NEUROD2 - neuronal differentiation 2 Gene

Also Known as NDRF; DEE72; EIEE72; bHLHa1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4761

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
Molecular Function GO Annotation Evidence Verweise Source
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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)

  • 0
  • 100
  • 200
  • 300
  • 382 a.a.
Protein Preferred Names Protein Names

neurogenic differentiation factor 2

  • class A basic helix-loop-helix protein 1

NEUROD2 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P82624 NeuroD2 Antibody (YA2369) WB Human, Mouse, Rat

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
Others NEUROD2 NCBI