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PANK2 (pantothenate kinase 2)

Identity

Alias_namesC20orf48
NBIA1
neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)
Alias_symbol (synonym)HSS
FLJ11729
PKAN
HARP
Other alias
HGNC (Hugo) PANK2
LocusID (NCBI) 80025
Atlas_Id 71648
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 3869486 and ends at 3904502 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COL11A1 (1p21.1) / PANK2 (20p13)EPS15L1 (19p13.11) / PANK2 (20p13)PANK2 (20p13) / ACACB (12q24.11)
PANK2 (20p13) / MAVS (20p13)PANK2 (20p13) / PANK2 (20p13)PANK2 (20p13) / VAMP3 (1p36.23)

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)PANK2   15894
LRG (Locus Reference Genomic)LRG_1016
Cards
Entrez_Gene (NCBI)PANK2  80025  pantothenate kinase 2
AliasesC20orf48; HARP; HSS; NBIA1; 
PKAN
GeneCards (Weizmann)PANK2
Ensembl hg19 (Hinxton)ENSG00000125779 [Gene_View]  chr20:3869486-3904502 [Contig_View]  PANK2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000125779 [Gene_View]  chr20:3869486-3904502 [Contig_View]  PANK2 [Vega]
ICGC DataPortalENSG00000125779
TCGA cBioPortalPANK2
AceView (NCBI)PANK2
Genatlas (Paris)PANK2
WikiGenes80025
SOURCE (Princeton)PANK2
Genetics Home Reference (NIH)PANK2
Genomic and cartography
GoldenPath hg19 (UCSC)PANK2  -     chr20:3869486-3904502 +  20p13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PANK2  -     20p13   [Description]    (hg38-Dec_2013)
EnsemblPANK2 - 20p13 [CytoView hg19]  PANK2 - 20p13 [CytoView hg38]
Mapping of homologs : NCBIPANK2 [Mapview hg19]  PANK2 [Mapview hg38]
OMIM234200   606157   607236   
Gene and transcription
Genbank (Entrez)AF086501 AF494409 AK021791 AK097796 AK310190
RefSeq transcript (Entrez)NM_024960 NM_153637 NM_153638 NM_153639 NM_153640 NM_153641
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_008131 NT_011387 NW_004929416
Consensus coding sequences : CCDS (NCBI)PANK2
Cluster EST : UnigeneHs.516859 [ NCBI ]
CGAP (NCI)Hs.516859
Alternative Splicing GalleryENSG00000125779
Gene ExpressionPANK2 [ NCBI-GEO ]   PANK2 [ EBI - ARRAY_EXPRESS ]   PANK2 [ SEEK ]   PANK2 [ MEM ]
Gene Expression Viewer (FireBrowse)PANK2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80025
GTEX Portal (Tissue expression)PANK2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZ23   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BZ23  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BZ23
Splice isoforms : SwissVarQ9BZ23
Catalytic activity : Enzyme2.7.1.33 [ Enzyme-Expasy ]   2.7.1.332.7.1.33 [ IntEnz-EBI ]   2.7.1.33 [ BRENDA ]   2.7.1.33 [ KEGG ]   
PhosPhoSitePlusQ9BZ23
Domains : Interpro (EBI)Type_II_PanK   
Domain families : Pfam (Sanger)Fumble (PF03630)   
Domain families : Pfam (NCBI)pfam03630   
Conserved Domain (NCBI)PANK2
DMDM Disease mutations80025
Blocks (Seattle)PANK2
SuperfamilyQ9BZ23
Human Protein AtlasENSG00000125779
Peptide AtlasQ9BZ23
IPIIPI00171176   IPI00550398   IPI00556350   IPI00954590   IPI01013462   
Protein Interaction databases
DIP (DOE-UCLA)Q9BZ23
IntAct (EBI)Q9BZ23
FunCoupENSG00000125779
BioGRIDPANK2
STRING (EMBL)PANK2
ZODIACPANK2
Ontologies - Pathways
QuickGOQ9BZ23
Ontology : AmiGOpantothenate kinase activity  ATP binding  mitochondrion  mitochondrial intermembrane space  cytosol  vitamin metabolic process  water-soluble vitamin metabolic process  spermatid development  aerobic respiration  coenzyme biosynthetic process  coenzyme A biosynthetic process  coenzyme A biosynthetic process  pantothenate metabolic process  pantothenate metabolic process  phosphorylation  regulation of fatty acid metabolic process  small molecule metabolic process  regulation of mitochondrial membrane potential  mitochondrion morphogenesis  regulation of triglyceride metabolic process  regulation of bile acid metabolic process  
Ontology : EGO-EBIpantothenate kinase activity  ATP binding  mitochondrion  mitochondrial intermembrane space  cytosol  vitamin metabolic process  water-soluble vitamin metabolic process  spermatid development  aerobic respiration  coenzyme biosynthetic process  coenzyme A biosynthetic process  coenzyme A biosynthetic process  pantothenate metabolic process  pantothenate metabolic process  phosphorylation  regulation of fatty acid metabolic process  small molecule metabolic process  regulation of mitochondrial membrane potential  mitochondrion morphogenesis  regulation of triglyceride metabolic process  regulation of bile acid metabolic process  
Pathways : KEGGPantothenate and CoA biosynthesis   
NDEx NetworkPANK2
Atlas of Cancer Signalling NetworkPANK2
Wikipedia pathwaysPANK2
Orthology - Evolution
OrthoDB80025
GeneTree (enSembl)ENSG00000125779
Phylogenetic Trees/Animal Genes : TreeFamPANK2
HOVERGENQ9BZ23
HOGENOMQ9BZ23
Homologs : HomoloGenePANK2
Homology/Alignments : Family Browser (UCSC)PANK2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPANK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PANK2
dbVarPANK2
ClinVarPANK2
1000_GenomesPANK2 
Exome Variant ServerPANK2
ExAC (Exome Aggregation Consortium)PANK2 (select the gene name)
Genetic variants : HAPMAP80025
Genomic Variants (DGV)PANK2 [DGVbeta]
DECIPHER (Syndromes)20:3869486-3904502  ENSG00000125779
CONAN: Copy Number AnalysisPANK2 
Mutations
ICGC Data PortalPANK2 
TCGA Data PortalPANK2 
Broad Tumor PortalPANK2
OASIS PortalPANK2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPANK2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPANK2
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)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PANK2
DgiDB (Drug Gene Interaction Database)PANK2
DoCM (Curated mutations)PANK2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PANK2 (select a term)
intoGenPANK2
Cancer3DPANK2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM234200    606157    607236   
Orphanet18796    18797   
MedgenPANK2
Genetic Testing Registry PANK2
NextProtQ9BZ23 [Medical]
TSGene80025
GENETestsPANK2
Huge Navigator PANK2 [HugePedia]
snp3D : Map Gene to Disease80025
BioCentury BCIQPANK2
ClinGenPANK2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80025
Chemical/Pharm GKB GenePA38048
Clinical trialPANK2
Miscellaneous
canSAR (ICR)PANK2 (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePANK2
EVEXPANK2
GoPubMedPANK2
iHOPPANK2
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 Mar 14 12:37:44 CET 2017

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