NEUROD2 Chromosome 17
Neuronal differentiation 2
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What This Gene Does
This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
17q12
Ensembl
ENSG00000171532
Associated Conditions (3)
Inborn genetic diseases
Developmental and epileptic encephalopathy
72
Key Variants
RS145445629
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751852085
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2056767185
Likely pathogenic
Health Risk
RS1323339153
Pathogenic
Developmental and epileptic encephalopathy, 72, Developmental and epileptic encephalopathy
Health Risk
RS1567841596
Pathogenic
Developmental and epileptic encephalopathy, 72, Developmental and epileptic encephalopathy
Health Risk
RS558808033
Pathogenic
Developmental and epileptic encephalopathy, 72, Developmental and epileptic encephalopathy
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145445629 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751852085 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2056767185 | Health Risk | Likely pathogenic | — |
| RS1323339153 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 72, Developmental and epileptic encephalopathy |
| RS1567841596 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 72, Developmental and epileptic encephalopathy |
| RS558808033 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 72, Developmental and epileptic encephalopathy |