1. Gene
  2. NEUROD2 - neuronal differentiation 2 Gene

NEUROD2 - neuronal differentiation 2 Gene

中文名称:神经元分化 2

种属: Homo sapiens

同用名: NDRF; DEE72; EIEE72; bHLHa1

基因 ID: 4761 | 基因类型: protein coding

关于 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).

功能概要

该基因编码神经源性基本螺旋-环-螺旋 (bHLH) 蛋白 neuroD 家族的成员。该基因的表达可以诱导神经元特异性启动子的转录,例如 GAP-43 启动子,它包含称为 E-box 的特定 DNA 序列。人类基因的产物可以诱导非洲爪蟾胚胎中非神经元细胞的神经源性分化,并被认为在神经元细胞命运的决定和维持中发挥作用。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_006160.4 NP_006151.3 neurogenic differentiation factor 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

NEUROD2 蛋白结构

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.
蛋白主名 其他名称

neurogenic differentiation factor 2

class A basic helix-loop-helix protein 1

NEUROD2 抗体

目录号 产品名 应用 反应物种
HY-P82624 NeuroD2 Antibody (YA2369) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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