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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NEUROD1 Gene

protein-coding   GIFtS: 65
GCID: GC02M182505

neuronal differentiation 1

(Previous name: neurogenic differentiation 1 )
(Previous symbol: NEUROD)
 Explore 36 diseases affiliated with
NEUROD1 via our new
 Human Malady Compendium 
Biological research products
for NEUROD1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Neuronal Differentiation 11 2     Neurogenic Differentiation 11
NEUROD1 2 3     Basic Helix-Loop-Helix Transcription Factor2
BHLHa31     Beta-Cell E-Box Transactivator 22
BETA21 2     Neurogenic Differentiation Factor 12
BHF-11 2     Neurogenic Helix-Loop-Helix Protein NEUROD2
MODY61 2     BHLHA33
NeuroD1 3     NeuroD13
Class A Basic Helix-Loop-Helix Protein 32 3     NIDDM5

External Ids:    HGNC: 77621   Entrez Gene: 47602   Ensembl: ENSG000001629927   OMIM: 6017245   UniProtKB: Q135623   

Export aliases for NEUROD1 gene to outside databases

Previous GC identifers: GC02M180748 GC02M181224 GC02M182743 GC02M182367 GC02M182249 GC02M174397


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NEUROD1:
This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein
forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence
known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes
mellitus. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: NDF1_HUMAN, Q13562
Function: Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing
promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to
stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor
CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation
of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate
gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small
intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also
required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer
regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity)

Gene Wiki entry for NEUROD1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NEUROD1 gene promoter:
         p300   NRSF form 1   E2F-2   HNF-4alpha2   NRSF form 2   HNF-4alpha1   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNEUROD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NEUROD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NEUROD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q32   Ensembl cytogenetic band:  2q31.3   HGNC cytogenetic band: 2q32

NEUROD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NEUROD1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M182505:  view genomic region     (about GC identifiers)

Start:
182,537,815 bp from pter      End:
182,545,603 bp from pter
Size:
7,789 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NDF1_HUMAN, Q13562 (See protein sequence)
Recommended Name: Neurogenic differentiation factor 1  
Size: 356 amino acids; 39920 Da
Subunit: Interacts (via helix-loop-helix motif domain) with EP300 (via C-terminus) (By similarity). Heterodimer with
TCF3/E47; the heterodimer is inhibited in presence of ID2, but not NR0B2, to E-box element. Efficient DNA-binding
requires dimerization with another bHLH protein. Interacts with RREB1. Interacts with EP300; the interaction is
inhibited by NR0B2. Interacts with TCF3; the interaction is inhibited by ID2
Subcellular location: Cytoplasm (By similarity). Nucleus. Note=In pancreatic islet cells, shuttles to the nucleus in
response to glucose stimulation (By similarity). Colocalizes with NR0B2 in the nucleus
Secondary accessions: B2R9I8 F1T0E1 O00343 Q13340 Q5U095 Q96TH0 Q99455 Q9UEC8

Explore the universe of human proteins at neXtProt for NEUROD1: NX_Q13562

Post-translational modifications:

  • Phosphorylated. In islet cells, phosphorylated on Ser-274 upon glucose stimulation; which may be required for nuclear
  • localization. In activated neurons, phosphorylated on Ser-335; which promotes dendritic growth. Phosphorylated by
    MAPK1; phosphorylation regulates heterodimerization and DNA-binding activities. Phosphorylation on Ser-266 and Ser-274
    increases transactivation on the insulin promoter in glucose-stimulated insulinoma cells (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13562

  • NEUROD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002491.2  
    ENSEMBL proteins: 
     ENSP00000295108  
    Reactome Protein details: Q13562
    Human Recombinant Protein Products: 
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    Uscn Proteins for NEUROD1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA14752053
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--
    GO:0044424intracellular part ----


    NEUROD1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NEUROD1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NEUROD1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011598 HLH_dom
     IPR022575 Neurogenic_DUF
     IPR016637 TF_bHLH_NeuroD

    Graphical View of Domain Structure for InterPro Entry Q13562

    ProtoNet protein and cluster: Q13562

    1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: NDF1_HUMAN, Q13562
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: NDF1_HUMAN, Q13562
    Function: Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing
    promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to
    stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor
    CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation
    of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate
    gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small
    intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also
    required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer
    regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity)

         Genatlas biochemistry entry for NEUROD1:
    neurogenesis regulator D1,identical to hamster beta2 gene,expressed in pancreatic beta cells,regulating sequence and
    granule cells in the cerebellum and hippocampus,and involved in their differentiation

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    hsa-miR-300 hsa-miR-374a hsa-miR-30d hsa-miR-371-5p hsa-miR-30a hsa-miR-4325 hsa-miR-130b hsa-miR-3065-5p
    SwitchGear 3'UTR luciferase reporter plasmidNEUROD1 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001102RNA polymerase II activating transcription factor binding IPI19619559
    GO:0001105RNA polymerase II transcription coactivator activity IDA19619559
    GO:0003677DNA binding ----
    GO:0003682chromatin binding ISS--
    GO:0003690double-stranded DNA binding IEA--


    NEUROD1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NEUROD1:
     Decreased viability with pacli 

    Animal Models:
         Mouse knock-out Neurod1tm1Mjts for NEUROD1
         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Neurod1):
     behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size 
     hearing/vestibular/ear  homeostasis/metabolism  mortality/aging  nervous system  renal/urinary system 
     respiratory system  vision/eye 

    NEUROD1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of beta-cell development
    Regulation of beta-cell development1.00
    Maturity onset diabetes of the young0.56
    2Neuroscience
    Neuroscience1.00
    3Glucose / Energy Metabolism
    Glucose / Energy Metabolism1.00
    4Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
    Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells1.00
    5NEUROG3-dependent synthesis of NEUROD1
    NEUROG3-dependent synthesis of NEUROD11.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for NEUROD1
        Transcription factors in neurogenesis

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NEUROD1
        Transcriptional Regulatory Network in Embryonic Stem Cell
    MODY (Maturity-Onset Diabetes of Young)

    2 Cell Signaling Technology (CST) Pathways for NEUROD1
        Neuroscience
    Glucose / Energy Metabolism

    1 BioSystems Pathway for NEUROD1 
        SIDS Susceptibility Pathways

    4        Reactome Pathways for NEUROD1
        Developmental Biology
    Regulation of beta-cell development
    NEUROG3-dependent synthesis of NEUROD1
    Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells

    1 PharmGKB Pathway for NEUROD1
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for NEUROD1):
        Maturity onset diabetes of the young


    NEUROD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NEUROD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/44 Interacting proteins for NEUROD1 (Q135623 ENSP000002951084) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=3 STRING: ENSP00000349467
    CALM2P621583I2D: score=3 
    CALM3P621583I2D: score=3 
    MAFAQ8NHW33, ENSP000003283644I2D: score=2 STRING: ENSP00000328364
    HAP1P542573, ENSP000003340024I2D: score=1 STRING: ENSP00000334002
    About this table

    Gene Ontology (GO): 5/34 biological process terms (GO ID links to tree view) (see all 34):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003326pancreatic A cell fate commitment IEA--
    GO:0003329pancreatic PP cell fate commitment IEA--
    GO:0006913nucleocytoplasmic transport IEA--
    GO:0007263nitric oxide mediated signal transduction IDA17941991
    GO:0009749response to glucose stimulus IMP10545951


    NEUROD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NEUROD1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NEUROD1
    4 Novoseek chemical compound relationships for NEUROD1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 26.3 14 12297313 (3), 15793239 (3), 18778246 (2), 15277395 (1) (see all 8)
    retinoic acid 23.2 6 19428697 (1), 15024057 (1), 19885044 (1), 14743441 (1)
    calcium 0 1 16278289 (1)
    corticosterone 0 1 15063783 (1)

    Search CenterWatch for drugs/clinical trials and news about NEUROD1 / NDF1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for NEUROD1 gene: 
    NM_002500.4  

    Unigene Cluster for NEUROD1:

    Neuronal differentiation 1
    Hs.709709  [show with all ESTs]
    Unigene Representative Sequence: NM_002500
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496876 ENST00000295108(uc002uof.3 uc021vtn.1)

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    Additional cDNA sequence: 

    AB593068.1 AB593069.1 AB593070.1 AB593071.1 AK313799.1 BC009046.1 BT019731.1 D82347.1 
    GQ904713.1 U36472.1 U80578.1 

    7 DOTS entries:

    DT.97820969  DT.120966553  DT.95240454  DT.102822219  DT.100673212  DT.100783354  DT.100783353 

    24/99 AceView cDNA sequences (see all 99):

    BM724542 AI280084 BU790031 BU159869 BU733704 BU730011 BM128699 BE783190 
    BM709659 BM728742 BF513405 CA774889 BM353438 BQ787686 BM559083 CB068535 
    BM704106 BC009046 U80578 CA778002 BM504712 BM312193 BQ424891 BQ776704 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NEUROD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAAATGCAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    NEUROD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/36 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 36
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerCone Precursor CellsPhotoreceptors, Retina
    PancreasDorsal Pancreatic BudEndocrine Progenitor CellsPancreas
    PancreasIslets of LangerhansMature Beta CellsPancreas
    PancreasVentral Pancreatic BudEndocrine Progenitor CellsPancreas
    EyeGanglion Cell LayerGanglion Precursor CellsGanglion, Retina
    EyeNeuroblastic LayerEarly Retinal Progenitor CellsRetina
    EyeGanglion Cell LayerCholinergic Amacrine CellsAmacrine, Retina
    EyeInner Nuclear LayerAII Amacrine CellsAmacrine, Retina
    EyeInner Nuclear LayerBipolar Precursor CellsBipolar, Retina
    EyeInner Nuclear LayerCholinergic Amacrine CellsAmacrine, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    Endocrine progenitors (Generation of pancre...)
    Posterior foregut (Generation of pancre...)
    Cardiomyocyte-like cells (Cardiomyocyte genera...)
    Skeletal myocytes (Generation of skelet...)

    See NEUROD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NEUROD1

    SOURCE GeneReport for Unigene cluster: Hs.709709
        SABiosciences Expression via Pathway-Focused PCR Arrays including NEUROD1: 
              Neurogenesis in human mouse rat
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Diabetes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEUROD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NEUROD1 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves NEUROD11 neurogenic differentiation 1 78.63(n)
    78.53(a)
      395754  NM_204920.1  NP_990251.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia neurod1-A2 neurogenic differentiation 1 78.28(n)    U28067.1 
    zebrafish
    (Danio rerio)
    Actinopterygii neurod2 neurogenic differentiation 80.1(n)   30169  AF036148.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cnd-11 Protein CND-1 44.11(n)
    44.51(a)
      183212  NM_065714.4  NP_498115.1 


    ENSEMBL Gene Tree for NEUROD1 (if available)
    TreeFam Gene Tree for NEUROD1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NEUROD1 gene
    NEUROG32  FERD3L2  NEUROD22  NEUROD62  ATOH12  NEUROG22  BHLHA152  PTF1A2  
    ATOH72  NEUROG12  NEUROD42  
    3 SIMAP similar genes for NEUROD1 using alignment to 2 protein entries:     NDF1_HUMAN (see all proteins):
    NEUROD4    NEUROD6    NEUROD2

    NEUROD1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/125 NCBI SNPs in NEUROD1 are shown (see all 125    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs178472841,2
    C,F,--174397771(-) TGCATT/CTCTTC 1 -- ut311Minor allele frequency- C:0.03EA 120
    rs172709451,2
    C,H--174397990(+) ATTTAT/CTTAAG 1 -- ut318Minor allele frequency- C:0.00NA NS EA 562
    rs120529381,2
    H--174398370(+) TGATTC/TTGGTT 1 -- ut31 ese34Minor allele frequency- T:0.00NS EA 416
    rs13721211,2
    C,A--174398561(+) aattaG/Aatata 1 -- ut31 ese31Minor allele frequency- A:0.00MN 184
    rs13721221,2
    H--174398775(+) GCATAG/AATCCT 1 -- ut31 ese36Minor allele frequency- A:0.01NA MN NS EA 620
    rs13721231,2
    F,H--174398793(+) GCTTGG/TGATTT 1 -- ut31 ese38Minor allele frequency- A:0.09EA NA NS 556
    rs412702111,2
    --174399032(+) CCAAAA/GGGCTG 1 -- ut310--------
    rs81925571,2
    C,H--174399299(-) TTTGAG/AAAAAA 2 /E syn15Minor allele frequency- A:0.00NS EA NA 4970
    rs1048936491,2
    C--174399849(-) GGAGCG/TGAACC 2 R L mis10--------
    rs766844851,2
    F,--174400379(+) GTGTGC/ACCCGC 1 -- int11Minor allele frequency- A:0.07WA 118

    HapMap Linkage Disequilibrium report for NEUROD1 (182537815 - 182545603 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for NEUROD1
         1 Indel: 58940
    Human Gene Mutation Database (HGMD): NEUROD1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NEUROD1
    DNA2.0 Custom Variant and Variant Library Synthesis for NEUROD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NEUROD1 for disorders           About GeneDecksing

    OMIM gene information: 601724   
    OMIM disorders: 125853  606394  
    UniProtKB/Swiss-Prot: NDF1_HUMAN, Q13562
  • Defects in NEUROD1 are the cause of maturity-onset diabetes of the young type 6 (MODY6) [MIM:606394]. MODY is
  • a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early
    adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at
    the beginning of the disease

    20/36 diseases for NEUROD1 (see all 36):    About MalaCards
    diabetes mellitus    diabetes mellitus, noninsulin-dependent    maturity-onset diabetes of the young    maturity-onset diabetes of the young, type 6
    primitive neuroectodermal tumor    type 2 diabetes mellitus    type 1 diabetes mellitus    multiple endocrine neoplasia
    glucose intolerance    streptococcal meningitis    pituitary adenoma    neuroectodermal tumors
    neuronitis    pancreatic endocrine tumors    gestational diabetes    neuroendocrine tumor
    hyperglycemia    neuroendocrine carcinoma    pituitary tumor    adenoma

    3 diseases from the University of Copenhagen DISEASES database for NEUROD1:
    maturity-onset diabetes of the young     Asthma     Diabetes mellitus

    7 Novoseek disease relationships for NEUROD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pituitary adenoma 37.8 1 17761887 (1)
    hyperglycemia 37.5 1 17615265 (1)
    niddm 36.2 1 10545951 (1)
    diabetes mellitus insulin-dependent 29.4 2 15592940 (1), 16909454 (1)
    small cell lung cancer 14.9 1 14533935 (1)
    adenocarcinoma 0 1 14533935 (1)
    tumors 0 7 19307926 (2), 18751955 (1), 20120526 (1), 17549667 (1)

    Genetic Association Database (GAD): NEUROD1
    Human Genome Epidemiology (HuGE) Navigator: NEUROD1 (26 documents)

    Export disorders for NEUROD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NEUROD1 gene, integrated from 9 sources (see all 203):
    (articles sorted by number of sources associating them with NEUROD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. (PubMed id 10545951)1, 2, 4, 9 Malecki M.T.... Krolewski A.S. (1999)
    2. The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2. (PubMed id 8786144)1, 2, 3 Tamimi R.... Tapscott S.J. (1996)
    3. Structure and regulation of the human NeuroD (BETA2/BHF1) gene. (PubMed id 10366743)1, 2, 9 Miyachi T.... Kawakami H. (1999)
    4. cDNA cloning and expression analysis of NeuroD mRNA in human retina. (PubMed id 9144558)1, 2, 9 Acharya H.R.... Ahmad I. (1997)
    5. Orphan nuclear receptor small heterodimer partner, a novel corepressor for a basic helix-loop-helix transcription factor BETA2/neuroD. (PubMed id 14752053)1, 2, 9 Kim J.Y....Choi H.S. (2004)
    6. Ala45Thr polymorphism of the NEUROD1 gene and diabetes susceptibility: a meta-analysis. (PubMed id 15592940)1, 4, 9 Kavvoura F.K. and Ioannidis J.P. (2005)
    7. Novel transcriptional potentiation of BETA2/NeuroD on the secretin gene promoter by the DNA-binding protein Finb/RREB-1. (PubMed id 12482979)1, 2, 9 Ray S.K.... Leiter A.B. (2003)
    8. The association of Ala45Thr polymorphism in NeuroD with child-onset Type 1a diabetes in Japanese. (PubMed id 11755474)1, 4, 9 Mochizuki M....Nakazawa S. (2002)
    9. Polymorphic variations in the neurogenic differentiation-1, neurogenin-3, and hepatocyte nuclear factor-1alpha genes contribute to glucose intolerance in a South Indian population. (PubMed id 15277395)1, 4, 9 Jackson A.E....Hitman G.A. (2004)
    10. [Association of polymorphism in neurogenic differentiation factor 1 gene with type 2 diabetes] (PubMed id 12476420)1, 4, 9 Ye L....Zhang J. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4760 HGNC: 7762 AceView: NEUROD1 Ensembl:ENSG00000162992 euGenes: HUgn4760
    ECgene: NEUROD1 Kegg: 4760 H-InvDB: NEUROD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NEUROD1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NEUROD1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NEUROD1 gene:
    Search GeneIP for patents involving NEUROD1

    Licensable Technologies for NEUROD1 gene:
     Salk Institute: A Molecular Switch Regulating Neurogenesis    (see all 2)
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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