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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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NEUROG1
neurogenin 1
Chromosome 5 Β· 5q31.1
NCBI Gene: 4762Ensembl: ENSG00000181965.6HGNC: HGNC:7764UniProt: F1T0H3
30PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
inner ear developmentneuromuscular process controlling balancenegative regulation of saliva secretionmasticationcranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delayneurodegenerative diseasemale reproductive organ cancerPatent ductus arteriosus
✦AI Summary

NEUROG1 (neurogenin 1) is a basic helix-loop-helix transcriptional regulator that functions as a core driver of neurogenesis 1. It acts by binding E-box elements (5'-CANNTG-3') in chr5 to activate transcription of genes encoding key neurogenic regulators 2. During neocortical development, NEUROG1 is highly expressed in basal neural progenitor cells and specifies excitatory neuronal identity in dorsal telencephalic neural progenitor cells 21. NEUROG1 and NEUROG2 are necessary and sufficient to transactivate downstream targets including NEUROD1, EOMES, and RND2, with NEUROG1-derived lineages predominating early in human cortical development 2. When overexpressed in human pluripotent stem cells, NEUROG1 rapidly drives neuronal differentiation, producing functional spiking neurons suitable for disease modeling 34. Clinically, biallelic NEUROG1 variants cause congenital cranial dysinnervation disorder characterized by absent corneal reflexes, hearing loss, corneal opacity, and developmental delay 5. Additionally, NEUROG1 DNA methylation is frequently detected in serum of colorectal cancer patients independent of tumor stage, showing 61% sensitivity at 91% specificity for early cancer detection 6. These findings establish NEUROG1 as essential for normal neurogenesis and identify its epigenetic dysregulation as relevant to cancer biology.

Sources cited
1
NEUROG1 is a core proneural gene driver of neurogenesis that specifies excitatory neuronal identity in dorsal telencephalic neural progenitor cells
PMID: 40545564
2
NEUROG1 is highly expressed in basal neural progenitor cells with NEUROG1-derived lineages predominating early in human cortical development
PMID: 39680368
3
NEUROG1 overexpression drives neuronal differentiation and produces functional neurons for disease modeling
PMID: 38102126
4
NEUROG1 and NEUROG2 overexpression produces excitatory and inhibitory neuronal networks with synaptic transmission
PMID: 30698461
5
Biallelic NEUROG1 variants cause congenital cranial dysinnervation disorder with absent corneal reflexes, hearing loss, and developmental delay
PMID: 36647078
6
NEUROG1 DNA methylation in serum is a sensitive biomarker for colorectal cancer detection with 61% sensitivity at 91% specificity
PMID: 21326223
Disease Associationsβ“˜21
cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delayOpen Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
male reproductive organ cancerOpen Targets
0.09Suggestive
Patent ductus arteriosusOpen Targets
0.07Suggestive
bipolar disorderOpen Targets
0.05Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease type 4EOpen Targets
0.04Suggestive
Abruptio PlacentaeOpen Targets
0.03Suggestive
Worster-Drought syndromeOpen Targets
0.03Suggestive
adenomaOpen Targets
0.03Suggestive
Mental deteriorationOpen Targets
0.03Suggestive
nasopharyngeal carcinomaOpen Targets
0.03Suggestive
non-alcoholic steatohepatitisOpen Targets
0.03Suggestive
schizophreniaOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.02Suggestive
medulloblastomaOpen Targets
0.02Suggestive
autismOpen Targets
0.02Suggestive
strokeOpen Targets
0.01Suggestive
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delayUniProt
Pathogenic Variants4
NM_006161.3(NEUROG1):c.298C>A (p.Arg100Ser)Likely pathogenic
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
β˜…β˜†β˜†β˜†2025β†’ Residue 100
NM_006161.3(NEUROG1):c.228_231dup (p.Thr78fs)Likely pathogenic
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay|See cases
β˜…β˜†β˜†β˜†2021β†’ Residue 78
NM_006161.3(NEUROG1):c.347G>T (p.Arg116Leu)Pathogenic
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
β˜†β˜†β˜†β˜†2023β†’ Residue 116
NM_006161.3(NEUROG1):c.202G>T (p.Glu68Ter)Pathogenic
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
β˜†β˜†β˜†β˜†2023β†’ Residue 68
View on ClinVar β†—
Related Genes
TCF12Protein interaction96%ASCL1Protein interaction89%CACNA1GProtein interaction77%POU4F1Protein interaction76%LHX2Protein interaction75%CRABP1Protein interaction74%
Tissue Expression6 tissues
Brain
100%
Heart
0%
Lung
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
NEUROG1TCF12ASCL1CACNA1GPOU4F1LHX2CRABP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q92886
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.79LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.11 [0.66–1.79]
RankingsWhere NEUROG1 stands among ~20K protein-coding genes
  • #11,981of 20,598
    Most Researched30
  • #3,833of 5,498
    Most Pathogenic Variants4
  • #16,518of 17,882
    Most Constrained (LOEUF)1.79
Genes detectedNEUROG1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Examining the NEUROG2 lineage and associated gene expression in human cortical organoids.
PMID: 39680368
Development Β· 2025
1.00
2
Essential transcription factors for induced neuron differentiation.
PMID: 38102126
Nat Commun Β· 2023
0.90
3
Overexpression of NEUROG2 and NEUROG1 in human embryonic stem cells produces a network of excitatory and inhibitory neurons.
PMID: 30698461
FASEB J Β· 2019
0.80
4
A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report.
PMID: 36647078
BMC Neurol Β· 2023
0.70
5
Neocortical neurogenesis: a proneural gene perspective.
PMID: 40545564
FEBS J Β· 2025
0.60