Disease-gene associations mined from literature

Literature associating NEUROD2 and partial fetal alcohol syndrome

NEUROD2 [ENSP00000306754]

Class A basic helix-loop-helix protein 1; 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); Basic helix-loop-helix proteins

Synonyms:  NEUROD2,  NEUROD2p,  hNEUROD2,  Q15784,  BHLHA1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM