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 (22)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	30578081	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Associate	30201328	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Associate	17550320, 29484968	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Associate	18799289	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	17065427, 17474983, 18834226, 19002263, 25167802, 28469732, 29930328	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Cranial Dysinnervation Disorders	Associate	23419067	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	23419067	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranial Nerve Diseases	Associate	23419067	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Associate	23419067	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Associate	25154785	★★★★★ ★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Associate	30201328	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Associate	28777935	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibromyalgia	Associate	37510217	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Associate	23419067	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Associate	23419067	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	17591929, 29484968, 29930328, 31006665	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	30880778	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nerve Degeneration	Associate	21374761, 30698461	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nerve Degeneration	Stimulate	30698461	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Associate	18799289	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turcot syndrome	Stimulate	30578081	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vestibulocochlear Nerve Diseases	Associate	23419067	★★★★★ ★☆☆☆☆ Found in Text Mining only

NEUROG1 (neurogenin 1)