Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PHKG2 (phosphorylase kinase gamma subunit 2)

Identity

Other namesGSD9C
HGNC (Hugo) PHKG2
LocusID (NCBI) 5261
Atlas_Id 41706
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 30759620 and ends at 30772497 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCDC189 (16p11.2) / PHKG2 (16p11.2)ITGAX (16p11.2) / PHKG2 (16p11.2)ITGAX 16p11.2 / PHKG2 16p11.2

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)PHKG2   8931
Cards
Entrez_Gene (NCBI)PHKG2  5261  phosphorylase kinase gamma subunit 2
AliasesGSD9C
GeneCards (Weizmann)PHKG2
Ensembl hg19 (Hinxton)ENSG00000156873 [Gene_View]  chr16:30759620-30772497 [Contig_View]  PHKG2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000156873 [Gene_View]  chr16:30759620-30772497 [Contig_View]  PHKG2 [Vega]
ICGC DataPortalENSG00000156873
TCGA cBioPortalPHKG2
AceView (NCBI)PHKG2
Genatlas (Paris)PHKG2
WikiGenes5261
SOURCE (Princeton)PHKG2
Genomic and cartography
GoldenPath hg19 (UCSC)PHKG2  -     chr16:30759620-30772497 +  16p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PHKG2  -     16p11.2   [Description]    (hg38-Dec_2013)
EnsemblPHKG2 - 16p11.2 [CytoView hg19]  PHKG2 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBIPHKG2 [Mapview hg19]  PHKG2 [Mapview hg38]
OMIM172471   613027   
Gene and transcription
Genbank (Entrez)AB209055 AK055943 AK289492 AK293551 BC002541
RefSeq transcript (Entrez)NM_000294 NM_001172432
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_016616 NT_187260 NW_004929400
Consensus coding sequences : CCDS (NCBI)PHKG2
Cluster EST : UnigeneHs.65735 [ NCBI ]
CGAP (NCI)Hs.65735
Alternative Splicing GalleryENSG00000156873
Gene ExpressionPHKG2 [ NCBI-GEO ]   PHKG2 [ EBI - ARRAY_EXPRESS ]   PHKG2 [ SEEK ]   PHKG2 [ MEM ]
Gene Expression Viewer (FireBrowse)PHKG2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5261
GTEX Portal (Tissue expression)PHKG2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15735 (Uniprot)
NextProtP15735  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15735
Splice isoforms : SwissVarP15735 (Swissvar)
Catalytic activity : Enzyme2.7.11.19 [ Enzyme-Expasy ]   2.7.11.192.7.11.19 [ IntEnz-EBI ]   2.7.11.19 [ BRENDA ]   2.7.11.19 [ KEGG ]   
PhosPhoSitePlusP15735
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Ca/CaM-dep_Ca-dep_prot_Kinase    Kinase-like_dom    Phosph_kin_gamma    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_dual-sp_kinase    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
DMDM Disease mutations5261
Blocks (Seattle)PHKG2
PDB (SRS)2Y7J   
PDB (PDBSum)2Y7J   
PDB (IMB)2Y7J   
PDB (RSDB)2Y7J   
Structural Biology KnowledgeBase2Y7J   
SCOP (Structural Classification of Proteins)2Y7J   
CATH (Classification of proteins structures)2Y7J   
SuperfamilyP15735
Human Protein AtlasENSG00000156873
Peptide AtlasP15735
HPRD01405
IPIIPI00012891   IPI00514007   IPI00956068   
Protein Interaction databases
DIP (DOE-UCLA)P15735
IntAct (EBI)P15735
FunCoupENSG00000156873
BioGRIDPHKG2
STRING (EMBL)PHKG2
ZODIACPHKG2
Ontologies - Pathways
QuickGOP15735
Ontology : AmiGOprotein serine/threonine kinase activity  phosphorylase kinase activity  calmodulin binding  ATP binding  cellular_component  cytosol  phosphorylase kinase complex  glycogen metabolic process  glycogen biosynthetic process  glycogen catabolic process  generation of precursor metabolites and energy  protein phosphorylation  enzyme binding  positive regulation of glycogen catabolic process  tau-protein kinase activity  
Ontology : EGO-EBIprotein serine/threonine kinase activity  phosphorylase kinase activity  calmodulin binding  ATP binding  cellular_component  cytosol  phosphorylase kinase complex  glycogen metabolic process  glycogen biosynthetic process  glycogen catabolic process  generation of precursor metabolites and energy  protein phosphorylation  enzyme binding  positive regulation of glycogen catabolic process  tau-protein kinase activity  
Pathways : KEGGCalcium signaling pathway    Insulin signaling pathway   
NDEx Network
Atlas of Cancer Signalling NetworkPHKG2
Wikipedia pathwaysPHKG2
Orthology - Evolution
OrthoDB5261
GeneTree (enSembl)ENSG00000156873
Phylogenetic Trees/Animal Genes : TreeFamPHKG2
Homologs : HomoloGenePHKG2
Homology/Alignments : Family Browser (UCSC)PHKG2
Gene fusions - Rearrangements
Fusion: TCGAITGAX 16p11.2 PHKG2 16p11.2 BLCA
Polymorphisms : SNP, variants
NCBI Variation ViewerPHKG2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHKG2
dbVarPHKG2
ClinVarPHKG2
1000_GenomesPHKG2 
Exome Variant ServerPHKG2
ExAC (Exome Aggregation Consortium)PHKG2 (select the gene name)
Genetic variants : HAPMAP5261
Genomic Variants (DGV)PHKG2 [DGVbeta]
Mutations
ICGC Data PortalPHKG2 
TCGA Data PortalPHKG2 
Broad Tumor PortalPHKG2
OASIS PortalPHKG2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHKG2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch PHKG2
DgiDB (Drug Gene Interaction Database)PHKG2
DoCM (Curated mutations)PHKG2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHKG2 (select a term)
intoGenPHKG2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:30759620-30772497  ENSG00000156873
CONAN: Copy Number AnalysisPHKG2 
Mutations and Diseases : HGMDPHKG2
OMIM172471    613027   
MedgenPHKG2
Genetic Testing Registry PHKG2
NextProtP15735 [Medical]
TSGene5261
GENETestsPHKG2
Huge Navigator PHKG2 [HugePedia]
snp3D : Map Gene to Disease5261
BioCentury BCIQPHKG2
ClinGenPHKG2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5261
Chemical/Pharm GKB GenePA33272
Clinical trialPHKG2
Miscellaneous
canSAR (ICR)PHKG2 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHKG2
EVEXPHKG2
GoPubMedPHKG2
iHOPPHKG2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 9 19:07:04 CEST 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.