Human Gene NEUROG3 (ENST00000242462.5) from GENCODE V44
Description: Homo sapiens neurogenin 3 (NEUROG3), mRNA. (from RefSeq NM_020999) RefSeq Summary (NM_020999): 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]. Gencode Transcript: ENST00000242462.5 Gencode Gene: ENSG00000122859.5 Transcript (Including UTRs) Position: hg38 chr10:69,571,698-69,573,422 Size: 1,725 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr10:69,572,399-69,573,043 Size: 645 Coding Exon Count: 1
ID:NGN3_HUMAN DESCRIPTION: RecName: Full=Neurogenin-3; Short=NGN-3; AltName: Full=Class A basic helix-loop-helix protein 7; Short=bHLHa7; AltName: Full=Protein atonal homolog 5; 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). SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein (By similarity). SUBCELLULAR LOCATION: Nucleus (Potential). DISEASE: Defects in NEUROG3 are the cause of diarrhea type 4 (DIAR4) [MIM:610370]. DIAR4 is a characterized by severe, life- threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y4Z2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001047 core promoter binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003690 double-stranded DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003713 transcription coactivator activity GO:0005515 protein binding GO:0031490 chromatin DNA binding GO:0046983 protein dimerization activity
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007399 nervous system development GO:0007417 central nervous system development GO:0007422 peripheral nervous system development GO:0021510 spinal cord development GO:0022008 neurogenesis GO:0030154 cell differentiation GO:0030855 epithelial cell differentiation GO:0030900 forebrain development GO:0030902 hindbrain development GO:0031018 endocrine pancreas development GO:0045597 positive regulation of cell differentiation GO:0045666 positive regulation of neuron differentiation GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048814 regulation of dendrite morphogenesis GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity GO:0060290 transdifferentiation
LF212338 - JP 2014500723-A/19841: Polycomb-Associated Non-Coding RNAs. MA447915 - JP 2018138019-A/19841: Polycomb-Associated Non-Coding RNAs. LF213184 - JP 2014500723-A/20687: Polycomb-Associated Non-Coding RNAs. MA448761 - JP 2018138019-A/20687: Polycomb-Associated Non-Coding RNAs. BC069098 - Homo sapiens neurogenin 3, mRNA (cDNA clone MGC:95373 IMAGE:7216912), complete cds. JD477015 - Sequence 458039 from Patent EP1572962. BC117488 - Homo sapiens neurogenin 3, mRNA (cDNA clone MGC:151097 IMAGE:40126039), complete cds. BC126468 - Homo sapiens neurogenin 3, mRNA (cDNA clone MGC:161746 IMAGE:8992184), complete cds. JD166152 - Sequence 147176 from Patent EP1572962. JD185831 - Sequence 166855 from Patent EP1572962. JD045361 - Sequence 26385 from Patent EP1572962. JD491072 - Sequence 472096 from Patent EP1572962. JD045716 - Sequence 26740 from Patent EP1572962. JD410757 - Sequence 391781 from Patent EP1572962. JD538562 - Sequence 519586 from Patent EP1572962. BC074938 - Homo sapiens neurogenin 3, mRNA (cDNA clone MGC:103886 IMAGE:30915270), complete cds. BC074939 - Homo sapiens neurogenin 3, mRNA (cDNA clone MGC:104047 IMAGE:30915493), complete cds. AK313952 - Homo sapiens cDNA, FLJ94597, highly similar to Homo sapiens neurogenin 3 (NEUROG3), mRNA. HQ258759 - Synthetic construct Homo sapiens clone IMAGE:100072789 neurogenin 3 (NEUROG3) gene, encodes complete protein. KJ893756 - Synthetic construct Homo sapiens clone ccsbBroadEn_03150 NEUROG3 gene, encodes complete protein. KR711636 - Synthetic construct Homo sapiens clone CCSBHm_00027913 NEUROG3 (NEUROG3) mRNA, encodes complete protein. KR711637 - Synthetic construct Homo sapiens clone CCSBHm_00027914 NEUROG3 (NEUROG3) mRNA, encodes complete protein. KR711638 - Synthetic construct Homo sapiens clone CCSBHm_00027915 NEUROG3 (NEUROG3) mRNA, encodes complete protein. KR711639 - Synthetic construct Homo sapiens clone CCSBHm_00027916 NEUROG3 (NEUROG3) mRNA, encodes complete protein. EU446872 - Synthetic construct Homo sapiens clone IMAGE:100069868; IMAGE:100012081; FLH258574.01L neurogenin 3 (NEUROG3) gene, encodes complete protein. AB464635 - Synthetic construct DNA, clone: pF1KB9632, Homo sapiens NEUROG3 gene for neurogenin 3, without stop codon, in Flexi system. GQ904714 - Homo sapiens neurogenin 3 (NEUROG3) mRNA, partial cds. JD537974 - Sequence 518998 from Patent EP1572962. JD217437 - Sequence 198461 from Patent EP1572962. JD290343 - Sequence 271367 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04950 - Maturity onset diabetes of the young
Reactome (by CSHL, EBI, and GO)
Protein Q9Y4Z2 (Reactome details) participates in the following event(s):
R-HSA-210744 Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells R-HSA-186712 Regulation of beta-cell development R-HSA-1266738 Developmental Biology
US Server
