2. Gene
  3. BHLHE22 - basic helix-loop-helix family member e22 Gene

BHLHE22 - basic helix-loop-helix family member e22 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：基本螺旋-环-螺旋家族成员 e22

种属: Homo sapiens

同用名: Beta3; BHLHB5; Beta3a; CAGL85; TNRC20

基因 ID: 27319 | 基因类型: protein coding

关于 BHLHE22

Cytogenetic location: 8q12.3 Genomic coordinates (GRCh38): 8:64,580,365-64,583,627 (from NCBI)

This gene has 1 transcript (splice variant), 179 orthologues and 15 paralogues.

功能概要

该基因编码的蛋白质属于基本螺旋-环-螺旋 (bHLH) 转录因子家族，可调节细胞命运决定、增殖和分化。小鼠中的一种类似蛋白质是耳蜗背核发育所必需的，并且被认为在参与感觉输入的神经元的分化中发挥作用。小鼠蛋白还在视网膜形成中发挥作用。[RefSeq 提供，2016 年 10 月]

This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]

BHLHE22 基因产物(1)

mRNA Protein Name
NM_152414.5 NP_689627.1 class E basic helix-loop-helix protein 22
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

BHLHE22 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (244 - 295)

  • 0
  • 100
  • 200
  • 300
  • 381 a.a.
蛋白主名 其他名称

class E basic helix-loop-helix protein 22

basic helix-loop-helix domain containing, class B, 5

关联疾病

疾病名称 别名
Hermansky-Pudlak Syndrome 2

HPS2

Hermansky Pudlak Syndrome 2

Platelet Defects And Oculocutaneous Albinism

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 2

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01492 BHLHE22 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta BHLHE22 VGNC VGNC:83983
Bos taurus BHLHE22 VGNC VGNC:26484
Rattus norvegicus BHLHE22 RGD RGD:1305451
Mus musculus BHLHE22 MGD MGI:1930001
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