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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, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]
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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | ISS | -- |
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 |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epileptic encephalopathy, early infantile, 72 |
|
|
early infantile epileptic encephalopathy |
|
|
partial fetal alcohol syndrome |
|
|
pitt-hopkins syndrome |
|
|