1. Gene
  2. NEUROD2 - neuronal differentiation 2 Gene

NEUROD2 - neuronal differentiation 2 Gene

Homo sapiens

Also known as NDRF; DEE72; EIEE72; bHLHa1

Gene ID: 4761 | Gene type: protein coding

About NEUROD2

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:39,603,768-39,607,920 (from NCBI)

This gene has 2 transcripts (splice variants), 254 orthologues, 15 paralogues and is associated with 2 phenotypes. Restricted expression toward brain (RPKM 7.8).

Summary

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]

NEUROD2 Products(1)

mRNA Protein Name
NM_006160.4 NP_006151.3 neurogenic differentiation factor 2

NEUROD2 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (122 - 173)

Neuro_bHLH

Neuro_bHLH: Neuronal helix-loop-helix transcription factor (180 - 310)

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  • 382 a.a.
Protein Preferred Names Protein Names

neurogenic differentiation factor 2

class A basic helix-loop-helix protein 1

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 72

DEE72

Epileptic Encephalopathy, Early Infantile, 72

Eiee72

Developmental And Epileptic Encephalopathy, 72

Early Infantile Epileptic Encephalopathy 72

Encephalopathy, Developmental And Epileptic, 72

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Cerebral Primitive Neuroectodermal Tumor

Pnet Of Cerebrum

Partial Fetal Alcohol Syndrome
Pitt-Hopkins Syndrome

PTHS

Encephalopathy, Severe Epileptic, With Autonomic Dysfunction

Mental Retardation, Syndromal, With Intermittent Hyperventilation

Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea

Pitt Hopkins Syndrome

Phs

Encephalopathy Severe Epileptic With Autonomic Dysfunction

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris NEUROD2 VGNC VGNC:43753
Felis catus NEUROD2 VGNC VGNC:68465
Mus musculus NEUROD2 MGD MGI:107755
Bos taurus NEUROD2 VGNC VGNC:32018
Rattus norvegicus NEUROD2 RGD RGD:3166
Macaca mulatta NEUROD2 VGNC VGNC:75321