NEUROD1 Chromosome 2
Neuronal differentiation 1
Upload your DNA to see your personal genotypes for variants in NEUROD1.
What This Gene Does
This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
2q31.3
Ensembl
ENSG00000162992
Associated Conditions (7)
NEUROD1-related disorder
Maturity-onset diabetes of the young type 6
Type 2 diabetes mellitus
Retinal dystrophy
Inborn genetic diseases
Monogenic diabetes
Hypoinsulinemia
Key Variants
RS142123958
Conflicting classifications of pathogenicity
NEUROD1-related disorder, NEUROD1-related disorder
Health Risk
RS368727469
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 6
Health Risk
RS375774931
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 6
Health Risk
RS387906384
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 6, NEUROD1-related disorder, Maturity-onset diabetes of the young type 6
Health Risk
RS556400603
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 6
Health Risk
RS561017686
Conflicting classifications of pathogenicity
Health Risk
RS753690348
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus
Health Risk
RS754458532
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus, Retinal dystrophy
Health Risk
RS8192556
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 6, Monogenic diabetes, Hypoinsulinemia
Health Risk
RS2105594483
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS2468610661
Likely pathogenic
NEUROD1-related disorder, NEUROD1-related disorder
Health Risk
RS104893649
Pathogenic
Type 2 diabetes mellitus, Type 2 diabetes mellitus
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142123958 | Health Risk | Conflicting classifications of pathogenicity | NEUROD1-related disorder, NEUROD1-related disorder |
| RS368727469 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 6 |
| RS375774931 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 6 |
| RS387906384 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 6, NEUROD1-related disorder, Maturity-onset diabetes of the young type 6 |
| RS556400603 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 6 |
| RS561017686 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753690348 | Health Risk | Conflicting classifications of pathogenicity | Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus |
| RS754458532 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus, Retinal dystrophy |
| RS8192556 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 6, Monogenic diabetes, Hypoinsulinemia |
| RS2105594483 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2468610661 | Health Risk | Likely pathogenic | NEUROD1-related disorder, NEUROD1-related disorder |
| RS104893649 | Health Risk | Pathogenic | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS149703259 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 6, Maturity-onset diabetes of the young type 6 |