NEUROG3
Neurogenin-3
Also known as: Atoh5, bHLHa7, Math4B, ngn3, NGN3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y4Z2
- Gene
- NEUROG3
- Ensembl
- ENSG00000122859
- Chromosome
- 10
- Canonical length
- 214 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear speckles
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
214 residues, UniProt reviewed canonical sequence.
>Q9Y4Z2|NEUROG3
1 MTPQPSGAPT VQVTRETERS FPRASEDEVT CPTSAPPSPT RTRGNCAEAE EGGCRGAPRK
61 LRARRGGRSR PKSELALSKQ RRSRRKKAND RERNRMHNLN SALDALRGVL PTFPDDAKLT
121 KIETLRFAHN YIWALTQTLR IADHSLYALE PPAPHCGELG SPGGSPGDWG SLYSPVSQAG
181 SLSPAASLEE RPGLLGATFS ACLSPGSLAF SDFLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NEUROG3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.65
- Highest tissue expression
- 2.4 nTPM
Expression across tissuesHPA
Tissue
- duodenum: 2.4 nTPM
- hippocampal formation: 2.3 nTPM
- small intestine: 1 nTPM
- colon: 0.5 nTPM
- rectum: 0.3 nTPM
- adipose tissue: 0.1 nTPM
Single-cell type
- neuroendocrine cells: 2.7 nCPM
- enteric transient amplifying cells: 0.9 nCPM
- goblet cells: 0.8 nCPM
- macrophages: 0.8 nCPM
- enteric stem cells: 0.7 nCPM
- brain excitatory neurons: 0.6 nCPM
Immune cell
- MAIT T-cell: 0.2 nTPM
- memory B-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- hippocampal formation: 11 nTPM
- cerebral cortex: 9.5 nTPM
- white matter: 0.6 nTPM
- cerebellum: 0.3 nTPM
- amygdala: 0.2 nTPM
- basal ganglia: 0.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NEUROG3.
Disease | AllUniProt
Conditions NEUROG3 is implicated in, by any mechanism.
- Diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency (DIAR4) MIM:610370
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 170 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital malabsorptive diarrhea 4
- NEUROG3-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.9
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.52
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axon development
- central nervous system development
- enteroendocrine cell differentiation
- forebrain development
- hindbrain development
- negative regulation of transcription by RNA polymerase II
- nervous system development
- peripheral nervous system development
- positive regulation of DNA-templated transcription
- positive regulation of neuron differentiation
- positive regulation of transcription by RNA polymerase II
- regulation of dendrite morphogenesis
- sensory organ development
- spinal cord development
- transdifferentiation
Molecular functions
- chromatin DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- E-box binding
- protein dimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Myc-type, basic helix-loop-helix (bHLH) domain
- Helix-loop-helix DNA-binding domain superfamily
- Basic helix-loop-helix transcription factors
- Helix-loop-helix DNA-binding domain
- Neurogenin-3, basic helix-loop-helix domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NEUROG3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NEUROG3 as an antibody target. Whether an autoantibody or antibody against NEUROG3 could matter depends on whether native NEUROG3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NEUROG3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NEUROG3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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