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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4761
Gene name Gene Name - the full gene name approved by the HGNC.	Neuronal differentiation 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NEUROD2
Synonyms (NCBI Gene) Gene synonyms aliases	DEE72, EIEE72, NDRF, bHLHa1
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1323339153	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1567841596	A>G	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(195)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018380	hsa-miR-335-5p	Microarray	18185580
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT492962	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT492961	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT492960	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT492959	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT492958	hsa-miR-4467	PAR-CLIP	23592263
MIRT492957	hsa-miR-3180	PAR-CLIP	23592263
MIRT492956	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT492954	hsa-miR-3196	PAR-CLIP	23592263
MIRT492955	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT492953	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT492952	hsa-miR-4488	PAR-CLIP	23592263
MIRT492951	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT492950	hsa-miR-183-5p	PAR-CLIP	23592263
MIRT492949	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT492948	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT492947	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT492946	hsa-miR-449a	PAR-CLIP	23592263
MIRT492945	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT492944	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT492943	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT492942	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT492940	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT492941	hsa-miR-5693	PAR-CLIP	23592263
MIRT492939	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT492938	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT492937	hsa-miR-663a	PAR-CLIP	23592263
MIRT492936	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT492935	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT492934	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT492933	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT492932	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT492931	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT492929	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT492930	hsa-miR-5698	PAR-CLIP	23592263
MIRT492928	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT492927	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT740022	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT740022	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT740022	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT740019	hsa-miR-297	HITS-CLIP	27418678
MIRT740019	hsa-miR-297	HITS-CLIP	27418678
MIRT740019	hsa-miR-297	HITS-CLIP	27418678
MIRT740020	hsa-miR-3149	HITS-CLIP	27418678
MIRT740020	hsa-miR-3149	HITS-CLIP	27418678
MIRT740020	hsa-miR-3149	HITS-CLIP	27418678
MIRT740021	hsa-miR-4307	HITS-CLIP	27418678
MIRT740021	hsa-miR-4307	HITS-CLIP	27418678
MIRT740021	hsa-miR-4307	HITS-CLIP	27418678
MIRT740018	hsa-miR-567	HITS-CLIP	27418678
MIRT740018	hsa-miR-567	HITS-CLIP	27418678
MIRT740018	hsa-miR-567	HITS-CLIP	27418678
MIRT740022	hsa-miR-129-5p	HITS-CLIP	28735896
MIRT740019	hsa-miR-297	HITS-CLIP	28735896
MIRT740020	hsa-miR-3149	HITS-CLIP	28735896
MIRT740021	hsa-miR-4307	HITS-CLIP	28735896
MIRT740018	hsa-miR-567	HITS-CLIP	28735896
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT492962	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT492961	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT492960	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT492959	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT492958	hsa-miR-4467	PAR-CLIP	23592263
MIRT492957	hsa-miR-3180	PAR-CLIP	23592263
MIRT492956	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT492954	hsa-miR-3196	PAR-CLIP	23592263
MIRT492955	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT492953	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT492952	hsa-miR-4488	PAR-CLIP	23592263
MIRT492951	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT492950	hsa-miR-183-5p	PAR-CLIP	23592263
MIRT492949	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT492948	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT492947	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT492946	hsa-miR-449a	PAR-CLIP	23592263
MIRT492945	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT492944	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT492943	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT492942	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT492940	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT492941	hsa-miR-5693	PAR-CLIP	23592263
MIRT492939	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT492938	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT492937	hsa-miR-663a	PAR-CLIP	23592263
MIRT492936	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT492935	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT492934	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT492933	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT492932	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT492931	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT492929	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT492930	hsa-miR-5698	PAR-CLIP	23592263
MIRT492928	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT492927	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT1181279	hsa-miR-185	CLIP-seq
MIRT1181280	hsa-miR-1908	CLIP-seq
MIRT1181281	hsa-miR-3191	CLIP-seq
MIRT1181282	hsa-miR-34a	CLIP-seq
MIRT1181283	hsa-miR-3648	CLIP-seq
MIRT1181284	hsa-miR-4254	CLIP-seq
MIRT1181285	hsa-miR-4292	CLIP-seq
MIRT1181286	hsa-miR-4306	CLIP-seq
MIRT1181287	hsa-miR-4308	CLIP-seq
MIRT1181288	hsa-miR-4434	CLIP-seq
MIRT1181289	hsa-miR-449b	CLIP-seq
MIRT1181290	hsa-miR-4516	CLIP-seq
MIRT1181291	hsa-miR-4531	CLIP-seq
MIRT1181292	hsa-miR-4644	CLIP-seq
MIRT1181293	hsa-miR-4706	CLIP-seq
MIRT1181294	hsa-miR-4712-3p	CLIP-seq
MIRT1181295	hsa-miR-4749-5p	CLIP-seq
MIRT1181296	hsa-miR-663	CLIP-seq
MIRT1181297	hsa-miR-765	CLIP-seq
MIRT2052494	hsa-miR-1470	CLIP-seq
MIRT2052495	hsa-miR-4469	CLIP-seq
MIRT2052496	hsa-miR-4667-3p	CLIP-seq
MIRT2281859	hsa-miR-583	CLIP-seq
MIRT1181297	hsa-miR-765	CLIP-seq

Show/Hide all(51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001662	Process	Behavioral fear response	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8816493
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	8816493
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	8816493
GO:0007423	Process	Sensory organ development	IBA
GO:0008306	Process	Associative learning	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	ISS
GO:0021695	Process	Cerebellar cortex development	IEA
GO:0021695	Process	Cerebellar cortex development	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031915	Process	Positive regulation of synaptic plasticity	IEA
GO:0031915	Process	Positive regulation of synaptic plasticity	ISS
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:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048666	Process	Neuron development	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	ISS
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	IEA
GO:0070888	Function	E-box binding	ISS
GO:0071257	Process	Cellular response to electrical stimulus	IEA
GO:0071257	Process	Cellular response to electrical stimulus	ISS
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0090129	Process	Positive regulation of synapse maturation	IEA
GO:0090129	Process	Positive regulation of synapse maturation	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000297	Process	Negative regulation of synapse maturation	IEA
GO:2000297	Process	Negative regulation of synapse maturation	ISS

MIM	HGNC	e!Ensembl
601725	7763	ENSG00000171532

Protein

UniProt ID

Q15784

Protein name

Neurogenic differentiation factor 2 (NeuroD2) (Class A basic helix-loop-helix protein 1) (bHLHa1) (NeuroD-related factor) (NDRF)

Protein function

Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repression of the genetic program for neuronal differe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	122 → 174	Helix-loop-helix DNA-binding domain	Domain
PF12533	Neuro_bHLH	180 → 310	Neuronal helix-loop-helix transcription factor	Family

Sequence

MLTRLFSEPGLLSDVPKFASWGDGEDDEPRSDKGDAPPPPPPAPGPGAPGPARAAKPVPL
RGEEGTEATLAEVKEEGELGGEEEEEEEEEEGLDEAEGERPKKRGPKKRKMTKARLERSK
LRRQKANARERNRMHDLNAALDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRSG
KRPDLVSYVQTLCKGLSQPTTNLVAGCLQLNSRNFLTEQGADGAGRFHGSGGPFAMHPYP
YPCSRLAGAQCQAAGGLGGGAAHALRTHGYCAAYETLYAAAGGGGASPDYNSSEYEGPLS
PPLCLNGNFSLKQDSSPDHEKSYHYSMHYSALPGSRPTGHGLVFGSSAVRGGVHSENLLS
YDMHLHHDRGPMYEELNAFFHN

Sequence length

382

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 72	rs1323339153, rs1567841596	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Asthma in any disease, Asthma (childhood onset), Nonatopic asthma, Atopic asthma	N/A	N/A	GWAS
Diabetes	Type 2 diabetes, Type 2 diabetes (PheCode 250.2), Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes or schizophrenia (pleiotropy)	N/A	N/A	GWAS
Dyslexia	Dyslexia	N/A	N/A	GWAS
Hyperopia	Hyperopia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Polycystic Ovary Syndrome	Polycystic ovary syndrome	N/A	N/A	GWAS
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma in Situ	Associate	21731750
Breast Neoplasms Male	Associate	25906114
Developmental Disabilities	Associate	36494631
Neoplasms	Associate	25906114
Spasm	Associate	36494631
Spasms Infantile	Associate	35830182
Syndrome	Associate	36494631
Trisomy 18 Syndrome	Inhibit	22752091

NEUROD2 (neuronal differentiation 2)