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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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NEUROD1
neuronal differentiation 1
Chromosome 2 Β· 2q31.3
NCBI Gene: 4760Ensembl: ENSG00000162992.5HGNC: HGNC:7762UniProt: A0A0S2Z493
138PubMed Papers
22Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA polymerase II transcription regulator complexDNA-binding transcription factor activityinsulin secretionprotein bindingmaturity-onset diabetes of the young type 6MODYtype 2 diabetes mellitusmaturity-onset diabetes of the young
✦AI Summary

NEUROD1 is a transcriptional activator that binds to E-box DNA sequences and plays critical roles in defining molecular subtypes of neuroendocrine tumors. In small cell lung carcinoma (SCLC), NEUROD1 expression defines a distinct molecular subtype, with NEUROD1-dominant tumors representing approximately 17% of SCLC cases and exhibiting high neuroendocrine marker expression 1. NEUROD1 functions as part of a temporal evolution program in SCLC, where tumors can transition from ASCL1+ to NEUROD1+ states through MYC-driven reprogramming 2. The transcription factor regulates distinct genetic programs compared to ASCL1, including targeting MYC, and contributes to neuronal function pathways 3. NEUROD1 expression marks subtype plasticity in lung cancer, with KDM6A loss promoting ASCL1-to-NEUROD1 switching through epigenetic mechanisms 4. Beyond lung cancer, NEUROD1 is implicated in pancreatic cancer, where it defines the aberrantly differentiated endocrine exocrine (ADEX) subtype and regulates endocrine differentiation networks 5. In prostate cancer, NEUROD1 is expressed in neuroendocrine regions alongside ASCL1, though ASCL1 appears to be the dominant driver of neuroendocrine differentiation 6. These findings establish NEUROD1 as a key regulator of neuroendocrine cell fate specification across multiple cancer types.

Sources cited
1
NEUROD1-dominant tumors represent 17% of SCLC cases with high neuroendocrine marker expression
PMID: 33011388
2
MYC drives temporal evolution from ASCL1+ to NEUROD1+ states in SCLC
PMID: 32473656
3
NEUROD1 targets MYC and regulates distinct genetic programs from ASCL1
PMID: 27452466
4
KDM6A loss promotes ASCL1-to-NEUROD1 subtype switching through epigenetic mechanisms
PMID: 37591951
5
NEUROD1 defines the ADEX subtype in pancreatic cancer and regulates endocrine differentiation
PMID: 26909576
6
NEUROD1 is expressed in neuroendocrine regions of prostate cancer alongside ASCL1
PMID: 39264686
Disease Associationsβ“˜22
maturity-onset diabetes of the young type 6Open Targets
0.73Strong
MODYOpen Targets
0.68Moderate
type 2 diabetes mellitusOpen Targets
0.67Moderate
maturity-onset diabetes of the youngOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeOpen Targets
0.38Weak
retinopathyOpen Targets
0.37Weak
retinitis pigmentosaOpen Targets
0.37Weak
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesisOpen Targets
0.37Weak
Retinal dystrophyOpen Targets
0.33Weak
monogenic diabetesOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
HypoinsulinemiaOpen Targets
0.12Weak
small cell lung carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
strokeOpen Targets
0.10Suggestive
Mobius syndromeOpen Targets
0.09Suggestive
attention deficit hyperactivity disorderOpen Targets
0.08Suggestive
Nijmegen breakage syndromeOpen Targets
0.08Suggestive
subarachnoid hemorrhageOpen Targets
0.08Suggestive
Maturity-onset diabetes of the young 6UniProt
Type 2 diabetes mellitusUniProt
Pathogenic Variants5
NM_002500.5(NEUROD1):c.328G>C (p.Glu110Gln)Likely pathogenic
Maturity-onset diabetes of the young type 6
β˜…β˜†β˜†β˜†2025β†’ Residue 110
NM_002500.5(NEUROD1):c.764C>T (p.Pro255Leu)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 255
NM_002500.5(NEUROD1):c.341T>A (p.Met114Lys)Likely pathogenic
NEUROD1-related disorder|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 114
NM_002500.5(NEUROD1):c.332G>T (p.Arg111Leu)Pathogenic
Type 2 diabetes mellitus
β˜†β˜†β˜†β˜†1999β†’ Residue 111
NM_002500.5(NEUROD1):c.309C>G (p.Arg103=)Pathogenic
Maturity-onset diabetes of the young type 6
β˜†β˜†β˜†β˜†β†’ Residue 103
View on ClinVar β†—
Related Genes
TCF3Protein interaction99%EP300Protein interaction99%TCF12Protein interaction99%SLC2A2Protein interaction96%ABCC8Protein interaction95%INSProtein interaction95%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
1%
Liver
0%
Lung
0%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
NEUROD1TCF3EP300TCF12SLC2A2ABCC8INS
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q13562
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.69LoF Tolerant
pLIβ“˜
0.42Tolerant
Observed/Expected LoF0.39 [0.24–0.69]
RankingsWhere NEUROD1 stands among ~20K protein-coding genes
  • #3,346of 20,598
    Most Researched138 Β· top quartile
  • #3,504of 5,498
    Most Pathogenic Variants5
  • #5,174of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedNEUROD1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Molecular subtypes of small cell lung cancer: a synthesis of human and mouse model data.
PMID: 30926931
Nat Rev Cancer Β· 2019
1.00
2
Genomic analyses identify molecular subtypes of pancreatic cancer.
PMID: 26909576
Nature Β· 2016
0.90
3
SCLC Subtypes Defined by ASCL1, NEUROD1, POU2F3, and YAP1: A Comprehensive Immunohistochemical and Histopathologic Characterization.
PMID: 33011388
J Thorac Oncol Β· 2020
0.80
4
MYC Drives Temporal Evolution of Small Cell Lung Cancer Subtypes by Reprogramming Neuroendocrine Fate.
PMID: 32473656
Cancer Cell Β· 2020
0.70
5
Revisiting astrocyte to neuron conversion with lineage tracing inΒ vivo.
PMID: 34582787
Cell Β· 2021
0.60