Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PHKB (phosphorylase kinase regulatory subunit beta)

Identity

Alias_namesphosphorylase kinase, beta
Other alias-
HGNC (Hugo) PHKB
LocusID (NCBI) 5257
Atlas_Id 71889
Location 16q12.1  [Link to chromosome band 16q12]
Location_base_pair Starts at 47461299 and ends at 47701523 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ITFG1 (16q12.1) / PHKB (16q12.1)PHKB (16q12.1) / FAR1 (11p15.2)PHKB (16q12.1) / LOC100093631 ()
PHKB (16q12.1) / PDE3A (12p12.2)PHKB (16q12.1) / ZNF841 (19q13.41)SLC23A2 (20p13) / PHKB (16q12.1)
TOX3 (16q12.1) / PHKB (16q12.1)VPS35 (16q11.2) / PHKB (16q12.1)VPS35 PHKB
TOX3 PHKBSLC23A2 PHKBITFG1 PHKB

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)PHKB   8927
Cards
Entrez_Gene (NCBI)PHKB  5257  phosphorylase kinase regulatory subunit beta
Aliases
GeneCards (Weizmann)PHKB
Ensembl hg19 (Hinxton)ENSG00000102893 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102893 [Gene_View]  chr16:47461299-47701523 [Contig_View]  PHKB [Vega]
ICGC DataPortalENSG00000102893
TCGA cBioPortalPHKB
AceView (NCBI)PHKB
Genatlas (Paris)PHKB
WikiGenes5257
SOURCE (Princeton)PHKB
Genetics Home Reference (NIH)PHKB
Genomic and cartography
GoldenPath hg38 (UCSC)PHKB  -     chr16:47461299-47701523 +  16q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHKB  -     16q12.1   [Description]    (hg19-Feb_2009)
EnsemblPHKB - 16q12.1 [CytoView hg19]  PHKB - 16q12.1 [CytoView hg38]
Mapping of homologs : NCBIPHKB [Mapview hg19]  PHKB [Mapview hg38]
OMIM172490   261750   
Gene and transcription
Genbank (Entrez)AK123692 AK293122 AK309226 BC033657 CR936710
RefSeq transcript (Entrez)NM_000293 NM_001031835
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHKB
Cluster EST : UnigeneHs.78060 [ NCBI ]
CGAP (NCI)Hs.78060
Alternative Splicing GalleryENSG00000102893
Gene ExpressionPHKB [ NCBI-GEO ]   PHKB [ EBI - ARRAY_EXPRESS ]   PHKB [ SEEK ]   PHKB [ MEM ]
Gene Expression Viewer (FireBrowse)PHKB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5257
GTEX Portal (Tissue expression)PHKB
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ93100   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ93100  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ93100
Splice isoforms : SwissVarQ93100
PhosPhoSitePlusQ93100
Domains : Interpro (EBI)6-hairpin_glycosidase-like    Glyco_hydro_15/PHK    PHK_A/B_su   
Domain families : Pfam (Sanger)Glyco_hydro_15 (PF00723)   
Domain families : Pfam (NCBI)pfam00723   
Conserved Domain (NCBI)PHKB
DMDM Disease mutations5257
Blocks (Seattle)PHKB
SuperfamilyQ93100
Human Protein AtlasENSG00000102893
Peptide AtlasQ93100
HPRD01407
IPIIPI00218571   IPI00514085   IPI00514327   IPI00181893   IPI00902470   
Protein Interaction databases
DIP (DOE-UCLA)Q93100
IntAct (EBI)Q93100
FunCoupENSG00000102893
BioGRIDPHKB
STRING (EMBL)PHKB
ZODIACPHKB
Ontologies - Pathways
QuickGOQ93100
Ontology : AmiGOphosphorylase kinase activity  protein binding  calmodulin binding  cytosol  plasma membrane  phosphorylase kinase complex  glycogen metabolic process  glycogen catabolic process  generation of precursor metabolites and energy  protein phosphorylation  
Ontology : EGO-EBIphosphorylase kinase activity  protein binding  calmodulin binding  cytosol  plasma membrane  phosphorylase kinase complex  glycogen metabolic process  glycogen catabolic process  generation of precursor metabolites and energy  protein phosphorylation  
Pathways : KEGGCalcium signaling pathway    Insulin signaling pathway   
NDEx NetworkPHKB
Atlas of Cancer Signalling NetworkPHKB
Wikipedia pathwaysPHKB
Orthology - Evolution
OrthoDB5257
GeneTree (enSembl)ENSG00000102893
Phylogenetic Trees/Animal Genes : TreeFamPHKB
HOVERGENQ93100
HOGENOMQ93100
Homologs : HomoloGenePHKB
Homology/Alignments : Family Browser (UCSC)PHKB
Gene fusions - Rearrangements
Fusion: TCGAVPS35 PHKB
Fusion: TCGATOX3 PHKB
Fusion: TCGASLC23A2 PHKB
Fusion: TCGAITFG1 PHKB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHKB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHKB
dbVarPHKB
ClinVarPHKB
1000_GenomesPHKB 
Exome Variant ServerPHKB
ExAC (Exome Aggregation Consortium)PHKB (select the gene name)
Genetic variants : HAPMAP5257
Genomic Variants (DGV)PHKB [DGVbeta]
DECIPHERPHKB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHKB 
Mutations
ICGC Data PortalPHKB 
TCGA Data PortalPHKB 
Broad Tumor PortalPHKB
OASIS PortalPHKB [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDPHKB
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 PHKB
DgiDB (Drug Gene Interaction Database)PHKB
DoCM (Curated mutations)PHKB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHKB (select a term)
intoGenPHKB
Cancer3DPHKB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM172490    261750   
Orphanet11266   
MedgenPHKB
Genetic Testing Registry PHKB
NextProtQ93100 [Medical]
TSGene5257
GENETestsPHKB
Target ValidationPHKB
Huge Navigator PHKB [HugePedia]
snp3D : Map Gene to Disease5257
BioCentury BCIQPHKB
ClinGenPHKB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5257
Chemical/Pharm GKB GenePA33268
Clinical trialPHKB
Miscellaneous
canSAR (ICR)PHKB (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHKB
EVEXPHKB
GoPubMedPHKB
iHOPPHKB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:36:16 CEST 2017

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