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NEUROD2 neuronal differentiation 2 [ Homo sapiens (human) ]

Gene ID: 4761, updated on 1-Jun-2020

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
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; 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

Genomic context

See NEUROD2 in Genome Data Viewer
Location:
17q12
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (39603768..39607920, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37760021..37764175, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371770 Neighboring gene uncharacterized LOC105371771 Neighboring gene VISTA enhancer hs627 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26304

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
E-box binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription corepressor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
associative learning IEA
Inferred from Electronic Annotation
more info
 
behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to electrical stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
cerebellar cortex development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
negative regulation of synapse maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
neuron development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of calcium-mediated signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of synapse maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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)

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_006160.4NP_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
    Related
    ENSP00000306754.4, ENST00000302584.5
    Conserved Domains (2) summary
    cd00083
    Location:119178
    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:180310
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    39603768..39607920 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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