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
  • Class A Basic Helix-Loop-Helix Protein 7 3 4
  • Protein Atonal Homolog 5 3 4
  • Neurogenin-3 3 4
  • BHLHa7 3 4
  • NGN-3 3 4
  • Math4B 3
  • BHLHA7 4
  • Atoh5 3
  • ATOH5 4
  • Ngn3 3
  • 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 Congenital Diarrhea. Among its related pathways are Regulation of beta-cell development 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 NEUROG2.

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 for NEUROG3 Gene

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 500.7 -0.9 -861 1.8 USF1 ZIC2 GABPA HDAC2 OSR2 ZNF585B HES1 SP2 ZBTB17 ZSCAN18 ENSG00000236154 LOC101929021 NEUROG3
GH10J069572 Promoter 0.7 EPDnew 500.7 +0.5 515 0.1 ZBTB26 SP2 ZFHX2 ZNF777 ELF1 ZNF335 RNF2 SUZ12 EZH2 EGR2 LOC101929021 NEUROG3 FAM241B MG828474
GH10J069629 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 -57.1 -57146 2 HNRNPK ZNF217 EP300 CTCF NRF1 USF1 PHF8 PHB2 ZFX ZNF639 FAM241B ENSG00000236154 NEUROG3 COL13A1 lnc-FAM241B-4
GH10J069490 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +78.0 77957 9.1 CTBP1 RBM25 KDM1A CREB1 POLR2A SPI1 ZFHX2 BCOR FOXP2 ZNF768 TSPAN15 NEUROG3 ENSG00000236154 FAM241B piR-46847-038 ENSG00000287306
GH10J069637 Enhancer 0.6 Ensembl ENCODE 11.3 -63.5 -63547 1.2 CTCF KLF9 MAZ ZNF654 RAD21 SMC3 FAM241B ENSG00000236154 NEUROG3 COL13A1 lnc-FAM241B-4
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for NEUROG3 Gene
chr10:69,571,698-69,573,454
(GRCh38/hg38)
Size:
1,757 bases
Orientation:
Minus strand
chr10:71,331,454-71,333,210
(GRCh37/hg19)
Size:
1,757 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 StructureGene Density

RefSeq DNA sequence for NEUROG3 Gene

Proteins for NEUROG3 Gene

  • 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

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

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

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 NAS 19274049
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 --
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 Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

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:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,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:0007275 multicellular organism development IEA --
GO:0007399 nervous system development TAS 9000438
GO:0007417 central nervous system development TAS 9000438
genes like me logo Genes that share ontologies with NEUROG3: view

Drugs & Compounds for NEUROG3 Gene

(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

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 :

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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(4.4)
  • Pancreas(3.4)
  • Nervous system(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

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 31 30
  • 99.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NEUROG3 31 30
  • 85.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NEUROG3 31 30
  • 85.2 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Neurog3 30
  • 79.97 (n)
mouse
(Mus musculus)
Mammalia Neurog3 17 31 30
  • 78.72 (n)
oppossum
(Monodelphis domestica)
Mammalia NEUROG3 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia neurog3 30
  • 58.42 (n)
zebrafish
(Danio rerio)
Actinopterygii neurog3 31
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tap 31
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 18 (a)
OneToMany
Species where no ortholog for NEUROG3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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

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
rs121917837 Pathogenic: Diarrhea 4, malabsorptive, congenital. Diarrhea 4, malabsorptive, congenital (DIAR4) [MIM:610370] 69,572,725(-) G/Tp.Arg107Ser MISSENSE_VARIANT
rs121917838 Pathogenic: Diarrhea 4, malabsorptive, congenital. Diarrhea 4, malabsorptive, congenital (DIAR4) [MIM:610370] 69,572,766(-) C/Ap.Arg93Leu MISSENSE_VARIANT
rs1461650439 Pathogenic: Diarrhea 4, malabsorptive, congenital 69,572,882(-) G/T NONSENSE
rs41277236 Benign: not specified 69,572,545(-) C/T MISSENSE_VARIANT
rs4536103 Benign: not specified. - 69,572,448(-) A/Gp.Phe199Ser MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NEUROG3 Gene

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

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

Disorders for NEUROG3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for NEUROG3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diarrhea 4, malabsorptive, congenital
  • diar4
congenital diarrhea
diarrhea
  • diarrhea of presumed infectious origin
maturity-onset diabetes of the young
  • mody
pancreatic agenesis
  • partial pancreatic agenesis
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for NEUROG3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NEUROG3: view

No data available for Genatlas for NEUROG3 Gene

Publications for NEUROG3 Gene

  1. Gender and neurogenin3 influence the pathogenesis of ketosis-prone diabetes. (PMID: 18093211) Louet JF … Mauvais-Jarvis F (Diabetes, obesity & metabolism 2008) 3 23 41 54
  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 23 41 54
  3. NEUROG3 variants and type 2 diabetes in Italians. (PMID: 17146417) Milord E … Gragnoli C (Minerva medica 2006) 3 23 41 54
  4. Mutant neurogenin-3 in congenital malabsorptive diarrhea. (PMID: 16855267) Wang J … Martín MG (The New England journal of medicine 2006) 3 4 23 54
  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 23 41 54

Products for NEUROG3 Gene

  • Biorbyt antibodies for NEUROG3

Sources for NEUROG3 Gene