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    NEUROD4 neuronal differentiation 4 [ Homo sapiens (human) ]

    Gene ID: 58158, updated on 9-Dec-2024

    Summary

    Official Symbol
    NEUROD4provided by HGNC
    Official Full Name
    neuronal differentiation 4provided by HGNC
    Primary source
    HGNC:HGNC:13802
    See related
    Ensembl:ENSG00000123307 MIM:611635; AllianceGenome:HGNC:13802
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATH3; ATH-3; Atoh3; MATH3; MATH-3; bHLHa4
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and E-box binding activity. Predicted to be involved in neuron differentiation; positive regulation of cell differentiation; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within Notch signaling pathway; cell fate commitment; and neurogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in adrenal (RPKM 1.3), brain (RPKM 0.2) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See NEUROD4 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55019974..55030017)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (54986632..54996675)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (55413758..55423801)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 10-like protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:55311080-55311288 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:55328775-55329974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6446 Neighboring gene thymocyte expressed, positive selection associated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:55367789-55368300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:55368301-55368810 Neighboring gene uncharacterized LOC107984515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6449 Neighboring gene uncharacterized LOC101927484 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:55462103-55462653 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:55480328-55480887 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:55480888-55481446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:55494960-55495696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:55495697-55496433 Neighboring gene heat shock transcription factor 2 pseudogene Neighboring gene olfactory receptor family 9 subfamily K member 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amacrine cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in axon development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in camera-type eye development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II 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

    Preferred Names
    neurogenic differentiation factor 4
    Names
    class A basic helix-loop-helix protein 4
    neurogenic differentiation 4
    protein atonal homolog 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_021191.3NP_067014.2  neurogenic differentiation factor 4

      See identical proteins and their annotated locations for NP_067014.2

      Status: VALIDATED

      Source sequence(s)
      BC040961, BM683125, DA417566, DA768001
      Consensus CDS
      CCDS8886.1
      UniProtKB/Swiss-Prot
      B2RAC9, Q9HD90
      Related
      ENSP00000242994.3, ENST00000242994.4
      Conserved Domains (2) summary
      cd00083
      Location:88144
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
      pfam12533
      Location:146264
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      55019974..55030017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      54986632..54996675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)