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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4762
Gene name	Neurogenin 1
Gene symbol	NEUROG1
Synonyms (NCBI Gene)	AKACCDDRDMath4CNEUROD3bHLHa6ngn1
Chromosome	5
Chromosome location	5q31.1

Show/Hide all (22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017336	hsa-miR-335-5p	Microarray	18185580
MIRT021004	hsa-miR-155-5p	Proteomics	18668040
MIRT438550	hsa-let-7i-5p	ChIP-seqGFP reporter assayImmunocytochemistryImmunohistochemistryLuciferase reporter assayqRT-PCR	23884650
MIRT438550	hsa-let-7i-5p	ChIP-seqGFP reporter assayImmunocytochemistryImmunohistochemistryLuciferase reporter assayqRT-PCR	23884650
MIRT438550	hsa-let-7i-5p	ChIP-seqGFP reporter assayImmunocytochemistryImmunohistochemistryLuciferase reporter assayqRT-PCR	23884650
MIRT438550	hsa-let-7i-5p	ChIP-seqGFP reporter assayImmunocytochemistryImmunohistochemistryLuciferase reporter assayqRT-PCR	23884650
MIRT1181322	hsa-miR-1184	CLIP-seq
MIRT1181323	hsa-miR-1205	CLIP-seq
MIRT1181324	hsa-miR-1283	CLIP-seq
MIRT1181325	hsa-miR-296-5p	CLIP-seq
MIRT1181326	hsa-miR-3158-5p	CLIP-seq
MIRT1181327	hsa-miR-3168	CLIP-seq
MIRT1181328	hsa-miR-3189-5p	CLIP-seq
MIRT1181329	hsa-miR-370	CLIP-seq
MIRT1181330	hsa-miR-4447	CLIP-seq
MIRT1181331	hsa-miR-4472	CLIP-seq
MIRT1181332	hsa-miR-4659a-3p	CLIP-seq
MIRT1181333	hsa-miR-4659b-3p	CLIP-seq
MIRT1181334	hsa-miR-4763-5p	CLIP-seq
MIRT1181335	hsa-miR-541	CLIP-seq
MIRT1181336	hsa-miR-628-5p	CLIP-seq
MIRT1181337	hsa-miR-654-5p	CLIP-seq

Show/Hide all (60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
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:0003677	Function	DNA binding	EXP	20102160
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8816493
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	8816493
GO:0007356	Process	Thorax and anterior abdomen determination	IGI	23419067
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	8816493
GO:0007423	Process	Sensory organ development	IBA
GO:0010458	Process	Exit from mitosis	IEA
GO:0021559	Process	Trigeminal nerve development	IGI	23419067
GO:0021650	Process	Vestibulocochlear nerve formation	IGI	23419067
GO:0022008	Process	Neurogenesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030432	Process	Peristalsis	IGI	23419067
GO:0030900	Process	Forebrain development	IBA
GO:0031223	Process	Auditory behavior	IGI	23419067
GO:0031536	Process	Positive regulation of exit from mitosis	IEA
GO:0035112	Process	Genitalia morphogenesis	IGI	23419067
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042472	Process	Inner ear morphogenesis	IGI	23419067
GO:0042803	Function	Protein homodimerization activity	IDA	20102160
GO:0043025	Component	Neuronal cell body	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045664	Process	Regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048634	Process	Regulation of muscle organ development	IGI	23419067
GO:0048806	Process	Genitalia development	IGI	23419067
GO:0048839	Process	Inner ear development	IGI	23419067
GO:0050885	Process	Neuromuscular process controlling balance	IGI	23419067
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	ISS
GO:0061564	Process	Axon development	IBA
GO:0070888	Function	E-box binding	IBA
GO:0070888	Function	E-box binding	IDA	20102160
GO:0070888	Function	E-box binding	IEA
GO:0070888	Function	E-box binding	ISS
GO:0071626	Process	Mastication	IGI	23419067
GO:0090102	Process	Cochlea development	IGI	23419067
GO:0090103	Process	Cochlea morphogenesis	IGI	23419067
GO:0097094	Process	Craniofacial suture morphogenesis	IGI	23419067
GO:0098583	Process	Learned vocalization behavior	IGI	23419067
GO:1901078	Process	Negative regulation of relaxation of muscle	IGI	23419067
GO:1905747	Process	Negative regulation of saliva secretion	IGI	23419067
GO:1905748	Process	Hard palate morphogenesis	IGI	23419067
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	20102160, 28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
601726	7764	ENSG00000181965

Q92886

Protein name

Neurogenin-1 (NGN-1) (Class A basic helix-loop-helix protein 6) (bHLHa6) (Neurogenic basic-helix-loop-helix protein) (Neurogenic differentiation factor 3) (NeuroD3)

Protein function

Acts as a transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Associates with chromatin to enhancer regulatory elements in genes encoding key transcri

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	93 → 145	Helix-loop-helix DNA-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expression restricted to the embryonic nervous system.

Sequence

MPARLETCISDLDCASSSGSDLSGFLTDEEDCARLQQAASASGPPAPARRGAPNISRASE
VPGAQDDEQERRRRRGRTRVRSEALLHSLRRSRRVKANDRERNRMHNLNAALDALRSVLP
SFPDDTKLTKIETLRFAYNYIWALAETLRLADQGLPGGGARERLLPPQCVPCLPGPPSPA
SDAESWGSGAAAASPLSDPSSPAASEDFTYRPGDPVFSFPSLPKDLLHTTPCFIPYH

Sequence length

237

Interactions

View interactions

	KEGG
	Signaling pathways regulating pluripotency of stem cells

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay	Likely pathogenic; Pathogenic	rs2126852672, rs2481266925, rs748453696	RCV003322740 RCV003321470 RCV003321471	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
SCHIZOAFFECTIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (40)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenoma	Adenoma	BEFREE	16699497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22476608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30201328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22472631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	18053270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22476608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	17550320, 29484968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	18799289	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16407376, 21326223, 21625944, 23034738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17065427, 17474983, 18834226, 19002263, 25167802, 28469732, 29930328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	23419067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	23419067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	25154785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	28777935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	29484968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	29025038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	30623619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	23419067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	17550320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	21625944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30844579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17522332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	17522332, 20515335, 22476608, 27566179, 9270024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius Syndrome	BEFREE	23419067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius syndrome	Pubtator	23419067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16699497, 16820091, 21326223, 9270024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12526089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	9270024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30844579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	17761887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	18068703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	18799289		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizoaffective Disorder	Schizoaffective Disorder	PSYGENET_DG	18799289		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	17044100, 18799289		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17044100		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17044100, 18799289		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	18799289	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	26634621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	30578081	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	29025038		★★★★★ ★☆☆☆☆ Found in Text Mining only

NEUROG1 (neurogenin 1)