NEUROD2 neuronal differentiation 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEUROD2provided by HGNC
Official Full Name: neuronal differentiation 2provided by HGNC
Primary source: HGNC:HGNC:7763
See related: Ensembl:ENSG00000171532 MIM:601725; AllianceGenome:HGNC:7763
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: NDRF; DEE72; EIEE72; bHLHa1
Summary: This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward brain (RPKM 7.8) See more
Orthologs: mouse all
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Genomic context

Location:: 17q12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (39603768..39607920, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (40467334..40471484, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (37760021..37764173, complement)

Chromosome 17 - NC_000017.11 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
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?

NEUROD2 function is dispensable for human pancreatic beta cell specification.
Title: NEUROD2 function is dispensable for human pancreatic β cell specification.
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Title: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Title: Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
NEUROD2 variants as a cause of early infantile epileptic encephalopathy.
Title: De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
Study identifies a novel role of NeuroD2 as a tumor suppressor and prognostic biomarker in GBM the levels of which are tightly regulated by p53 and miR-210.
Title: p53 and miR-210 regulated NeuroD2, a neuronal basic helix-loop-helix transcription factor, is downregulated in glioblastoma patients and functions as a tumor suppressor under hypoxic microenvironment.
Our findings suggest that the NEUROD2 gene could play a role in the pathophysiology of neurocognitive dysfunctions as well as in the change of cognitive symptoms under antipsychotic treatment in schizophrenia and schizoaffective disorder.
Title: Associations of NEUROD2 polymorphisms and change of cognitive dysfunctions in schizophrenia and schizoaffective disorder after eight weeks of antipsychotic treatment.
Downregulation of NEUROD2 is associated with neurodevelopmental defects in trisomies 18.
Title: Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21.
The results of this study did not provide evidence for an involvement of NEUROD2 polymorphisms in the pathophysiology of alcohol dependence.
Title: Lack of association between SNPs in the NEUROD2 gene and alcohol dependence in a German patient sample.
Observational study of gene-disease association. (HuGE Navigator)
Title: Lack of association between SNPs in the NEUROD2 gene and alcohol dependence in a German patient sample.
Lower neuroD2 mRNA levels was found in opiate-dependent individuals in the cortex and hippocampus.
Title: A possible impact of the neuroD2 transcription factor on the development of drug abusing behavior.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Developmental and epileptic encephalopathy, 72 MedGen: C5193063 OMIM: 618374 GeneReviews: Not available	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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
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	ISS Inferred from Sequence or Structural Similarity more info
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in associative learning	IEA Inferred from Electronic Annotation more info
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
involved_in behavioral fear response	IEA Inferred from Electronic Annotation more info
involved_in cellular response to calcium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to electrical stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cerebellar cortex development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of synapse maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of calcium-mediated signaling	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 synapse maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synaptic plasticity	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 protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in sensory organ development	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
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: neurogenic differentiation factor 2

Names: class A basic helix-loop-helix protein 1; neuroD-related factor; neurogenic basic-helix-loop-helix protein; neurogenic differentiation 2

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)

NM_006160.4 → NP_006151.3 neurogenic differentiation factor 2

See identical proteins and their annotated locations for NP_006151.3

Status: REVIEWED

Source sequence(s)

AC087491, AW134767, BC022481

Consensus CDS

CCDS11338.1

UniProtKB/Swiss-Prot

Q15784, Q8TBI7, Q9UQC6

UniProtKB/TrEMBL

Q5U0R0

Related

ENSP00000306754.4, ENST00000302584.5

Conserved Domains (2) summary

cd19720
Location:88 → 180

bHLH_TS_NeuroD2; basic helix-loop-helix (bHLH) domain found in neurogenic differentiation factor 2 (NeuroD2) and similar proteins

pfam12533
Location:180 → 310

Neuro_bHLH; Neuronal helix-loop-helix transcription factor