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NEUROD1 neuronal differentiation 1 [ Homo sapiens (human) ]

Gene ID: 4760, updated on 5-Jul-2025
Official Symbol
NEUROD1provided by HGNC
Official Full Name
neuronal differentiation 1provided by HGNC
Primary source
HGNC:HGNC:7762
See related
Ensembl:ENSG00000162992 MIM:601724; AllianceGenome:HGNC:7762
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
T2D; BETA2; BHF-1; MODY6; NEUROD; bHLHa3
Summary
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]
Expression
Biased expression in stomach (RPKM 3.1), duodenum (RPKM 3.0) and 4 other tissues See more
Orthologs
NEW
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Try the new Transcript table
See NEUROD1 in Genome Data Viewer
Location:
2q31.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (181668295..181680517, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (182158398..182170625, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (182533022..182545244, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16833 Neighboring gene integrin subunit alpha 4 Neighboring gene CERK like autophagy regulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12157 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:182545894-182546470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:182548197-182548772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16834 Neighboring gene SAP18 pseudogene 2 Neighboring gene RNA, U6atac small nuclear 19, pseudogene

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: CERKL

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
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 E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
enables E-box binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables sequence-specific double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in amacrine cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in amacrine cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
involved_in axon development IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of cell surface receptor signaling pathway via JAK-STAT IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to glucocorticoid stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in cerebellum development IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebellum development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in dentate gyrus development IEA
Inferred from Electronic Annotation
more info
 
involved_in dentate gyrus development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic organ morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic organ morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in endocrine pancreas development IEA
Inferred from Electronic Annotation
more info
 
involved_in endocrine pancreas development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in enteroendocrine cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in enteroendocrine cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
acts_upstream_of_or_within hindbrain development IEA
Inferred from Electronic Annotation
more info
 
involved_in inner ear development IEA
Inferred from Electronic Annotation
more info
 
involved_in inner ear development ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of insulin secretion IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of receptor signaling pathway via JAK-STAT IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of type B pancreatic cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of type B pancreatic cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in neurogenesis TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within pancreatic A cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within pancreatic PP cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell 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 insulin secretion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of neuron 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
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of insulin secretion IC
Inferred by Curator
more info
PubMed 
involved_in regulation of intestinal epithelial structure maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of intestinal epithelial structure maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucose IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sensory organ development IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IC
Inferred by Curator
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
neurogenic differentiation factor 1
Names
basic helix-loop-helix transcription factor
beta-cell E-box transactivator 2
class A basic helix-loop-helix protein 3
neurogenic helix-loop-helix protein NEUROD

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.

Genomic

  1. NG_011820.3 RefSeqGene

    Range
    5001..9051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1119

mRNA and Protein(s)

  1. NM_002500.5NP_002491.3  neurogenic differentiation factor 1

    Status: REVIEWED

    Source sequence(s)
    AC013733, BC009046
    Consensus CDS
    CCDS2283.1
    UniProtKB/Swiss-Prot
    B2R9I8, F1T0E1, O00343, Q13340, Q13562, Q5U095, Q96TH0, Q99455, Q9UEC8
    UniProtKB/TrEMBL
    A0A0S2Z493
    Related
    ENSP00000295108.3, ENST00000295108.4
    Conserved Domains (2) summary
    cd19719
    Location:75160
    bHLH_TS_NeuroD1; basic helix-loop-helix (bHLH) domain found in neurogenic differentiation factor 1 (NeuroD1) and similar proteins
    pfam12533
    Location:160284
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor

RNA

  1. NR_146175.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 3'-most exon compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
    Source sequence(s)
    AC013733
  2. NR_146176.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 3'-most exon compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
    Source sequence(s)
    AC013733
    Related
    ENST00000683166.1

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    181668295..181680517 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    182158398..182170625 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)