NEUROG3 (neurogenin 3)

Gene

• Entrez ID: 50674
• Gene name: Neurogenin 3
• Gene symbol: NEUROG3
• Synonyms (NCBI Gene): Atoh5, Math4B, NGN-3, bHLHa7, ngn3
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Transcription factors

Transcription factor	Regulation	Reference
FOXO1	Unknown	20033803

Gene ontology (GO)

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

Other IDs

• MIM: 604882
• HGNC: 13806
• e!Ensembl: ENSG00000122859

Protein

• UniProt ID: 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

Pathways

KEGG:

Maturity onset diabetes of the young

Reactome:

Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital malabsorptive diarrhea 4	Likely pathogenic; Pathogenic	rs2133226986, rs2133227010, rs2133227148, rs747088640, rs121917837, rs121917838, rs1461650439	RCV003446784 RCV001789608 RCV001789609 RCV005254116 RCV000005648 RCV000005649 RCV000500630	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEUROG3-related disorder	Likely pathogenic; Pathogenic	rs121917837	RCV003407280	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERMANENT NEONATAL DIABETES MELLITUS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	30305629		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30975975		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30305629		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28903350		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31121388		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	BEFREE	24925797		★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	28764761	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11206403, 11270683, 11344245, 18072012, 18093211, 27533310, 28235195, 28977608, 30092080, 30359270		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11206403, 11270683, 11344245, 18072012, 18093211, 27533310, 28235195, 28977608, 30092080, 30359270, 31805014		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27533310, 31805014, 34352411, 34566896, 37098639	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	21490072, 34352411	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	31805014	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18461161, 29358691, 32741144, 34352411	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31805014		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	BEFREE	18093211		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11270683, 15277395, 17146417, 18072012, 18093211, 18210030, 29358691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea	Diarrhea	Pubtator	28764761	Inhibit	★☆☆☆☆ Found in Text Mining only
Diarrhea 4 Malabsorptive Congenital	Congenital malabsorptive diarrhea	Pubtator	16855267, 21490072, 27533310	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	27533310		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	27533310	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30266298		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	32741144	Associate	★☆☆☆☆ Found in Text Mining only
Hyperproinsulinemia	Hyperproinsulinemia	BEFREE	18072012		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	27533310	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	27533310		★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Ichthyosis Bullosa Of Siemens	BEFREE	28853300		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	26327765	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28764761, 28853300		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	28764761	Inhibit	★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	19307926		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	16855267, 31805014		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndromes	Malabsorption syndrome	Pubtator	16855267, 31805014	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28903350		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	11246894, 11344245		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	19307926		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	21378176, 21490072, 28940958		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26169832		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25059804		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25425965		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	33198821, 34352411	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	37098639	Stimulate	★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	17761887		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	24925797		★☆☆☆☆ Found in Text Mining only