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The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]
NEUROG3 (Neurogenin 3) is a Protein Coding gene. Diseases associated with NEUROG3 include Diarrhea 4, Malabsorptive, Congenital and Congenital Diarrhea. Among its related pathways are Regulation of beta-cell development and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is NEUROG1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,ISS | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 14576336 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 20807725 |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of beta-cell development | ||
2 | Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers | ||
3 | Developmental Biology | ||
4 | Notch-mediated HES/HEY network |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 14576336 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007399 | nervous system development | TAS | 9000438 |
GO:0007417 | central nervous system development | TAS | 9000438 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NEUROG3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NEUROG3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NEUROG3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Neurog3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Neurog3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NEUROG3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | neurog3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | neurog3 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | tap 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
719538 | Benign: not provided | 69,572,533(-) | A/T | MISSENSE_VARIANT | |
728620 | Benign: not provided | 69,572,821(-) | A/G | SYNONYMOUS_VARIANT | |
748552 | Likely Benign: not provided | 69,572,834(-) | C/T | SYNONYMOUS_VARIANT | |
rs121917837 | Pathogenic: Diarrhea 4, malabsorptive, congenital. Diarrhea 4, malabsorptive, congenital (DIAR4) [MIM:610370] | 69,572,725(-) | G/Tp.Arg107Ser | MISSENSE_VARIANT | |
rs121917838 | Pathogenic: Diarrhea 4, malabsorptive, congenital. Diarrhea 4, malabsorptive, congenital (DIAR4) [MIM:610370] | 69,572,766(-) | C/Ap.Arg93Leu | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
diarrhea 4, malabsorptive, congenital |
|
|
congenital diarrhea |
|
|
diarrhea |
|
|
maturity-onset diabetes of the young |
|
|
proprotein convertase 1/3 deficiency |
|
|