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FLASH GENE
Symbol NEUROD2 contributors: mct/npt/pgu - updated : 12-04-2019
HGNC name neurogenic differentiation 2
HGNC id 7763
Corresponding disease
EIEE72 epileptic encephalopathy, early infantile, 72
Location 17q12      Physical location : 37.760.021 - 37.764.175
Synonym name
  • neuroD-related factor
  • neurogenic basic-helix-loop-helix protein
  • Synonym symbol(s) KW8, NDRF, bHLHa1, MGC26304
    DNA
    TYPE functioning gene
    STRUCTURE 4.15 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC388381 17 LOC388381 RPL23 17q12 ribosomal protein L23 LASP1 17q12-q21 LIM and SH3 protein 1 LOC388382 17 hypothetical gene supported by BC009632; BC042124 FLJ43826 17q21.2 FLJ43826 protein PLXDC1 17q21.1 plexin domain containing 1 LOC390790 17 similar to Cg7197-prov protein CACNB1 17q21 calcium channel, voltage-dependent, beta 1 subunit RPL19 17q11 ribosomal protein L19 24b2/STAC2 17q21.2 24b2/STAC2 protein LOC388383 17 similar to upstream binding protein 1 MGC15482 17q21.2 F-box protein FBL2 PPARBP 17q12-q21.1 PPAR binding protein CRK7 17q21.2 CDC2-related protein kinase 7 NEUROD2 17p13.1 neurogenic differentiation 2 PPP1R1B 17q21.2 protein phosphatase 1, regulatory (inhibitor) subunit 1B (dopamine and cAMP regulated phosphoprotein, DARPP-32) STARD3 17q21.1 START domain containing 3 TCAP 17q12-q21.1 titin-cap (telethonin) PNMT 17q21.1 phenylethanolamine N-methyltransferase CAB2 17q21.2 CAB2 protein ERBB2 17q11.2-q12 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) MGC14832 GRB7 17q11.2-q12 growth factor receptor-bound protein 7 ZNFN1A3 17q11.2 zinc finger protein, subfamily 1A, 3 (Aiolos) ZPBP2 17q21.2 zona pellucida binding protein 2 GSDML 17q21.2 gasdermin-like ORMDL3 17q12 ORM1-like 3 (S. cerevisiae) LOC342669 17q21.2 similar to leucine-rich repeat domain-containing protein GSDM 17q21.2 gasdermin PSMD3 17q21.1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 CSF3 17q11.2-q12 colony stimulating factor 3 (granulocyte) TRAP100 THRA 17q11.2 thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian) NR1D1 17q11.2 nuclear receptor subfamily 1, group D, member 1 MLN51 17q12-q21.3 nuclear receptor subfamily 1, group D, member 1 LOC339287 17q21.2 hypothetical protein LOC339287 Link-GEFII 17q21.2 Link guanine nucleotide exchange factor II WIRE 17q21.2 WIRE protein CDC6 17q21.3 CDC6 cell division cycle 6 homolog (S. cerevisiae)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 3048 41.2 382 - 1997 9119405
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortex   Homo sapiensFetal
     braindiencephalonhypothalamus   Homo sapiensFetal
     brainhindbraincerebellum   Homo sapiensFetal
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualamacrine cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text in the developing nervous system
  • in the trophoblast cells first trimester)
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • basic helix-loop-helix (HLH) protein with 16E boxes in the promoter region
  • HOMOLOGY
    interspecies homolog to rattus neuroligin 2
    intraspecies paralog to NEUROD1
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • neurogenesis regulator D2, playing a role in neuronal differentiation
  • transcriptional activity
  • participating to NEUROD differentiation cascade during first trimester human placental development
  • essential for amygdala development
  • possible redundant roles for NEUROD2 and NEUROD4 in pancreatic endocrine differentiation
  • induces transcription of neuronal genes and ZEB1, which in turn de-represses neuronal differentiation by down-regulating REST, and suppresses competing myogenic fate
  • regulate cell fate and neurite stratification in the developing retina
  • NEUROD2 is a key transcription factor that regulates the structural and functional differentiation of mossy fiber (MF) synapses
  • OLIG2 has the ability to permeate the cell membrane without the addition of a protein transduction domain (PTD), similar to other basic helix-loop-helix transcription factors such as MYOD1 and NEUROD2
  • important function for NEUROD2 in balancing synaptic neurotransmission and intrinsic excitability and these processes are coordinated during cortical development
  • regulates STIM1 expression and store-operated calcium entry in cortical neurons
  • in newborn neurons, NEUROD2-mediated gene expression promotes differentiation, maturation, and survival
  • in postmitotic neurons also regulates synapse growth and ion channel expression to control excitability
  • is necessary to instruct a terminal differentiation program in basket cells that regulates targeted axon growth and inhibitory synapse formation
  • promotes the postnatal survival of both granule cells and molecular layer interneurons (basket and stellate cells
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS nervous system
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • might be a target of CDC20-ANPC in the control of presynaptic development
  • inhibits REST indirectly by involving the inhibitor of myogenic genes, ZEB1, which binds response elements in REST 5prime-UTR
  • NEUROD4 and NEUROD6 are factors that are closely related to NEUROD1 and NEUROD2
  • NEUROD2 binds to a large set of genes with functions in layer-specific differentiation and in axonal pathfinding of cortical projection neurons
  • NEUROD2, neurogenic transcription factor, binding to an intronic element within the STIM1 gene
  • cell & other
    REGULATION
    induced by NEUROG3
    Other transactivated by NEUROD1 in trophoblast cells
    regulated by the ubiquitin-proteasome system
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE72
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    misexpression induced ganglion cell production even after the normal developmental window of ganglion cell genesis (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS