Hs00671953_cn

• Gene Symbol: NEUROD1
• Assay Reference Genome Location: Chr.2:181677961 on build GRCh38
• Cytoband: 2q31.3

Target Gene Details

• Entrez Gene ID: 4760
• Gene Name: neuronal differentiation 1
• Gene Aliases: BETA2, BHF-1, MODY6, NEUROD, bHLHa3
• Location: Chr.2:181676106-181680665 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NEUROD1	NM_002500.4	2	1147	NP_002491.2
	AB593068.1	2	999
	AB593069.1	2	1001
	AB593070.1	2	999
	AB593071.1	2	999
	AK313799.1	2	999
	BC009046.1	2	968	AAH09046.1
	BT019731.1	1	900	AAV38536.1
	D82347.1	2	1009	BAA11558.1
	KU178230.1	1	900
	KU178231.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv834477	Chr.2:181573394 - 181728800 on Build GRCh38	Gain	CERKL NEUROD1
nsv820203	Chr.2:181678000 - 181678370 on Build GRCh38	Gain	NEUROD1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

pancreatic A cell fate commitment
pancreatic PP cell fate commitment
transcription from RNA polymerase II promoter
nucleocytoplasmic transport
nitric oxide mediated signal transduction
response to glucose
anterior/posterior pattern specification
dentate gyrus development
cerebellum development
neurogenesis
signal transduction involved in regulation of gene expression
insulin secretion
endocrine pancreas development
amacrine cell differentiation
enteroendocrine cell differentiation
response to drug
glucose homeostasis
positive regulation of apoptotic process
positive regulation of cell differentiation
positive regulation of neuron differentiation
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
negative regulation of JAK-STAT cascade
embryonic organ morphogenesis
neuron development
inner ear development
regulation of insulin secretion
positive regulation of sequence-specific DNA binding transcription factor activity
regulation of intestinal epithelial structure maintenance
regulation of cell cycle arrest
cellular response to glucose stimulus
negative regulation of type B pancreatic cell apoptotic process
positive regulation of transcription regulatory region DNA binding

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II activating transcription factor binding
RNA polymerase II transcription coactivator activity
chromatin binding
transcription factor activity, sequence-specific DNA binding
transcription coactivator activity
protein binding
transcription factor binding
sequence-specific DNA binding
protein heterodimerization activity
E-box binding