ENSG00000122859


Homo sapiens

Features
Gene ID: ENSG00000122859
  
Biological name :NEUROG3
  
Synonyms : NEUROG3 / neurogenin 3 / Q9Y4Z2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q22.1
Gene start: 69571698
Gene end: 69573238
  
Corresponding Affymetrix probe sets: 207965_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000242462
NCBI entrez gene - 50674     See in Manteia.
OMIM - 604882
RefSeq - NM_020999
RefSeq - XM_017016280
RefSeq Peptide - NP_066279
swissprot - Q9Y4Z2
Ensembl - ENSG00000122859
  
Related genetic diseases (OMIM): 610370 - Diarrhea 4, malabsorptive, congenital, 610370

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 neurog3ENSDARG00000016951Danio rerio
 NEUROG3ENSGALG00000034810Gallus gallus
 P70661ENSMUSG00000044312Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q92886 / NEUROG1 / neurogenin 1ENSG0000018196541
Q9H2A3 / NEUROG2 / neurogenin 2ENSG0000017840335
Q96NK8 / NEUROD6 / neuronal differentiation 6ENSG0000016460029
Q13562 / NEUROD1 / neuronal differentiation 1ENSG0000016299227
Q9HD90 / NEUROD4 / neuronal differentiation 4ENSG0000012330725
Q15784 / NEUROD2 / neuronal differentiation 2ENSG0000017153225
ATOH1 / Q92858 / atonal bHLH transcription factor 1ENSG0000017223822
ATOH8 / Q96SQ7 / atonal bHLH transcription factor 8ENSG0000016887421
ATOH7 / Q8N100 / atonal bHLH transcription factor 7ENSG0000017977420
Q7RTS1 / BHLHA15 / basic helix-loop-helix family member a15ENSG0000018053520


Protein motifs (from Interpro)
Interpro ID Name
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR032656  Neurogenin-3
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development TAS
 biological_processGO:0007417 central nervous system development TAS
 biological_processGO:0007422 peripheral nervous system development TAS
 biological_processGO:0021510 spinal cord development IEA
 biological_processGO:0022008 neurogenesis IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030855 epithelial cell differentiation IEA
 biological_processGO:0030900 forebrain development IEA
 biological_processGO:0030902 hindbrain development IEA
 biological_processGO:0031018 endocrine pancreas development IEA
 biological_processGO:0045597 positive regulation of cell differentiation IEA
 biological_processGO:0045666 positive regulation of neuron differentiation IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048814 regulation of dendrite morphogenesis IEA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity IEA
 biological_processGO:0060290 transdifferentiation IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001047 core promoter binding IEA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003690 double-stranded DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003713 transcription coactivator activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0031490 chromatin DNA binding IEA
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001409 Portal hypertension 
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 HP:0001508 Failure to thrive 
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 HP:0001944 Dehydration 
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 HP:0002013 Vomiting 
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 HP:0002014 Diarrhea 
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 HP:0002024 Malabsorption 
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 HP:0002611 Cholestatic liver disease 
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 HP:0003623 Onset in neonatal period 
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 HP:0004918 hyperchloremic metabolic acidosis 
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 HP:0025354 Abnormal cellular phenotype "An anomaly of cellular morphology or physiology." []
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 HP:0100651 Diabetes mellitus Type I 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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