Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	50674
Gene name	Neurogenin 3
Gene symbol	NEUROG3
Synonyms (NCBI Gene)	Atoh5Math4BNGN-3bHLHa7ngn3
Chromosome	10
Chromosome location	10q22.1
Summary	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 dia

Show/Hide all (27)

miRTarBase ID	miRNA	Experiments
MIRT1181346	hsa-miR-1293	CLIP-seq
MIRT1181347	hsa-miR-1306	CLIP-seq
MIRT1181348	hsa-miR-15a	CLIP-seq
MIRT1181349	hsa-miR-15b	CLIP-seq
MIRT1181350	hsa-miR-16	CLIP-seq
MIRT1181351	hsa-miR-195	CLIP-seq
MIRT1181352	hsa-miR-2277-5p	CLIP-seq
MIRT1181353	hsa-miR-296-3p	CLIP-seq
MIRT1181354	hsa-miR-298	CLIP-seq
MIRT1181355	hsa-miR-3115	CLIP-seq
MIRT1181356	hsa-miR-3157-5p	CLIP-seq
MIRT1181357	hsa-miR-342-5p	CLIP-seq
MIRT1181358	hsa-miR-3675-5p	CLIP-seq
MIRT1181359	hsa-miR-424	CLIP-seq
MIRT1181360	hsa-miR-4270	CLIP-seq
MIRT1181361	hsa-miR-4434	CLIP-seq
MIRT1181362	hsa-miR-4441	CLIP-seq
MIRT1181363	hsa-miR-4483	CLIP-seq
MIRT1181364	hsa-miR-4516	CLIP-seq
MIRT1181365	hsa-miR-4651	CLIP-seq
MIRT1181366	hsa-miR-4664-5p	CLIP-seq
MIRT1181367	hsa-miR-4691-3p	CLIP-seq
MIRT1181368	hsa-miR-497	CLIP-seq
MIRT1181369	hsa-miR-608	CLIP-seq
MIRT2052504	hsa-miR-3616-3p	CLIP-seq
MIRT2052505	hsa-miR-4721	CLIP-seq
MIRT2281870	hsa-miR-4469	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
FOXO1	Unknown	20033803

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	14576336
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	14576336
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	14576336
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20807725
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	9000438
GO:0007417	Process	Central nervous system development	TAS	9000438
GO:0007422	Process	Peripheral nervous system development	TAS	9000438
GO:0007423	Process	Sensory organ development	IBA
GO:0021510	Process	Spinal cord development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031490	Function	Chromatin DNA binding	ISS
GO:0035883	Process	Enteroendocrine cell differentiation	IMP	21378176
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16511571
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	IEA
GO:0060290	Process	Transdifferentiation	IEA
GO:0060290	Process	Transdifferentiation	ISS
GO:0061564	Process	Axon development	IBA
GO:0070888	Function	E-box binding	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
604882	13806	ENSG00000122859

Q9Y4Z2

Protein name

Neurogenin-3 (NGN-3) (Class A basic helix-loop-helix protein 7) (bHLHa7) (Protein atonal homolog 5)

Protein function

Acts as a transcriptional regulator. Together with NKX2-2, initiates transcriptional activation of NEUROD1. Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similari

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	84 → 136	Helix-loop-helix DNA-binding domain	Domain

Sequence

MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRK
LRARRGGRSRPKSELALSKQRRSRRKKANDRERNRMHNLNSALDALRGVLPTFPDDAKLT
KIETLRFAHNYIWALTQTLRIADHSLYALEPPAPHCGELGSPGGSPGDWGSLYSPVSQAG
SLSPAASLEERPGLLGATFSACLSPGSLAFSDFL

Sequence length

214

Interactions

View interactions

	KEGG		Reactome
	Maturity onset diabetes of the young		Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital malabsorptive diarrhea 4	Likely pathogenic; Pathogenic	rs2133226986, rs2133227010, rs2133227148, rs747088640, rs121917837, rs121917838, rs1461650439	RCV003446784 RCV001789608 RCV001789609 RCV005254116 RCV000005648 RCV000005649 RCV000500630
NEUROG3-related disorder	Likely pathogenic; Pathogenic	rs121917837	RCV003407280

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Pain	Associate	32741144
Constipation	Associate	28764761
Diabetes Mellitus	Associate	27533310, 31805014, 34352411, 34566896, 37098639
Diabetes Mellitus Transient Neonatal 1	Associate	21490072, 34352411
Diabetes Mellitus Type 1	Associate	31805014
Diabetes Mellitus Type 2	Associate	18461161, 29358691, 32741144, 34352411
Diarrhea	Inhibit	28764761
Diarrhea 4 Malabsorptive Congenital	Associate	16855267, 21490072, 27533310
Genetic Diseases Inborn	Associate	16855267
Gonadal Disorders	Associate	27533310
Growth Disorders	Associate	27533310
Hyperglycemia	Associate	32741144
Hypogonadism	Associate	27533310
Irritable Bowel Syndrome	Associate	26327765
Irritable Bowel Syndrome	Inhibit	28764761
Malabsorption Syndromes	Associate	16855267, 31805014
Mason Type Diabetes	Associate	32741144
Maturity Onset Diabetes of the Young Type 2	Associate	32741144
Maturity Onset Diabetes of the Young Type 3	Associate	32741144
Neuroendocrine Tumors	Associate	21739268
Neuroendocrine Tumors	Stimulate	22172337
Overweight	Associate	23349771
Pancreatitis	Associate	33198821, 34352411
Pancreatitis	Stimulate	37098639

NEUROG3 (neurogenin 3)