NEUROD2
entrez
4761
canonical
uniprot
Q15784
canonical
ensembl
ENSG00000171532
resolver
ensp
ENSP00000306754
resolver
ensp
ENSP00000577689
resolver
ensp
ENSP00000577690
resolver
ensp
ENSP00000631072
resolver
enst
ENST00000302584
resolver
enst
ENST00000907630
resolver
enst
ENST00000907631
resolver
enst
ENST00000961013
resolver
genesymbol
NEUROD2
resolver
genesymbol_syn
BHLHA1
resolver
genesymbol_syn
NDRF
resolver
hgnc
HGNC:7763
resolver
uniprot
Q8TBI7
resolver
uniprot
Q9UQC6
resolver
uniprot_entry
NDF2_HUMAN
resolver
uniprot_sec
Q8TBI7
resolver
uniprot_sec
Q9UQC6
resolver
amino_acid_sequence
MLTRLFSEPGLLSDVPKFASWGDGEDDEPRSDKGDAPPPPPPAPGPGAPGPARAAKPVPLRGEEGTEATLAEVKEEGELGGEEEEEEEEEEGLDEAEGERPKKRGPKKRKMTKARLERSKLRRQKANARERNRMHDLNAALDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRSGKRPDLVSYVQTLCKGLSQPTTNLVAGCLQLNSRNFLTEQGADGAGRFHGSGGPFAMHPYPYPCSRLAGAQCQAAGGLGGGAAHALRTHGYCAAYETLYAAAGGGGASPDYNSSEYEGPLSPPLCLNGNFSLKQDSSPDHEKSYHYSMHYSALPGSRPTGHGLVFGSSAVRGGVHSENLLSYDMHLHHDRGPMYEELNAFFHN
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 72 (DEE72) [MIM:618374]: 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. {ECO:0000269|PubMed:30323019}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250}.
uniprot
proteins
mass_dalton
41361
uniprot
proteins
pubmed
10209266
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
30323019
uniprot
proteins
pubmed
8816493
uniprot
proteins
sequence_length
382
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
uniprot
proteins