Entity Details

Primary name NEUROD2
Entity type gene
Source Source Link

Details

PrimaryID4761
RefseqGene
SymbolNEUROD2
Nameneuronal differentiation 2
Chromosome17
Location17q12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNDF2_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001662 behavioral fear response
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007399 nervous system development
GO:0008306 associative learning
GO:0016567 protein ubiquitination
GO:0021695 cerebellar cortex development
GO:0030182 neuron differentiation
GO:0031915 positive regulation of synaptic plasticity
GO:0045666 positive regulation of neuron differentiation
GO:0046982 protein heterodimerization activity
GO:0048666 neuron development
GO:0050850 positive regulation of calcium-mediated signaling
GO:0051091 positive regulation of DNA-binding transcription factor activity
GO:0070888 E-box binding
GO:0071257 cellular response to electrical stimulus
GO:0071277 cellular response to calcium ion
GO:0090129 positive regulation of synapse maturation
GO:1990837 sequence-specific double-stranded DNA binding
GO:2000297 negative regulation of synapse maturation

Diseases

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Disease IDSourceNameDescription
618374 OMIMDevelopmental and epileptic encephalopathy 72 (DEE72)A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE72 is an autosomal dominant form with variable severity and onset in infancy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
NEUROD2TK1BioGRID, MINT21900206 details
NEUROD2PKN1BioGRID, HPRD10640683 details
NEUROD2FMR1IntAct31413325 details
NEUROD2KRT8BioGRID, IntAct30021884 details
NEUROD2RNF123BioGRID29676528 details