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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)

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

 

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 [ SEEK ]   PHKA2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP46019 (Uniprot)
NextProtP46019  [Medical]  [Publications]
With graphics : InterProP46019
Splice isoforms : SwissVarP46019 (Swissvar)
Domains : Interpro (EBI)6-hairpin_glycosidase-like    6hp_glycosidase    Glyco_hydro_15    PHK_A/B_su   
Related proteins : CluSTrP46019
Domain families : Pfam (Sanger)Glyco_hydro_15 (PF00723)   
Domain families : Pfam (NCBI)pfam00723   
DMDM Disease mutations5256
Blocks (Seattle)P46019
Human Protein AtlasENSG00000044446
Peptide AtlasP46019
HPRD02380
IPIIPI00004237   IPI00980883   
Protein Interaction databases
DIP (DOE-UCLA)P46019
IntAct (EBI)P46019
FunCoupENSG00000044446
BioGRIDPHKA2
IntegromeDBPHKA2
STRING (EMBL)PHKA2
Ontologies - Pathways
QuickGOP46019
Ontology : AmiGOhydrolase activity, hydrolyzing O-glycosyl compounds  phosphorylase kinase activity  calmodulin binding  cytosol  plasma membrane  phosphorylase kinase complex  carbohydrate metabolic process  glycogen catabolic process  glucose metabolic process  generation of precursor metabolites and energy  cellular protein modification process  protein phosphorylation  pathogenesis  small molecule metabolic process  
Ontology : EGO-EBIhydrolase activity, hydrolyzing O-glycosyl compounds  phosphorylase kinase activity  calmodulin binding  cytosol  plasma membrane  phosphorylase kinase complex  carbohydrate metabolic process  glycogen catabolic process  glucose metabolic process  generation of precursor metabolites and energy  cellular protein modification process  protein phosphorylation  pathogenesis  small molecule metabolic process  
Pathways : KEGGCalcium signaling pathway    Insulin signaling pathway   
Protein Interaction DatabasePHKA2
DoCM (Curated mutations)PHKA2
Wikipedia pathwaysPHKA2
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerPHKA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHKA2
dbVarPHKA2
ClinVarPHKA2
1000_GenomesPHKA2 
Exome Variant ServerPHKA2
SNP (GeneSNP Utah)PHKA2
SNP : HGBasePHKA2
Genetic variants : HAPMAPPHKA2
Genomic Variants (DGV)PHKA2 [DGVbeta]
Mutations
ICGC Data PortalPHKA2 
TCGA Data PortalPHKA2 
Tumor PortalPHKA2
Somatic Mutations in Cancer : COSMICPHKA2 
LOVD (Leiden Open Variation Database)genes/PHKA2
LOVD (Leiden Open Variation Database)genes/PHKA2
LOVD (Leiden Open Variation Database)genes/PHKA2
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
NextProtP46019 [Medical]
GENETestsPHKA2
Disease Genetic AssociationPHKA2
Huge Navigator PHKA2 [HugePedia]  PHKA2 [HugeCancerGEM]
snp3D : Map Gene to Disease5256
DGIdb (Drug Gene Interaction db)PHKA2
BioCentury BCIQPHKA2
General knowledge
Homologs : HomoloGenePHKA2
Homology/Alignments : Family Browser (UCSC)PHKA2
Phylogenetic Trees/Animal Genes : TreeFamPHKA2
Chemical/Protein Interactions : CTD5256
Chemical/Pharm GKB GenePA33267
Clinical trialPHKA2
Cancer Resource (Charite)ENSG00000044446
Other databases
Probes
Litterature
PubMed41 Pubmed reference(s) in 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

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 29 19:06:09 CEST 2015

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