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, a... See more...

Aliases for NEUROD2 Gene

Aliases for NEUROD2 Gene

  • Neuronal Differentiation 2 2 3 5
  • Class A Basic Helix-Loop-Helix Protein 1 3 4
  • Neurogenic Differentiation Factor 2 3 4
  • Neurogenic Differentiation 2 2 3
  • NeuroD-Related Factor 3 4
  • BHLHa1 3 4
  • NDRF 3 4
  • Neurogenic Basic-Helix-Loop-Helix Protein 3
  • NeuroD2 4
  • EIEE72 3
  • BHLHA1 4

External Ids for NEUROD2 Gene

Previous GeneCards Identifiers for NEUROD2 Gene

  • GC17M037260
  • GC17M039758
  • GC17M037670
  • GC17M038136
  • GC17M038135
  • GC17M035014
  • GC17M037760
  • GC17M033554

Summaries for NEUROD2 Gene

Entrez Gene Summary for NEUROD2 Gene

  • 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, Jul 2008]

GeneCards Summary for NEUROD2 Gene

NEUROD2 (Neuronal Differentiation 2) is a Protein Coding gene. Diseases associated with NEUROD2 include Epileptic Encephalopathy, Early Infantile, 72 and Early Infantile Epileptic Encephalopathy. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein dimerization activity. An important paralog of this gene is NEUROD1.

UniProtKB/Swiss-Prot Summary for NEUROD2 Gene

  • 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).

Gene Wiki entry for NEUROD2 Gene

Additional gene information for NEUROD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEUROD2 Gene

Genomics for NEUROD2 Gene

GeneHancer (GH) Regulatory Elements for NEUROD2 Gene

Promoters and enhancers for NEUROD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J039607 Promoter/Enhancer 0.8 EPDnew dbSUPER 500.7 +1.8 1837 0.1 EZH2 ZNF213 SMARCA4 HNRNPL SUZ12 ZNF394 NEUROD2 lnc-NEUROD2-1
GH17J039631 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 -24.9 -24925 8.2 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C NRF1 POLR2G NCOR1 GTF2E2 PHF8 STARD3 MED24 PGAP3 MED1 CDK12 MSL1 LOC105371762 TCAP PNMT NEUROD2
GH17J039698 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 -93.6 -93597 8.8 FOXK2 ZNF217 TCF12 POLR2G NCOR1 PHF8 TEAD4 ZFX CTCF ZNF10 ERBB2 GRB7 PGAP3 MIEN1 NEUROD2 THRA ORMDL3 GSDMB MF281430-030
GH17J039673 Enhancer 1.7 VISTA FANTOM5 ENCODE dbSUPER 11.4 -67.9 -67880 7.4 POLR2G ZFX ZNF639 ZNF10 ZIC2 KDM6A ZBTB10 ZNF423 RFX1 ZBTB7A PGAP3 STARD3 NEUROD2 RAPGEFL1 ORMDL3 ERBB2 GRB7 GSDMB PNMT
GH17J039766 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -165.1 -165110 17.2 ZSCAN5C SIN3A RBAK ZNF639 ZNF10 EP300 ZBTB10 CLOCK ZNF623 TRIM28 GSDMB MED1 ORMDL3 SNORD124 GSDMA CDK12 ERBB2 MIEN1 GRB7 SNORA21
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEUROD2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEUROD2

Top Transcription factor binding sites by QIAGEN in the NEUROD2 gene promoter:
  • AP-1
  • CREB
  • deltaCREB
  • NRSF form 1
  • NRSF form 2
  • Oct-B1
  • oct-B2
  • Sp1

Genomic Locations for NEUROD2 Gene

Genomic Locations for NEUROD2 Gene
chr17:39,603,536-39,609,777
(GRCh38/hg38)
Size:
6,242 bases
Orientation:
Minus strand
chr17:37,759,789-37,766,030
(GRCh37/hg19)
Size:
6,242 bases
Orientation:
Minus strand

Genomic View for NEUROD2 Gene

Genes around NEUROD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEUROD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEUROD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEUROD2 Gene

Proteins for NEUROD2 Gene

  • Protein details for NEUROD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15784-NDF2_HUMAN
    Recommended name:
    Neurogenic differentiation factor 2
    Protein Accession:
    Q15784
    Secondary Accessions:
    • Q8TBI7
    • Q9UQC6

    Protein attributes for NEUROD2 Gene

    Size:
    382 amino acids
    Molecular mass:
    41361 Da
    Quaternary structure:
    • Interacts with TCF3, TCF4 and TCF12. Interacts with CDC20. Efficient DNA-binding and transcription activation require dimerization with another bHLH protein (By similarity).

neXtProt entry for NEUROD2 Gene

Post-translational modifications for NEUROD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NEUROD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NEUROD2 Gene

Domains & Families for NEUROD2 Gene

Gene Families for NEUROD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NEUROD2 Gene

Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NEUROD2 Gene

GenScript: Design optimal peptide antigens:
  • NeuroD-related factor (NDF2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15784

UniProtKB/Swiss-Prot:

NDF2_HUMAN :
  • The C-terminal region is necessary for depolarization-induced and calcium-dependent transcription activation.
Domain:
  • The C-terminal region is necessary for depolarization-induced and calcium-dependent transcription activation.
genes like me logo Genes that share domains with NEUROD2: view

Function for NEUROD2 Gene

Molecular function for NEUROD2 Gene

UniProtKB/Swiss-Prot 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).
GENATLAS Biochemistry:
neurogenesis regulator D2,with transcriptional activity,expressed in the developing nervous system and in adult cortex,hippocampus cerebellum

Phenotypes From GWAS Catalog for NEUROD2 Gene

Gene Ontology (GO) - Molecular Function for NEUROD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 8816493
genes like me logo Genes that share ontologies with NEUROD2: view
genes like me logo Genes that share phenotypes with NEUROD2: view

Human Phenotype Ontology for NEUROD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEUROD2 Gene

MGI Knock Outs for NEUROD2:

Animal Model Products

CRISPR Products

miRNA for NEUROD2 Gene

miRTarBase miRNAs that target NEUROD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEUROD2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NEUROD2 Gene

Localization for NEUROD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEUROD2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEUROD2 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NEUROD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus ISS --
genes like me logo Genes that share ontologies with NEUROD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NEUROD2 Gene

Pathways & Interactions for NEUROD2 Gene

PathCards logo

SuperPathways for NEUROD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NEUROD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001662 behavioral fear response IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS 8816493
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development TAS 8816493
genes like me logo Genes that share ontologies with NEUROD2: view

No data available for Pathways by source and SIGNOR curated interactions for NEUROD2 Gene

Drugs & Compounds for NEUROD2 Gene

No Compound Related Data Available

Transcripts for NEUROD2 Gene

mRNA/cDNA for NEUROD2 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEUROD2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NEUROD2 Gene

No ASD Table

Relevant External Links for NEUROD2 Gene

GeneLoc Exon Structure for
NEUROD2

Expression for NEUROD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NEUROD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NEUROD2 Gene

This gene is overexpressed in Brain - Cerebellum (x13.9), Brain - Cerebellar Hemisphere (x13.7), Brain - Cortex (x5.4), Brain - Hippocampus (x5.4), Brain - Frontal Cortex (BA9) (x5.1), and Brain - Anterior cingulate cortex (BA24) (x5.0).

Protein differential expression in normal tissues from HIPED for NEUROD2 Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NEUROD2 Gene



Protein tissue co-expression partners for NEUROD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEUROD2

SOURCE GeneReport for Unigene cluster for NEUROD2 Gene:

Hs.322431

Evidence on tissue expression from TISSUES for NEUROD2 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with NEUROD2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NEUROD2 Gene

Orthologs for NEUROD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NEUROD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEUROD2 31 30
  • 99.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NEUROD2 31 30
  • 95.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NEUROD2 31 30
  • 93.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Neurod2 17 31 30
  • 92.23 (n)
rat
(Rattus norvegicus)
Mammalia Neurod2 30
  • 88.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NEUROD2 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEUROD2 31
  • 83 (a)
OneToOne
LOC100859203 30
  • 81.69 (n)
lizard
(Anolis carolinensis)
Reptilia NEUROD2 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia neurod2 30
  • 70.75 (n)
zebrafish
(Danio rerio)
Actinopterygii neurod2 31 30
  • 59.91 (n)
OneToOne
-- 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2662 30
worm
(Caenorhabditis elegans)
Secernentea cnd-1 31
  • 35 (a)
ManyToMany
ngn-1 31
  • 33 (a)
ManyToMany
Species where no ortholog for NEUROD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NEUROD2 Gene

ENSEMBL:
Gene Tree for NEUROD2 (if available)
TreeFam:
Gene Tree for NEUROD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NEUROD2: view image

Paralogs for NEUROD2 Gene

(6) SIMAP similar genes for NEUROD2 Gene using alignment to 1 proteins:

  • NDF2_HUMAN
genes like me logo Genes that share paralogs with NEUROD2: view

Variants for NEUROD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEUROD2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
780423 Benign: not provided 39,606,588(-) G/A SYNONYMOUS_VARIANT
rs1323339153 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72 39,606,212(-) C/G MISSENSE_VARIANT
rs1567841596 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72 39,606,199(-) A/G MISSENSE_VARIANT
VAR_082114 Epileptic encephalopathy, early infantile, 72 (EIEE72) [MIM:618374] p.Glu130Gln
VAR_082115 Epileptic encephalopathy, early infantile, 72 (EIEE72) [MIM:618374] p.Met134Thr

Additional dbSNP identifiers (rs#s) for NEUROD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NEUROD2 Gene

Variant ID Type Subtype PubMed ID
dgv40n68 CNV loss 17160897
nsv1146669 OTHER inversion 26484159
nsv2047 CNV insertion 18451855
nsv521294 CNV loss 19592680

Variation tolerance for NEUROD2 Gene

Residual Variation Intolerance Score: 28.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEUROD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEUROD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEUROD2 Gene

Disorders for NEUROD2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NEUROD2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 72
  • eiee72
early infantile epileptic encephalopathy
  • early infantile epileptic encephalopathy with burst-suppression
partial fetal alcohol syndrome
pitt-hopkins syndrome
  • phs
infratentorial cancer
  • brain neoplasm, infratentorial
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDF2_HUMAN
  • Epileptic encephalopathy, early infantile, 72 (EIEE72) [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. EIEE72 is an autosomal dominant form with variable severity and onset in infancy. {ECO:0000269 PubMed:30323019}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NEUROD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NEUROD2: view

No data available for Genatlas for NEUROD2 Gene

Publications for NEUROD2 Gene

  1. Identification and analysis of the promoter region of the human NeuroD-related factor (NDRF)1. (PMID: 10209266) Kitamura T … Kawakami H (Biochimica et biophysica acta 1999) 3 4 23 54
  2. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41 54
  3. Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer. (PMID: 19124506) Mavaddat N … Pharoah PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 41 54
  4. HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer. (PMID: 17117180) Benusiglio PR … Ponder BA (British journal of cancer 2006) 3 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for NEUROD2 Gene

  • Boster Bio Antibodies for NEUROD2
  • Boster Bio ELISA Kits for NEUROD2

Sources for NEUROD2 Gene