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PHKA2 (phosphorylase kinase, alpha 2 (liver))

Identity

Other namesGSD9A
PHK
PYK
PYKL
XLG
XLG2
HGNC (Hugo) PHKA2
LocusID (NCBI) 5256
Atlas_Id 41705
Location Xp22.13
Location_base_pair Starts at 18910416 and ends at 19002480 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CDKL5 (Xp22.13) / PHKA2 (Xp22.13)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Glycogen storage disease type I (GSD I)

External links

Nomenclature
HGNC (Hugo)PHKA2   8926
Cards
Entrez_Gene (NCBI)PHKA2  5256  phosphorylase kinase, alpha 2 (liver)
GeneCards (Weizmann)PHKA2
Ensembl hg19 (Hinxton)ENSG00000044446 [Gene_View]  chrX:18910416-19002480 [Contig_View]  PHKA2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000044446 [Gene_View]  chrX:18910416-19002480 [Contig_View]  PHKA2 [Vega]
ICGC DataPortalENSG00000044446
TCGA cBioPortalPHKA2
AceView (NCBI)PHKA2
Genatlas (Paris)PHKA2
WikiGenes5256
SOURCE (Princeton)PHKA2
Genomic and cartography
GoldenPath hg19 (UCSC)PHKA2  -     chrX:18910416-19002480 -  Xp22.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PHKA2  -     Xp22.13   [Description]    (hg38-Dec_2013)
EnsemblPHKA2 - Xp22.13 [CytoView hg19]  PHKA2 - Xp22.13 [CytoView hg38]
Mapping of homologs : NCBIPHKA2 [Mapview hg19]  PHKA2 [Mapview hg38]
OMIM300798   306000   
Gene and transcription
Genbank (Entrez)AK056812 AK092480 AK289996 AY429559 AY429560
RefSeq transcript (Entrez)NM_000292
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_016622 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)PHKA2
Cluster EST : UnigeneHs.54941 [ NCBI ]
CGAP (NCI)Hs.54941
Alternative Splicing : Fast-db (Paris)GSHG0032000
Alternative Splicing GalleryENSG00000044446
Gene ExpressionPHKA2 [ NCBI-GEO ]   PHKA2 [ EBI - ARRAY_EXPRESS ]   PHKA2 [ SEEK ]   PHKA2 [ MEM ]
Gene Expression Viewer (FireBrowse)PHKA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)5256
Protein : pattern, domain, 3D structure
UniProt/SwissProtP46019 (Uniprot)
NextProtP46019  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP46019
Splice isoforms : SwissVarP46019 (Swissvar)
PhosPhoSitePlusP46019
Domains : Interpro (EBI)6-hairpin_glycosidase-like    6hp_glycosidase    Glyco_hydro_15/PHK    PHK_A/B_su   
Domain families : Pfam (Sanger)Glyco_hydro_15 (PF00723)   
Domain families : Pfam (NCBI)pfam00723   
DMDM Disease mutations5256
Blocks (Seattle)PHKA2
SuperfamilyP46019
Human Protein AtlasENSG00000044446
Peptide AtlasP46019
HPRD02380
IPIIPI00004237   IPI00980883   
Protein Interaction databases
DIP (DOE-UCLA)P46019
IntAct (EBI)P46019
FunCoupENSG00000044446
BioGRIDPHKA2
STRING (EMBL)PHKA2
ZODIACPHKA2
Ontologies - Pathways
QuickGOP46019
Ontology : AmiGOphosphorylase kinase activity  calmodulin binding  cytosol  plasma membrane  phosphorylase kinase complex  carbohydrate metabolic process  glycogen catabolic process  generation of precursor metabolites and energy  cellular protein modification process  protein phosphorylation  
Ontology : EGO-EBIphosphorylase kinase activity  calmodulin binding  cytosol  plasma membrane  phosphorylase kinase complex  carbohydrate metabolic process  glycogen catabolic process  generation of precursor metabolites and energy  cellular protein modification process  protein phosphorylation  
Pathways : KEGGCalcium signaling pathway    Insulin signaling pathway   
NDEx Network
Atlas of Cancer Signalling NetworkPHKA2
Wikipedia pathwaysPHKA2
Orthology - Evolution
OrthoDB5256
GeneTree (enSembl)ENSG00000044446
Phylogenetic Trees/Animal Genes : TreeFamPHKA2
Homologs : HomoloGenePHKA2
Homology/Alignments : Family Browser (UCSC)PHKA2
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPHKA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHKA2
dbVarPHKA2
ClinVarPHKA2
1000_GenomesPHKA2 
Exome Variant ServerPHKA2
ExAC (Exome Aggregation Consortium)PHKA2 (select the gene name)
SNP (GeneSNP Utah)PHKA2
SNP : HGBasePHKA2
Genetic variants : HAPMAPPHKA2
Genomic Variants (DGV)PHKA2 [DGVbeta]
Mutations
ICGC Data PortalPHKA2 
TCGA Data PortalPHKA2 
Broad Tumor PortalPHKA2
OASIS PortalPHKA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHKA2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch PHKA2
DgiDB (Drug Gene Interaction Database)PHKA2
DoCM (Curated mutations)PHKA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHKA2 (select a term)
intoGenPHKA2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:18910416-19002480
CONAN: Copy Number AnalysisPHKA2 
Mutations and Diseases : HGMDPHKA2
OMIM300798    306000   
MedgenPHKA2
Genetic Testing Registry PHKA2
NextProtP46019 [Medical]
TSGene5256
GENETestsPHKA2
Huge Navigator PHKA2 [HugePedia]  PHKA2 [HugeCancerGEM]
snp3D : Map Gene to Disease5256
BioCentury BCIQPHKA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5256
Chemical/Pharm GKB GenePA33267
Clinical trialPHKA2
Miscellaneous
canSAR (ICR)PHKA2 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHKA2
GoPubMedPHKA2
iHOPPHKA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sat Apr 16 17:58:35 CEST 2016

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