Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NEUROD1 (neuronal differentiation 1)

Identity

Alias_namesNEUROD
neurogenic differentiation 1
Alias_symbol (synonym)BETA2
BHF-1
NeuroD
bHLHa3
MODY6
Other alias
HGNC (Hugo) NEUROD1
LocusID (NCBI) 4760
Atlas_Id 46351
Location 2q31.3  [Link to chromosome band 2q31]
Location_base_pair Starts at 181676106 and ends at 181680665 bp from pter ( according to hg38-Dec_2013)

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)NEUROD1   7762
Cards
Entrez_Gene (NCBI)NEUROD1  4760  neuronal differentiation 1
AliasesBETA2; BHF-1; MODY6; NEUROD; 
bHLHa3
GeneCards (Weizmann)NEUROD1
Ensembl hg19 (Hinxton)ENSG00000162992 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162992 [Gene_View]  chr2:181676106-181680665 [Contig_View]  NEUROD1 [Vega]
ICGC DataPortalENSG00000162992
TCGA cBioPortalNEUROD1
AceView (NCBI)NEUROD1
Genatlas (Paris)NEUROD1
WikiGenes4760
SOURCE (Princeton)NEUROD1
Genetics Home Reference (NIH)NEUROD1
Genomic and cartography
GoldenPath hg38 (UCSC)NEUROD1  -     chr2:181676106-181680665 -  2q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NEUROD1  -     2q31.3   [Description]    (hg19-Feb_2009)
EnsemblNEUROD1 - 2q31.3 [CytoView hg19]  NEUROD1 - 2q31.3 [CytoView hg38]
Mapping of homologs : NCBINEUROD1 [Mapview hg19]  NEUROD1 [Mapview hg38]
OMIM125853   601724   606394   
Gene and transcription
Genbank (Entrez)AB593068 AB593069 AB593070 AB593071 AK313799
RefSeq transcript (Entrez)NM_002500
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NEUROD1
Cluster EST : UnigeneHs.709709 [ NCBI ]
CGAP (NCI)Hs.709709
Alternative Splicing GalleryENSG00000162992
Gene ExpressionNEUROD1 [ NCBI-GEO ]   NEUROD1 [ EBI - ARRAY_EXPRESS ]   NEUROD1 [ SEEK ]   NEUROD1 [ MEM ]
Gene Expression Viewer (FireBrowse)NEUROD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4760
GTEX Portal (Tissue expression)NEUROD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13562   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13562  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13562
Splice isoforms : SwissVarQ13562
PhosPhoSitePlusQ13562
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    Neurod1    Neurogenic_DUF    TF_bHLH_NeuroD   
Domain families : Pfam (Sanger)HLH (PF00010)    Neuro_bHLH (PF12533)   
Domain families : Pfam (NCBI)pfam00010    pfam12533   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)NEUROD1
DMDM Disease mutations4760
Blocks (Seattle)NEUROD1
SuperfamilyQ13562
Human Protein AtlasENSG00000162992
Peptide AtlasQ13562
HPRD03428
IPIIPI00299039   
Protein Interaction databases
DIP (DOE-UCLA)Q13562
IntAct (EBI)Q13562
FunCoupENSG00000162992
BioGRIDNEUROD1
STRING (EMBL)NEUROD1
ZODIACNEUROD1
Ontologies - Pathways
QuickGOQ13562
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription coactivator activity  pancreatic A cell fate commitment  pancreatic PP cell fate commitment  chromatin binding  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  transcription from RNA polymerase II promoter  nucleocytoplasmic transport  nitric oxide mediated signal transduction  transcription factor binding  response to glucose  anterior/posterior pattern specification  dentate gyrus development  cerebellum development  neurogenesis  signal transduction involved in regulation of gene expression  insulin secretion  endocrine pancreas development  endocrine pancreas development  amacrine cell differentiation  enteroendocrine cell differentiation  response to drug  glucose homeostasis  positive regulation of apoptotic process  sequence-specific DNA binding  positive regulation of cell differentiation  positive regulation of neuron differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  negative regulation of JAK-STAT cascade  protein heterodimerization activity  protein heterodimerization activity  embryonic organ morphogenesis  neuron development  inner ear development  regulation of insulin secretion  positive regulation of sequence-specific DNA binding transcription factor activity  regulation of intestinal epithelial structure maintenance  E-box binding  regulation of cell cycle arrest  cellular response to glucose stimulus  RNA polymerase II transcription factor complex  negative regulation of type B pancreatic cell apoptotic process  positive regulation of transcription regulatory region DNA binding  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription coactivator activity  pancreatic A cell fate commitment  pancreatic PP cell fate commitment  chromatin binding  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  transcription from RNA polymerase II promoter  nucleocytoplasmic transport  nitric oxide mediated signal transduction  transcription factor binding  response to glucose  anterior/posterior pattern specification  dentate gyrus development  cerebellum development  neurogenesis  signal transduction involved in regulation of gene expression  insulin secretion  endocrine pancreas development  endocrine pancreas development  amacrine cell differentiation  enteroendocrine cell differentiation  response to drug  glucose homeostasis  positive regulation of apoptotic process  sequence-specific DNA binding  positive regulation of cell differentiation  positive regulation of neuron differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  negative regulation of JAK-STAT cascade  protein heterodimerization activity  protein heterodimerization activity  embryonic organ morphogenesis  neuron development  inner ear development  regulation of insulin secretion  positive regulation of sequence-specific DNA binding transcription factor activity  regulation of intestinal epithelial structure maintenance  E-box binding  regulation of cell cycle arrest  cellular response to glucose stimulus  RNA polymerase II transcription factor complex  negative regulation of type B pancreatic cell apoptotic process  positive regulation of transcription regulatory region DNA binding  
Pathways : KEGGMaturity onset diabetes of the young   
NDEx NetworkNEUROD1
Atlas of Cancer Signalling NetworkNEUROD1
Wikipedia pathwaysNEUROD1
Orthology - Evolution
OrthoDB4760
GeneTree (enSembl)ENSG00000162992
Phylogenetic Trees/Animal Genes : TreeFamNEUROD1
HOVERGENQ13562
HOGENOMQ13562
Homologs : HomoloGeneNEUROD1
Homology/Alignments : Family Browser (UCSC)NEUROD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNEUROD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NEUROD1
dbVarNEUROD1
ClinVarNEUROD1
1000_GenomesNEUROD1 
Exome Variant ServerNEUROD1
ExAC (Exome Aggregation Consortium)NEUROD1 (select the gene name)
Genetic variants : HAPMAP4760
Genomic Variants (DGV)NEUROD1 [DGVbeta]
DECIPHERNEUROD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNEUROD1 
Mutations
ICGC Data PortalNEUROD1 
TCGA Data PortalNEUROD1 
Broad Tumor PortalNEUROD1
OASIS PortalNEUROD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNEUROD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNEUROD1
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch NEUROD1
DgiDB (Drug Gene Interaction Database)NEUROD1
DoCM (Curated mutations)NEUROD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NEUROD1 (select a term)
intoGenNEUROD1
Cancer3DNEUROD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125853    601724    606394   
Orphanet8028   
MedgenNEUROD1
Genetic Testing Registry NEUROD1
NextProtQ13562 [Medical]
TSGene4760
GENETestsNEUROD1
Target ValidationNEUROD1
Huge Navigator NEUROD1 [HugePedia]
snp3D : Map Gene to Disease4760
BioCentury BCIQNEUROD1
ClinGenNEUROD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4760
Chemical/Pharm GKB GenePA31564
Clinical trialNEUROD1
Miscellaneous
canSAR (ICR)NEUROD1 (select the gene name)
Probes
Litterature
PubMed101 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNEUROD1
EVEXNEUROD1
GoPubMedNEUROD1
iHOPNEUROD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:21:59 CEST 2017

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