NEUROD1 neuronal differentiation 1
Gene ID: 4760, updated on 13-Apr-2024Gene type: protein coding
Also known as: T2D; BETA2; BHF-1; MODY6; NEUROD; bHLHa3
- See all available tests in GTR for this gene
- Go to complete Gene record for NEUROD1
- Go to Variation Viewer for NEUROD1 variants
Summary
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]
Associated conditions
Genomic context
- Location:
- 2q31.3
- Sequence:
- Chromosome: 2; NC_000002.12 (181668295..181680517, complement)
- Total number of exons:
- 4
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for NEUROD1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NEUROD1 database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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