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NPAS3 (neuronal PAS domain protein 3)

Identity

Alias (NCBI)MOP6
PASD6
bHLHe12
HGNC (Hugo) NPAS3
HGNC Alias symbMOP6
PASD6
bHLHe12
LocusID (NCBI) 64067
Atlas_Id 54508
Location 14q13.1  [Link to chromosome band 14q13]
Location_base_pair Starts at 32938879 and ends at 33804173 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARID4A (14q23.1) / NPAS3 (14q13.1)FAM114A1 (4p14) / NPAS3 (14q13.1)FOXG1 (14q12) / NPAS3 (14q13.1)
MIPOL1 (14q13.3) / NPAS3 (14q13.1)NPAS3 (14q13.1) / AKAP6 (14q12)NPAS3 (14q13.1) / NPAS3 (14q13.1)
NPAS3 (14q13.1) / OXA1L (14q11.2)RGS6 (14q24.2) / NPAS3 (14q13.1)RP11-468E2.1 () / NPAS3 (14q13.1)
SMO (7q32.1) / NPAS3 (14q13.1)ARID4A 14q23.1 / NPAS3 14q13.1MIPOL1 14q13.3 / NPAS3 14q13.1
NPAS3 14q13.1 / AKAP6 14q12RGS6 14q24.2 / NPAS3 14q13.1RP11-468E2.1 NPAS3 14q13.1

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)NPAS3   19311
Cards
Entrez_Gene (NCBI)NPAS3    neuronal PAS domain protein 3
AliasesMOP6; PASD6; bHLHe12
GeneCards (Weizmann)NPAS3
Ensembl hg19 (Hinxton)ENSG00000151322 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151322 [Gene_View]  ENSG00000151322 [Sequence]  chr14:32938879-33804173 [Contig_View]  NPAS3 [Vega]
ICGC DataPortalENSG00000151322
TCGA cBioPortalNPAS3
AceView (NCBI)NPAS3
Genatlas (Paris)NPAS3
SOURCE (Princeton)NPAS3
Genetics Home Reference (NIH)NPAS3
Genomic and cartography
GoldenPath hg38 (UCSC)NPAS3  -     chr14:32938879-33804173 +  14q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPAS3  -     14q13.1   [Description]    (hg19-Feb_2009)
GoldenPathNPAS3 - 14q13.1 [CytoView hg19]  NPAS3 - 14q13.1 [CytoView hg38]
ImmunoBaseENSG00000151322
Genome Data Viewer NCBINPAS3 [Mapview hg19]  
OMIM609430   
Gene and transcription
Genbank (Entrez)AB054575 AB054576 AB055962 AF164438 AI811363
RefSeq transcript (Entrez)NM_001164749 NM_001165893 NM_001394988 NM_001394989 NM_022123 NM_173159
Consensus coding sequences : CCDS (NCBI)NPAS3
Gene ExpressionNPAS3 [ NCBI-GEO ]   NPAS3 [ EBI - ARRAY_EXPRESS ]   NPAS3 [ SEEK ]   NPAS3 [ MEM ]
Gene Expression Viewer (FireBrowse)NPAS3 [ Firebrowse - Broad ]
GenevisibleExpression of NPAS3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64067
GTEX Portal (Tissue expression)NPAS3
Human Protein AtlasENSG00000151322-NPAS3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IXF0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IXF0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IXF0
PhosPhoSitePlusQ8IXF0
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    PAS (PS50112)   
Domains : Interpro (EBI)bHLH_dom    HLH_DNA-bd_sf    PAS    PAS-like_dom_sf    PAS_fold    PAS_fold_3   
Domain families : Pfam (Sanger)PAS (PF00989)    PAS_3 (PF08447)   
Domain families : Pfam (NCBI)pfam00989    pfam08447   
Domain families : Smart (EMBL)HLH (SM00353)  PAS (SM00091)  
Conserved Domain (NCBI)NPAS3
SuperfamilyQ8IXF0
AlphaFold pdb e-kbQ8IXF0   
Human Protein Atlas [tissue]ENSG00000151322-NPAS3 [tissue]
HPRD11400
Protein Interaction databases
DIP (DOE-UCLA)Q8IXF0
IntAct (EBI)Q8IXF0
BioGRIDNPAS3
STRING (EMBL)NPAS3
ZODIACNPAS3
Ontologies - Pathways
QuickGOQ8IXF0
Ontology : AmiGOchromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  nucleoplasm  regulation of transcription by RNA polymerase II  positive regulation of transcription, DNA-templated  protein heterodimerization activity  
Ontology : EGO-EBIchromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  nucleoplasm  regulation of transcription by RNA polymerase II  positive regulation of transcription, DNA-templated  protein heterodimerization activity  
NDEx NetworkNPAS3
Atlas of Cancer Signalling NetworkNPAS3
Wikipedia pathwaysNPAS3
Orthology - Evolution
OrthoDB64067
GeneTree (enSembl)ENSG00000151322
Phylogenetic Trees/Animal Genes : TreeFamNPAS3
Homologs : HomoloGeneNPAS3
Homology/Alignments : Family Browser (UCSC)NPAS3
Gene fusions - Rearrangements
Fusion : MitelmanARID4A/NPAS3 [14q23.1/14q13.1]  
Fusion : MitelmanFOXG1/NPAS3 [14q12/14q13.1]  
Fusion : MitelmanNPAS3/AKAP6 [14q13.1/14q12]  
Fusion : MitelmanNPAS3/OXA1L [14q13.1/14q11.2]  
Fusion : MitelmanRGS6/NPAS3 [14q24.2/14q13.1]  
Fusion : QuiverNPAS3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPAS3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPAS3
dbVarNPAS3
ClinVarNPAS3
MonarchNPAS3
1000_GenomesNPAS3 
Exome Variant ServerNPAS3
GNOMAD BrowserENSG00000151322
Varsome BrowserNPAS3
ACMGNPAS3 variants
VarityQ8IXF0
Genomic Variants (DGV)NPAS3 [DGVbeta]
DECIPHERNPAS3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPAS3 
Mutations
ICGC Data PortalNPAS3 
TCGA Data PortalNPAS3 
Broad Tumor PortalNPAS3
OASIS PortalNPAS3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPAS3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNPAS3
Mutations and Diseases : HGMDNPAS3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaNPAS3
DgiDB (Drug Gene Interaction Database)NPAS3
DoCM (Curated mutations)NPAS3
CIViC (Clinical Interpretations of Variants in Cancer)NPAS3
Cancer3DNPAS3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609430   
Orphanet
DisGeNETNPAS3
MedgenNPAS3
Genetic Testing Registry NPAS3
NextProtQ8IXF0 [Medical]
GENETestsNPAS3
Target ValidationNPAS3
Huge Navigator NPAS3 [HugePedia]
ClinGenNPAS3
Clinical trials, drugs, therapy
MyCancerGenomeNPAS3
Protein Interactions : CTDNPAS3
Pharm GKB GenePA134968746
PharosQ8IXF0
Clinical trialNPAS3
Miscellaneous
canSAR (ICR)NPAS3
HarmonizomeNPAS3
DataMed IndexNPAS3
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNPAS3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:23:06 CEST 2021

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