NEUROD1 neuronal differentiation 1 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RFX4 is an intrinsic factor for neuronal differentiation through induction of proneural genes POU3F2 and NEUROD1.
Title: RFX4 is an intrinsic factor for neuronal differentiation through induction of proneural genes POU3F2 and NEUROD1.
Application of Small Cell Lung Cancer Molecular Subtyping Markers to Small Cell Neuroendocrine Carcinoma of the Cervix: NEUROD1 as a Poor Prognostic Factor.
Title: Application of Small Cell Lung Cancer Molecular Subtyping Markers to Small Cell Neuroendocrine Carcinoma of the Cervix: NEUROD1 as a Poor Prognostic Factor.
Promoter-Specific Variants in NeuroD1 and H3K4me3 Coincident Regions and Clinical Outcomes of Small Cell Lung Cancer.
Title: Promoter-Specific Variants in NeuroD1 and H3K4me3 Coincident Regions and Clinical Outcomes of Small Cell Lung Cancer.
Genetic variants of NEUROD1 target genes are associated with clinical outcomes of small-cell lung cancer patients.
Title: Genetic variants of NEUROD1 target genes are associated with clinical outcomes of small-cell lung cancer patients.
Atypical familial diabetes associated with a novel NEUROD1 nonsense variant.
Title: Atypical familial diabetes associated with a novel NEUROD1 nonsense variant.
LINC00839 Promotes Neuroblastoma Progression by Sponging miR-454-3p to Up-Regulate NEUROD1.
Title: LINC00839 Promotes Neuroblastoma Progression by Sponging miR-454-3p to Up-Regulate NEUROD1.
Exosomal miR-19a decreases insulin production by targeting Neurod1 in pancreatic cancer associated diabetes.
Title: Exosomal miR-19a decreases insulin production by targeting Neurod1 in pancreatic cancer associated diabetes.
NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report.
Title: NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report.
Altered temporal sequence of transcriptional regulators in the generation of human cerebellar granule cells.
Title: Altered temporal sequence of transcriptional regulators in the generation of human cerebellar granule cells.
NeuroD1 promotes tumor cell proliferation and tumorigenesis by directly activating the pentose phosphate pathway in colorectal carcinoma.
Title: NeuroD1 promotes tumor cell proliferation and tumorigenesis by directly activating the pentose phosphate pathway in colorectal carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (82)

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

Associated conditions

Description	Tests
Maturity-onset diabetes of the young type 6 MedGen: C1853371 OMIM: 606394 GeneReviews: Maturity-Onset Diabetes of the Young Overview	Compare labs
Type 2 diabetes mellitus MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder	Compare labs

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

NEUROD1_221 (e-PCR)
- UniSTS:277529

PMC85623P1 (e-PCR)
- UniSTS:273478

PMC85623P3 (e-PCR)
- UniSTS:273480

Neurod1 (e-PCR), detects polymorphism
- UniSTS:547737

PMC317250P4 (e-PCR)
- UniSTS:273087

RH80773 (e-PCR)
- UniSTS:84714

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
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 RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
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 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 double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in amacrine cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway via JAK-STAT	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose stimulus	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	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic organ morphogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in endocrine pancreas development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in enteroendocrine cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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
involved_in 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	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in neurogenesis	TAS Traceable Author Statement more info	PubMed
involved_in nucleocytoplasmic transport	IEA Inferred from Electronic Annotation more info
involved_in pancreatic A cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in 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	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity 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 regulatory region DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of insulin secretion	IC Inferred by Curator more info	PubMed
involved_in regulation of intestinal epithelial structure maintenance	ISS Inferred from Sequence or Structural Similarity 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
involved_in signal transduction involved in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in 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

General protein information

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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

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.

Genomic

NG_011820.3 RefSeqGene

Range

5001..9051

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1119

mRNA and Protein(s)

NM_002500.5 → NP_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:75 → 160

bHLH_TS_NeuroD1; basic helix-loop-helix (bHLH) domain found in neurogenic differentiation factor 1 (NeuroD1) and similar proteins

pfam12533
Location:160 → 284

Neuro_bHLH; Neuronal helix-loop-helix transcription factor

RNA

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
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