NEUROD2

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]

Full Name

NEUROD2

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).

Biological Process

Associative learning Source: Ensembl
Behavioral fear response Source: Ensembl
Cellular response to calcium ion Source: UniProtKB
Cellular response to electrical stimulus Source: UniProtKB
Cerebellar cortex development Source: UniProtKB
Negative regulation of synapse maturation Source: UniProtKB
Nervous system development Source: ProtInc
Neuron development Source: Ensembl
Neuron differentiation Source: GO_Central
Positive regulation of calcium-mediated signaling Source: UniProtKB
Positive regulation of DNA-binding transcription factor activity Source: UniProtKB
Positive regulation of neuron differentiation Source: UniProtKB
Positive regulation of synapse maturation Source: UniProtKB
Positive regulation of synaptic plasticity Source: UniProtKB
Protein ubiquitination Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central

Cellular Location

Nucleus

Involvement in disease

Developmental 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.