Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NPAS2 (neuronal PAS domain protein 2)

Identity

Other namesMOP4
PASD4
bHLHe9
HGNC (Hugo) NPAS2
LocusID (NCBI) 4862
Location 2q11.2
Location_base_pair Starts at 101436613 and ends at 101613287 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)NPAS2   7895
Cards
Entrez_Gene (NCBI)NPAS2  4862  neuronal PAS domain protein 2
GeneCards (Weizmann)NPAS2
Ensembl (Hinxton)ENSG00000170485 [Gene_View]  chr2:101436613-101613287 [Contig_View]  NPAS2 [Vega]
ICGC DataPortalENSG00000170485
AceView (NCBI)NPAS2
Genatlas (Paris)NPAS2
WikiGenes4862
SOURCE (Princeton)NM_002518
Genomic and cartography
GoldenPath (UCSC)NPAS2  -  2q11.2   chr2:101436613-101613287 +  2q11.2   [Description]    (hg19-Feb_2009)
EnsemblNPAS2 - 2q11.2 [CytoView]
Mapping of homologs : NCBINPAS2 [Mapview]
OMIM603347   
Gene and transcription
Genbank (Entrez)AK026791 AK091939 AK095806 AK128586 AK226093
RefSeq transcript (Entrez)NM_002518
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_023259 NT_005403 NW_001838818 NW_004929303
Consensus coding sequences : CCDS (NCBI)NPAS2
Cluster EST : UnigeneHs.705895 [ NCBI ]
CGAP (NCI)Hs.705895
Alternative Splicing : Fast-db (Paris)GSHG0016712
Alternative Splicing GalleryENSG00000170485
Gene ExpressionNPAS2 [ NCBI-GEO ]     NPAS2 [ SEEK ]   NPAS2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99743 (Uniprot)
NextProtQ99743  [Medical]
With graphics : InterProQ99743
Splice isoforms : SwissVarQ99743 (Swissvar)
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    PAS (PS50112)   
Domains : Interpro (EBI)bHLH_dom    Nuc_translocat    PAC    PAS    PAS_fold   
Related proteins : CluSTrQ99743
Domain families : Pfam (Sanger)HLH (PF00010)    PAS (PF00989)   
Domain families : Pfam (NCBI)pfam00010    pfam00989   
Domain families : Smart (EMBL)HLH (SM00353)  PAC (SM00086)  PAS (SM00091)  
DMDM Disease mutations4862
Blocks (Seattle)Q99743
Human Protein AtlasENSG00000170485
Peptide AtlasQ99743
HPRD09137
IPIIPI00956556   IPI00916781   IPI00386144   IPI00746650   IPI00915815   IPI00915931   IPI00917145   IPI00917334   
Protein Interaction databases
DIP (DOE-UCLA)Q99743
IntAct (EBI)Q99743
FunCoupENSG00000170485
BioGRIDNPAS2
InParanoidQ99743
Interologous Interaction database Q99743
IntegromeDBNPAS2
STRING (EMBL)NPAS2
Ontologies - Pathways
Ontology : AmiGOcore promoter binding  DNA binding  DNA binding  sequence-specific DNA binding transcription factor activity  signal transducer activity  protein binding  nucleus  transcription factor complex  cytosol  transcription, DNA-templated  cellular response to DNA damage stimulus  signal transduction  central nervous system development  circadian regulation of gene expression  circadian sleep/wake cycle  cellular lipid metabolic process  small molecule metabolic process  locomotor rhythm  positive regulation of DNA repair  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  protein dimerization activity  response to redox state  Hsp90 protein binding  negative regulation of cell death  regulation of response to DNA damage stimulus  
Ontology : EGO-EBIcore promoter binding  DNA binding  DNA binding  sequence-specific DNA binding transcription factor activity  signal transducer activity  protein binding  nucleus  transcription factor complex  cytosol  transcription, DNA-templated  cellular response to DNA damage stimulus  signal transduction  central nervous system development  circadian regulation of gene expression  circadian sleep/wake cycle  cellular lipid metabolic process  small molecule metabolic process  locomotor rhythm  positive regulation of DNA repair  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  protein dimerization activity  response to redox state  Hsp90 protein binding  negative regulation of cell death  regulation of response to DNA damage stimulus  
Pathways : KEGGCircadian rhythm   
Protein Interaction DatabaseNPAS2
Wikipedia pathwaysNPAS2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NPAS2
SNP (GeneSNP Utah)NPAS2
SNP : HGBaseNPAS2
Genetic variants : HAPMAPNPAS2
1000_GenomesNPAS2 
ICGC programENSG00000170485 
CONAN: Copy Number AnalysisNPAS2 
Somatic Mutations in Cancer : COSMICNPAS2 
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
Mutations and Diseases : HGMDNPAS2
OMIM603347   
MedgenNPAS2
GENETestsNPAS2
Disease Genetic AssociationNPAS2
Huge Navigator NPAS2 [HugePedia]  NPAS2 [HugeCancerGEM]
Genomic VariantsNPAS2  NPAS2 [DGVbeta]
Exome VariantNPAS2
dbVarNPAS2
ClinVarNPAS2
snp3D : Map Gene to Disease4862
General knowledge
Homologs : HomoloGeneNPAS2
Homology/Alignments : Family Browser (UCSC)NPAS2
Phylogenetic Trees/Animal Genes : TreeFamNPAS2
Chemical/Protein Interactions : CTD4862
Chemical/Pharm GKB GenePA31696
Clinical trialNPAS2
Cancer Resource (Charite)ENSG00000170485
Other databases
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
CoreMineNPAS2
iHOPNPAS2
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 13:04:56 CEST 2014

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