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    NEUROD4 neuronal differentiation 4 [ Homo sapiens (human) ]

    Gene ID: 58158, updated on 5-Mar-2024

    Summary

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    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 RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in amacrine cell differentiation; positive regulation of cell differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including Notch signaling pathway; camera-type eye development; and neurogenesis. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in adrenal (RPKM 1.3), brain (RPKM 0.2) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See NEUROD4 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55019974..55030017)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (54986632..54996675)
    105.20220307 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY. Horikawa Y, et al. Diabetes, 2000 Nov. PMID 11078465
    2. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article
    3. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. Gratacòs M, et al. Am J Med Genet B Neuropsychiatr Genet, 2009 Sep 5. PMID 19086053
    4. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049
    5. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

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

    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_021191.3 → NP_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:88 → 144
      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:146 → 264
      Neuro_bHLH; Neuronal helix-loop-helix transcription factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HD90.2 GenPept UniProtKB/Swiss-Prot:Q9HD90

    Gene LinkOut

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

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