NEUROG3 (neurogenin 3)

Gene

• Entrez ID: 50674
• Gene name: Neurogenin 3
• Gene symbol: NEUROG3
• Synonyms: 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	IBA	21873635
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	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
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	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 28514442, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	20807725
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
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:0021510	Process	Spinal cord development	IEA
GO:0030182	Process	Neuron differentiation	IBA	21873635
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0031018	Process	Endocrine pancreas development	IEA
GO:0031490	Function	Chromatin DNA binding	ISS
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16511571
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	IEA
GO:0060290	Process	Transdifferentiation	ISS

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

Causal
Disease name	Disease term	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent, Neonatal diabetes mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	30595370

Unknown
Disease name	Disease term	dbSNP ID	References
Cholestatic liver disease	Cholestatic liver disease
Malabsorption syndrome	Malabsorption Syndrome
Portal hypertension	Portal Hypertension