|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:NeuroD
BETA2
|
|
gptkbp:associatedWith
|
gptkb:diabetes_mellitus
MODY6 (Maturity-onset diabetes of the young type 6)
|
|
gptkbp:chromosomeArm
|
2q31.3
|
|
gptkbp:discoveredBy
|
Lee et al.
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
Neurogenic differentiation factor 1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000162992
4760
|
|
gptkbp:expressedIn
|
brain
pancreas
|
|
gptkbp:function
|
transcription factor
regulation of neurogenesis
regulation of insulin gene expression
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:7757
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NEUROD1
|
|
gptkbp:locatedOnChromosome
|
chromosome 2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:diabetes
neurological disorders
|
|
gptkbp:OMIM
|
601724
|
|
gptkbp:orthologInMouse
|
Neurod1
|
|
gptkbp:PDB
|
1JIM
|
|
gptkbp:proteinFamily
|
basic helix-loop-helix (bHLH) transcription factors
|
|
gptkbp:regulates
|
gptkb:insulin_gene
neuronal differentiation
neuronal gene expression
pancreatic beta-cell development
|
|
gptkbp:UniProtID
|
gptkb:Q13562
|
|
gptkbp:bfsParent
|
gptkb:NeuroD
|
|
gptkbp:bfsLayer
|
7
|