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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
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Genomic context

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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.

Chemical Information
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