NEUROG3 Gene (Protein Coding)

Neurogenin 3

GC10M069571
GIFtS:
43
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 diarrhea 4 (DIAR4).[provided by RefSeq, May 2010] See more...

Aliases for NEUROG3 Gene

Aliases for NEUROG3 Gene

  • Neurogenin 3 2 3 5
  • BHLHa7 2 3 4
  • Class A Basic Helix-Loop-Helix Protein 7 3 4
  • Protein Atonal Homolog 5 3 4
  • Neurogenin-3 3 4
  • Math4B 2 3
  • Atoh5 2 3
  • NGN-3 3 4
  • Ngn3 2 3
  • NEUROG3 5
  • BHLHA7 4
  • ATOH5 4
  • NGN3 4

External Ids for NEUROG3 Gene

Previous GeneCards Identifiers for NEUROG3 Gene

  • GC10M070143
  • GC10M070418
  • GC10M071224
  • GC10M070676
  • GC10M071001
  • GC10M071331
  • GC10M065321

Summaries for NEUROG3 Gene

Entrez Gene Summary for NEUROG3 Gene

  • 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 diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]

GeneCards Summary for NEUROG3 Gene

NEUROG3 (Neurogenin 3) is a Protein Coding gene. Diseases associated with NEUROG3 include Diarrhea 4, Malabsorptive, Congenital and Diarrhea. Among its related pathways are Notch-mediated HES/HEY network and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is NEUROG1.

UniProtKB/Swiss-Prot Summary for NEUROG3 Gene

  • 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 similarity).

Gene Wiki entry for NEUROG3 Gene

Additional gene information for NEUROG3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEUROG3 Gene

Genomics for NEUROG3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NEUROG3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10J069573 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 250.7 -0.8 -790 2 EZH2 ZIC2 ETS1 FEZF1 HES1 SP2 ZNF585B YY1 EBF1 BHLHE40 ENSG00000236154 LOC101929021 NEUROG3 FAM241B
GH10J069572 Promoter/Enhancer 0.9 EPDnew Ensembl 250.7 +1.0 1024 1.2 ZNF600 ZIC2 SP2 ZBTB48 ELF1 GLIS1 EGR2 EZH2 GLIS2 ZNF777 LOC101929021 NEUROG3 FAM241B HSALNG0078587 TSPAN15
GH10J069629 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 -57.2 -57176 2 IKZF1 MYC ZSCAN16 POLR2A ZIC2 ZBTB10 NONO CTCF REST ETS1 FAM241B CCAR1 SAR1A DDX50 NEUROG3 ENSG00000236154 COL13A1 HSALNG0078596
GH10J069490 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +77.9 77928 9.1 SPI1 ZNF768 ZFP36 ZMYM3 KLF1 HNRNPL EGR2 KDM1A MAFK CTBP1 TSPAN15 NEUROG3 ENSG00000236154 FAM241B piR-46847-038 ENSG00000287306
GH10J069637 Enhancer 0.6 Ensembl ENCODE 11.3 -63.6 -63576 1.2 ZNF654 CTCF RAD21 SMC3 MAZ HSALNG0078596 FAM241B NEUROG3 ENSG00000236154 COL13A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEUROG3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEUROG3

Top Transcription factor binding sites by QIAGEN in the NEUROG3 gene promoter:
  • c-Myc
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-3
  • Max
  • POU6F1 (c2)

Genomic Locations for NEUROG3 Gene

Latest Assembly
chr10:69,571,440-69,573,425
(GRCh38/hg38)
Size:
1,986 bases
Orientation:
Minus strand

Previous Assembly
chr10:71,331,454-71,333,178
(GRCh37/hg19 by Entrez Gene)
Size:
1,725 bases
Orientation:
Minus strand

chr10:71,331,454-71,332,994
(GRCh37/hg19 by Ensembl)
Size:
1,541 bases
Orientation:
Minus strand

Genomic View for NEUROG3 Gene

Genes around NEUROG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEUROG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEUROG3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NEUROG3 Gene

Proteins for NEUROG3 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for NEUROG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4Z2-NGN3_HUMAN
    Recommended name:
    Neurogenin-3
    Protein Accession:
    Q9Y4Z2
    Secondary Accessions:
    • Q5VVI0
    • Q6DJX6
    • Q9BY24

    Protein attributes for NEUROG3 Gene

    Size:
    214 amino acids
    Molecular mass:
    23077 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Interacts with ATOH8.

neXtProt entry for NEUROG3 Gene

Post-translational modifications for NEUROG3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NEUROG3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NEUROG3 Gene

Domains & Families for NEUROG3 Gene

Gene Families for NEUROG3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NEUROG3 Gene

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH

Suggested Antigen Peptide Sequences for NEUROG3 Gene

GenScript: Design optimal peptide antigens:
  • Neurogenin 3 (E0X9P2_HUMAN)
  • Protein atonal homolog 5 (NGN3_HUMAN)
genes like me logo Genes that share domains with NEUROG3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NEUROG3 Gene

Function for NEUROG3 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for NEUROG3 Gene

UniProtKB/Swiss-Prot 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 similarity).

Phenotypes From GWAS Catalog for NEUROG3 Gene

Gene Ontology (GO) - Molecular Function for NEUROG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,ISS --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 14576336
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA,ISS --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with NEUROG3: view
genes like me logo Genes that share phenotypes with NEUROG3: view

Human Phenotype Ontology for NEUROG3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEUROG3 Gene

MGI Knock Outs for NEUROG3:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEUROG3

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for NEUROG3 Gene

Localization for NEUROG3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEUROG3 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEUROG3 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NEUROG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA,IDA 20807725
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NEUROG3: view

Pathways & Interactions for NEUROG3 Gene

genes like me logo Genes that share pathways with NEUROG3: view

SIGNOR curated interactions for NEUROG3 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for NEUROG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 14576336
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development TAS 9000438
genes like me logo Genes that share ontologies with NEUROG3: view

Drugs & Compounds for NEUROG3 Gene

Products:

  1. Drug products for research

(1) Additional Compounds for NEUROG3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NEUROG3: view

Transcripts for NEUROG3 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for NEUROG3 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEUROG3

Alternative Splicing Database (ASD) splice patterns (SP) for NEUROG3 Gene

No ASD Table

Relevant External Links for NEUROG3 Gene

GeneLoc Exon Structure for
NEUROG3

Expression for NEUROG3 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NEUROG3 Gene

mRNA expression in normal human tissues for NEUROG3 Gene
mRNA expression by BioGPS for NEUROG3 GenemRNA expression by GTEx for NEUROG3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NEUROG3 Gene

This gene is overexpressed in Brain - Hippocampus (x20.4), Small Intestine - Terminal Ileum (x8.4), and Colon - Transverse (x6.8).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEUROG3

SOURCE GeneReport for Unigene cluster for NEUROG3 Gene:

Hs.532682

Evidence on tissue expression from TISSUES for NEUROG3 Gene

  • Intestine(4.5)
  • Pancreas(3.2)
  • Nervous system(2.6)
  • Liver(2.3)
  • Skin(2.2)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NEUROG3 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • urinary
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
genes like me logo Genes that share expression patterns with NEUROG3: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for NEUROG3 Gene

Orthologs for NEUROG3 Gene

This gene was present in the common ancestor of animals.

Orthologs for NEUROG3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NEUROG3 29 30
  • 99.17 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NEUROG3 29 30
  • 85.36 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NEUROG3 29 30
  • 85.2 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Neurog3 29
  • 79.97 (n)
Mouse
(Mus musculus)
 Mammalia Neurog3 29 16 30
  • 78.72 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia NEUROG3 30
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia neurog3 29
  • 58.42 (n)
Zebrafish
(Danio rerio)
 Actinopterygii neurog3 30
  • 37 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta tap 30
  • 19 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 18 (a)
 OneToMany
Species where no ortholog for NEUROG3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NEUROG3 Gene

ENSEMBL:
Gene Tree for NEUROG3 (if available)
TreeFam:
Gene Tree for NEUROG3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NEUROG3: view image
Alliance of Genome Resources:
Additional Orthologs for NEUROG3

Paralogs for NEUROG3 Gene

Paralogs for NEUROG3 Gene

(4) SIMAP similar genes for NEUROG3 Gene using alignment to 2 proteins:

  • NGN3_HUMAN
  • E0X9P2_HUMAN
genes like me logo Genes that share paralogs with NEUROG3: view

Variants for NEUROG3 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEUROG3 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1003448 Uncertain Significance: not provided 69,572,863(-) G/A
NM_020999.4(NEUROG3):c.181C>T (p.Leu61Phe) 		MISSENSE
1009699 Uncertain Significance: not provided 69,572,784(-) T/G
NM_020999.4(NEUROG3):c.260A>C (p.Lys87Thr) 		MISSENSE
1046744 Uncertain Significance: not provided 69,572,998(-) C/G
NM_020999.4(NEUROG3):c.46G>C (p.Glu16Gln) 		MISSENSE
827677 Uncertain Significance: Diarrhea 4, malabsorptive, congenital 69,572,631(-) G/C
NM_020999.4(NEUROG3):c.413C>G (p.Thr138Arg) 		MISSENSE
999121 Uncertain Significance: not provided 69,572,504(-) G/A
NM_020999.4(NEUROG3):c.540C>T (p.Gly180=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NEUROG3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NEUROG3 Gene

Variant ID Type Subtype PubMed ID
esv32737 CNV gain+loss 17666407
nsv950975 CNV deletion 24416366

Variation tolerance for NEUROG3 Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.95; 87.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEUROG3 Gene

Human Gene Mutation Database (HGMD)
NEUROG3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEUROG3
Leiden Open Variation Database (LOVD)
NEUROG3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEUROG3 Gene

Disorders for NEUROG3 Gene

MalaCards: The human disease database

(14) MalaCards diseases for NEUROG3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
diarrhea 4, malabsorptive, congenital
  • diar4
diarrhea
  • diarrhea of presumed infectious origin
congenital diarrhea
maturity-onset diabetes of the young
  • mody
neonatal diabetes
  • diabetes mellitus syndrome in newborn infant
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NGN3_HUMAN
  • Diarrhea 4, malabsorptive, congenital (DIAR4) [MIM:610370]: A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. {ECO:0000269 PubMed:16855267}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for NEUROG3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NEUROG3: view

No data available for Genatlas for NEUROG3 Gene

Publications for NEUROG3 Gene

  1. Mutant neurogenin-3 in congenital malabsorptive diarrhea. (PMID: 16855267) Wang J … Martín MG (The New England journal of medicine 2006) 3 4 22 72
  2. Genetic variation of Neurogenin 3 is slightly associated with hyperproinsulinaemia and progression toward type 2 diabetes. (PMID: 18072012) Li J … Schwarz PE (Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2008) 3 22 40
  3. Gender and neurogenin3 influence the pathogenesis of ketosis-prone diabetes. (PMID: 18093211) Louet JF … Mauvais-Jarvis F (Diabetes, obesity & metabolism 2008) 3 22 40
  4. NEUROG3 variants and type 2 diabetes in Italians. (PMID: 17146417) Milord E … Gragnoli C (Minerva medica 2006) 3 22 40
  5. Polymorphic variations in the neurogenic differentiation-1, neurogenin-3, and hepatocyte nuclear factor-1alpha genes contribute to glucose intolerance in a South Indian population. (PMID: 15277395) Jackson AE … Hitman GA (Diabetes 2004) 3 22 40

ExternalLinks

View latest publications for NEUROG3 gene in Mastermind

Products for NEUROG3 Gene

  • Biorbyt antibodies for NEUROG3

Sources for NEUROG3 Gene