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    NEUROD6 neuronal differentiation 6 [ Homo sapiens (human) ]

    Gene ID: 63974, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NEUROD6provided by HGNC
    Official Full Name
    neuronal differentiation 6provided by HGNC
    Primary source
    HGNC:HGNC:13804
    See related
    Ensembl:ENSG00000164600 MIM:611513; AllianceGenome:HGNC:13804
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Nex1; Atoh2; MATH2; NEX1M; Math-2; bHLHa2
    Summary
    This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided by RefSeq, Nov 2012]
    Expression
    Restricted expression toward brain (RPKM 7.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See NEUROD6 in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (31337465..31340726, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (31475149..31478410, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (31377079..31380340, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18076 Neighboring gene uncharacterized LOC107986781 Neighboring gene uncharacterized LOC107986782 Neighboring gene VISTA enhancer hs297 Neighboring gene NANOG hESC enhancer GRCh37_chr7:31411185-31411804 Neighboring gene uncharacterized LOC105375224 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:31505615-31506326 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:31506327-31507037 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:31517206-31518405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25823 Neighboring gene ITPR interacting domain containing 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:31690801-31691359 Neighboring gene phosphodiesterase 1C

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. RNA-Seq data mining: downregulation of NeuroD6 serves as a possible biomarker for alzheimer's disease brains. Satoh J, et al. Dis Markers, 2014. PMID 25548427, Free PMC Article
    2. AT-hook proteins stimulate induction of senescence markers triggered by 5-bromodeoxyuridine in mammalian cells. Satou W, et al. Exp Gerontol, 2004 Feb. PMID 15036409
    3. Leveraging existing data sets to generate new insights into Alzheimer's disease biology in specific patient subsets. Fowler KD, et al. Sci Rep, 2015 Sep 23. PMID 26395074, Free PMC Article
    4. Cloning, chromosome localization and features of a novel human gene, MATH2. Guo L, et al. J Genet, 2002 Apr. PMID 12357074
    5. p57Kip2 is a repressor of Mash1 activity and neuronal differentiation in neural stem cells. Joseph B, et al. Cell Death Differ, 2009 Sep. PMID 19590511

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. single nucleotide polymorphisms in either the region of NEUROD6 or SNAP25 were significantly associated with Alzheimer's Disease, in APOE4+ females and APOE4+ males, respectively.
      Title: Leveraging existing data sets to generate new insights into Alzheimer's disease biology in specific patient subsets.
    2. NeuroD6 serves as a possible biomarker for Alzheimer disease brains.
      Title: RNA-Seq data mining: downregulation of NeuroD6 serves as a possible biomarker for alzheimer's disease brains.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder.
    4. cloning and some features of a novel human gene, MATH2, which encodes a protein of 337 amino acid residues with a basic helix loop helix domain and exhibits 98% similarity to mouse Math2
      Title: Cloning, chromosome localization and features of a novel human gene, MATH2.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ56829

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables E-box binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in axon development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dentate gyrus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sensory organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    neurogenic differentiation factor 6
    Names
    brain my051 protein
    class A basic helix-loop-helix protein 2
    protein atonal homolog 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_022728.4 → NP_073565.2  neurogenic differentiation factor 6

      See identical proteins and their annotated locations for NP_073565.2

      Status: REVIEWED

      Source sequence(s)
      AF248954
      Consensus CDS
      CCDS5434.1
      UniProtKB/Swiss-Prot
      Q548T9, Q96NK8, Q9H3H6
      UniProtKB/TrEMBL
      A0A090N7T3, B3KNX6, Q7Z4W9, Q8IYR9
      Related
      ENSP00000297142.3, ENST00000297142.4
      Conserved Domains (2) summary
      cd19722
      Location:82 → 151
      bHLH_TS_NeuroD6_ATOH2; basic helix-loop-helix (bHLH) domain found in neurogenic differentiation factor 6 (NeuroD6) and similar proteins
      pfam12533
      Location:153 → 272
      Neuro_bHLH; Neuronal helix-loop-helix transcription factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      31337465..31340726 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      31475149..31478410 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96NK8.1 GenPept UniProtKB/Swiss-Prot:Q96NK8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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