene
- Nervous system(4.6)
- Liver(4.5)
- Intestine(4.4)
- Skin(2.7)
- Lung(2.6)
- Muscle(2.4)
- Blood(2.4)
- Kidney(2.3)
- Heart(2.2)
- Spleen(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PHKA2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- skeletal muscle
- urinary
Regions:
Head and neck:
- brain
- ear
- head
- mouth
- salivary gland
Thorax:
- breast
- esophagus
- heart
Abdomen:
- adrenal gland
- biliary tract
- duodenum
- intestine
- kidney
- liver
- pancreas
- small intestine
- spleen
Pelvis:
- testicle
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood vessel
- coagulation system
- peripheral nerve
- peripheral nervous system
- skin
- sweat gland
Primer Products
-
OriGene qPCR primer pairs for PHKA2
-
OriGene qPCR primer pairs and template standards for PHKA2
Gene Expression Assay Products
Orthologs for PHKA2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PHKA2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PHKA2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PHKA2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PHKA2 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Phka2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Phka2 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PHKA2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PHKA2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PHKA2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | phka2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | PHKA2 31 |
|
OneToOne | |
| LOC556199 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7727 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000708 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG7766 30 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | C14B9.8 30 31 32 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for PHKA2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for PHKA2: view image
Paralogs for PHKA2 Gene
Variants for PHKA2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHKA2 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638443 | Uncertain Significance: Glycogen storage disease type IXa1 | 18,924,477(-) | C/T | MISSENSE_VARIANT | |
| 643025 | Uncertain Significance: Glycogen storage disease type IXa1 | 18,938,691(-) | C/T | MISSENSE_VARIANT | |
| 644261 | Pathogenic/Likely Pathogenic: Glycogen storage disease type IXa1 | 18,954,358(-) | G/A | MISSENSE_VARIANT | |
| 649460 | Pathogenic: Glycogen storage disease type IXa1 | 18,925,691(-) | G/A | NONSENSE | |
| 651936 | Uncertain Significance: Glycogen storage disease type IXa1 | 18,951,212(-) | A/T | MISSENSE_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHKA2 Gene
Disorders for PHKA2 Gene
(12) MalaCards diseases for PHKA2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glycogen storage disease ixa1 |
|
|
| glycogen storage disease due to liver phosphorylase kinase deficiency |
|
|
| glycogen storage disease |
|
|
| glycogen storage disease ixa |
|
|
| glycogen storage disease ia |
|
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.
Additional Disease Information for PHKA2
- Genetic Association Database
- (GAD)
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No data available for Genatlas for PHKA2 Gene
Publications for PHKA2 Gene
- Glycogen storage disease type IX: High variability in clinical phenotype. (PMID: 17689125) Beauchamp NJ … Sharrard M (Molecular genetics and metabolism 2007) 3 4 23
- 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 23
- 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 23
- 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 23
- 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 23
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