Human Gene NEUROD2 (ENST00000302584.5_7) from GENCODE V47lift37
  Description: neuronal differentiation 2 (from RefSeq NM_006160.4)
Gencode Transcript: ENST00000302584.5_7
Gencode Gene: ENSG00000171532.5_9
Transcript (Including UTRs)
   Position: hg19 chr17:37,760,021-37,764,173 Size: 4,153 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr17:37,761,704-37,762,852 Size: 1,149 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:37,760,021-37,764,173)mRNA (may differ from genome)Protein (382 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NDF2_HUMAN
DESCRIPTION: RecName: Full=Neurogenic differentiation factor 2; Short=NeuroD2; AltName: Full=Class A basic helix-loop-helix protein 1; Short=bHLHa1; AltName: Full=NeuroD-related factor; Short=NDRF;
FUNCTION: Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repression of the genetic program for neuronal differentiation; prevents the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Induces transcription of ZEB1, which in turn represses neuronal differentiation by down-regulating REST expression. Plays a role in the establishment and maturation of thalamocortical connections; involved in the segregation of thalamic afferents into distinct barrel domains within layer VI of the somatosensory cortex. Involved in the development of the cerebellar and hippocampal granular neurons, neurons in the basolateral nucleus of amygdala and the hypothalamic-pituitary axis. Associates with chromatin to the DPYSL3 E box-containing promoter (By similarity).
SUBUNIT: Interacts with TCF3, TCF4 and TCF12. Interacts with CDC20. Efficient DNA-binding and transcription activation require dimerization with another bHLH protein (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
DOMAIN: The C-terminus region is necessary for depolarization- induced and calcium-dependent transcription activation (By similarity).
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NEUROD2
Diseases sorted by gene-association score: partial fetal alcohol syndrome (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 70.51 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 209.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -55.30198-0.279 Picture PostScript Text
3' UTR -650.701683-0.387 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom
IPR022575 - Neurogenic_DUF
IPR016637 - TF_bHLH_NeuroD

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain
PF12533 - Neuronal helix-loop-helix transcription factor

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q15784
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003714 transcription corepressor activity
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0070888 E-box binding

Biological Process:
GO:0001662 behavioral fear response
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0008306 associative learning
GO:0016567 protein ubiquitination
GO:0021695 cerebellar cortex development
GO:0030154 cell differentiation
GO:0031915 positive regulation of synaptic plasticity
GO:0045664 regulation of neuron differentiation
GO:0045666 positive regulation of neuron differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048666 neuron development
GO:0050850 positive regulation of calcium-mediated signaling
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0071257 cellular response to electrical stimulus
GO:0071277 cellular response to calcium ion
GO:0090128 regulation of synapse maturation
GO:0090129 positive regulation of synapse maturation
GO:1903507 negative regulation of nucleic acid-templated transcription
GO:2000297 negative regulation of synapse maturation

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AB021742 - Homo sapiens NDRF mRNA for neuroD-related factor, complete cds.
BC022481 - Homo sapiens neurogenic differentiation 2, mRNA (cDNA clone MGC:26304 IMAGE:4816285), complete cds.
JD565567 - Sequence 546591 from Patent EP1572962.
JD405901 - Sequence 386925 from Patent EP1572962.
JD119043 - Sequence 100067 from Patent EP1572962.
JD036383 - Sequence 17407 from Patent EP1572962.
JD108989 - Sequence 90013 from Patent EP1572962.
JD215982 - Sequence 197006 from Patent EP1572962.
KJ897239 - Synthetic construct Homo sapiens clone ccsbBroadEn_06633 NEUROD2 gene, encodes complete protein.
BT019365 - Homo sapiens neurogenic differentiation 2 mRNA, complete cds.
AB464630 - Synthetic construct DNA, clone: pF1KB9627, Homo sapiens NEUROD2 gene for neurogenic differentiation 2, without stop codon, in Flexi system.
LF212447 - JP 2014500723-A/19950: Polycomb-Associated Non-Coding RNAs.
LF213261 - JP 2014500723-A/20764: Polycomb-Associated Non-Coding RNAs.
JD397676 - Sequence 378700 from Patent EP1572962.
JD416087 - Sequence 397111 from Patent EP1572962.
JD291537 - Sequence 272561 from Patent EP1572962.
JD458968 - Sequence 439992 from Patent EP1572962.
MA448024 - JP 2018138019-A/19950: Polycomb-Associated Non-Coding RNAs.
MA448838 - JP 2018138019-A/20764: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: BHLHA1, ENST00000302584.1, ENST00000302584.2, ENST00000302584.3, ENST00000302584.4, NDF2_HUMAN, NDRF, NM_006160, Q15784, Q8TBI7, Q9UQC6, uc317nbv.1, uc317nbv.2
UCSC ID: ENST00000302584.5_7
RefSeq Accession: NM_006160.4
Protein: Q15784 (aka NDF2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.