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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
External Ids for NEUROD2 Gene
- HGNC: 7763
- Entrez Gene: 4761
- Ensembl: ENSG00000171532
- OMIM: 601725
- UniProtKB: Q15784
Previous GeneCards Identifiers for NEUROD2 Gene
- GC17M037260
- GC17M039758
- GC17M037670
- GC17M038136
- GC17M038135
- GC17M035014
- GC17M037760
- GC17M033554
Summaries 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).
Additional gene information for NEUROD2 Gene
- HGNC(7763)
- Entrez Gene(4761)
- Ensembl(ENSG00000171532)
- OMIM(601725)
- UniProtKB(Q15784)
- Open Targets Platform(ENSG00000171532)
- Search for NEUROD2 at DataMed
- Search for NEUROD2 at HumanCyc
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 Pubs
Promoters and enhancers for NEUROD2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
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:
-
- 17q12 by HGNC
- 17q12 by Entrez Gene
- 17q12 by Ensembl
NEUROD2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for NEUROD2 Gene
Post-translational modifications for NEUROD2 Gene
Other Protein References for NEUROD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ NDF2 Antibody
- Novus Biologicals Antibodies for NEUROD2
-
Abcam antibodies for NEUROD2
- Invitrogen Antibodies for NEUROD2 (AFLGC-NEUROD2)
-
Biorbyt antibodies for NEUROD2
-
Santa Cruz Biotechnology (SCBT) Antibodies for NEUROD2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for NEUROD2
- Origene Custom Protein Services for NEUROD2
- antibodies-online: Show 6 available NEUROD2 Proteins ranked by validation data
- Compare Top NEUROD2 Proteins
-
Quality Products:
-
Abcam proteins for NEUROD2
Assay Products
-
Boster Bio ELISA Kits for NEUROD2
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
- InterPro:
- Blocks:
-
- Basic helix-loop-helix dimerization domain bHLH
- 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
Q15784UniProtKB/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.
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
| 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 | ISM | 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 |
Phenotypes for NEUROD2 Gene
- MGI mutant phenotypes for NEUROD2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for NEUROD2:
Animal Models for NEUROD2 Gene
- MGI Knock Outs for NEUROD2:
-
- Neurod2 Neurod2<tm1Tap>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NEUROD2 - Select products 50% OFF >
- * NEUROD2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NEUROD2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NEUROD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for NEUROD2
miRNA for NEUROD2 Gene
- miRTarBase miRNAs that target NEUROD2
-
- hsa-miR-335-5p (MIRT018380)
- hsa-miR-7111-5p (MIRT492927)
- hsa-miR-6870-5p (MIRT492928)
- hsa-miR-4723-5p (MIRT492929)
- hsa-miR-5698 (MIRT492930)
- hsa-miR-6825-5p (MIRT492931)
- hsa-miR-6883-5p (MIRT492932)
- hsa-miR-6785-5p (MIRT492933)
- hsa-miR-4728-5p (MIRT492934)
- hsa-miR-149-3p (MIRT492935)
- hsa-miR-6787-5p (MIRT492936)
- hsa-miR-663a (MIRT492937)
- hsa-miR-1908-5p (MIRT492938)
- hsa-miR-3616-3p (MIRT492939)
- hsa-miR-7843-5p (MIRT492940)
- hsa-miR-5693 (MIRT492941)
- hsa-miR-6879-5p (MIRT492942)
- hsa-miR-6735-5p (MIRT492943)
- hsa-miR-4632-5p (MIRT492944)
- hsa-miR-4436b-3p (MIRT492945)
- hsa-miR-449a (MIRT492946)
- hsa-miR-34a-5p (MIRT492947)
- hsa-miR-34c-5p (MIRT492948)
- hsa-miR-449b-5p (MIRT492949)
- hsa-miR-183-5p (MIRT492950)
- hsa-miR-4697-5p (MIRT492951)
- hsa-miR-4488 (MIRT492952)
- hsa-miR-1237-5p (MIRT492953)
- hsa-miR-3196 (MIRT492954)
- hsa-miR-6816-5p (MIRT492955)
- hsa-miR-3180-3p (MIRT492956)
- hsa-miR-3180 (MIRT492957)
- hsa-miR-4467 (MIRT492958)
- hsa-miR-2277-5p (MIRT492959)
- hsa-miR-6805-5p (MIRT492960)
- hsa-miR-6794-5p (MIRT492961)
- hsa-miR-4716-3p (MIRT492962)
- mmu-miR-5101 (MIRT582226)
- mmu-miR-466i-5p (MIRT592521)
- mmu-miR-466d-5p (MIRT592522)
- mmu-miR-466k (MIRT592523)
- mmu-miR-466l-5p (MIRT592524)
- mmu-miR-466h-5p (MIRT593415)
- mmu-miR-466j (MIRT593416)
- mmu-miR-466m-5p (MIRT593417)
- mmu-miR-466n-5p (MIRT593418)
- mmu-miR-669m-5p (MIRT593419)
- mmu-miR-210-3p (MIRT593420)
- hsa-miR-128-2-5p (MIRT711078)
- hsa-miR-128-1-5p (MIRT711079)
- hsa-miR-6781-5p (MIRT711080)
- hsa-miR-744-5p (MIRT711081)
- hsa-miR-324-5p (MIRT711082)
- hsa-miR-6775-5p (MIRT711083)
- hsa-miR-5090 (MIRT711084)
- hsa-miR-6784-5p (MIRT711085)
- hsa-miR-4532 (MIRT711086)
- hsa-miR-1247-3p (MIRT711087)
- hsa-miR-129-5p (MIRT783545)
- hsa-miR-297 (MIRT784386)
- hsa-miR-3149 (MIRT784668)
- hsa-miR-4307 (MIRT785673)
- hsa-miR-567 (MIRT787721)
- hsa-miR-675-3p (MIRT788571)
- hsa-miR-8068 (MIRT789792)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NEUROD2
- Browse OriGene Inhibitory RNA Products For NEUROD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEUROD2
Clone Products
- Applied Biological Materials (abm): Clones for NEUROD2 - Select products 50% OFF >
- * NEUROD2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NEUROD2
- Addgene plasmids for NEUROD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NEUROD2
Cell Line Products
-
Horizon Cell Lines for NEUROD2
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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | ISS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for NEUROD2 Gene
Pathways & Interactions for NEUROD2 Gene
Interacting Proteins for NEUROD2 Gene
Selected Interacting proteins:
Q15784-NDF2_HUMAN
ENSP00000306754
for NEUROD2 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for NEUROD2
| 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 |
No data available for Pathways by source and SIGNOR curated interactions for NEUROD2 Gene
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 :
-
- ENST00000302584 3030 nts (view in UCSC)
- ENST00000580874 6242 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NEUROD2 - Select products 50% OFF >
- * NEUROD2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NEUROD2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NEUROD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for NEUROD2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NEUROD2
- Browse OriGene Inhibitory RNA Products For NEUROD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEUROD2
Clone Products
- Applied Biological Materials (abm): Clones for NEUROD2 - Select products 50% OFF >
- * NEUROD2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NEUROD2
- Addgene plasmids for NEUROD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NEUROD2
Relevant External Links for NEUROD2 Gene
- GeneLoc Exon Structure for
- NEUROD2
Expression for NEUROD2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
- nGnG Amacrine Cells Inner Nuclear Layer
- AII Amacrine Cells Inner Nuclear Layer
- Mature Ganglion Cells Ganglion Cell Layer
- Late Immature Amacrine Cells Inner Nuclear Layer
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
- nGnG Amacrine Cells Inner Nuclear Layer
- AII Amacrine Cells Inner Nuclear Layer
- Mature Ganglion Cells Ganglion Cell Layer
- Late Immature Amacrine Cells Inner Nuclear Layer
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Cerebral Cortex
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Neural Tube (Nervous System)
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).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEUROD2
SOURCE GeneReport for Unigene cluster for NEUROD2 Gene:
Hs.322431Evidence on tissue expression from TISSUES for NEUROD2 Gene
- Nervous system(4.7)
Primer Products
-
OriGene qPCR primer pairs for NEUROD2
-
OriGene qPCR primer pairs and template standards for NEUROD2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NEUROD2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NEUROD2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NEUROD2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Neurod2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Neurod2 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | NEUROD2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | NEUROD2 31 |
|
OneToOne | |
| LOC100859203 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | NEUROD2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | neurod2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | neurod2 30 31 |
|
OneToOne | |
| -- 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2662 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | cnd-1 31 |
|
ManyToMany | |
| ngn-1 31 |
|
ManyToMany |
- Species where no ortholog for NEUROD2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Paralogs for NEUROD2 Gene
(6) SIMAP similar genes for NEUROD2 Gene using alignment to 1 proteins:
- NDF2_HUMAN
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 | |
| 872718 | Likely Pathogenic: not provided | 39,606,211(-) | T/G | MISSENSE_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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEUROD2 Gene
Disorders for NEUROD2 Gene
(4) MalaCards diseases for NEUROD2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 72 |
|
|
| early infantile epileptic encephalopathy |
|
|
| partial fetal alcohol syndrome |
|
|
| pitt-hopkins syndrome |
|
|
Search NEUROD2 in MalaCards
View complete list of genes associated with diseases
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
- Open Targets Platform
No data available for Genatlas for NEUROD2 Gene
Publications for NEUROD2 Gene
- 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
- De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. (PMID: 30323019) Sega AG … Lakhani SA (Journal of medical genetics 2019) 3 4
- 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
- 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
- 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
ExternalLinks
Products for NEUROD2 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for NEUROD2
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- OriGene qPCR primer pairs for NEUROD2
- OriGene qPCR primer pairs and template standards for NEUROD2
- OriGene CRISPR knockouts for NEUROD2
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- Browse OriGene miRNA Products For NEUROD2
- Sino Biological Human cDNA Clone for NEUROD2
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- High-throughput Antibody Production Service
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- Novus Biologicals proteins and lysates for NEUROD2
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- Abcam proteins for NEUROD2
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- Invitrogen Antibodies for NEUROD2 (AFLGC-NEUROD2)
- VectorBuilder Custom and pre-made DNA vectors for NEUROD2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for NEUROD2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for NEUROD2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for NEUROD2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for NEUROD2
- Addgene plasmids for NEUROD2
- antibodies-online: Show 14 available NEUROD2 Antibodies ranked by validation data
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- antibodies-online: Search results for available NEUROD2 related products ranked by validation data
- antibodies-online: Show 6 available NEUROD2 Proteins ranked by validation data
- Compare Top NEUROD2 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for NEUROD2
- Search Santa Cruz Biotechnology (SCBT) for NEUROD2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for NEUROD2
- Horizon Cell Lines for NEUROD2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NEUROD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NEUROD2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for NEUROD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEUROD2
- Biorbyt antibodies for NEUROD2
Sources for NEUROD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB