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  2. HES3 - hes family bHLH transcription factor 3 Gene

HES3 - hes family bHLH transcription factor 3 Gene

中文名称:hes 家族 bHLH 转录因子 3

种属: Homo sapiens

同用名: bHLHb43

基因 ID: 390992 | 基因类型: protein coding

关于 HES3

Cytogenetic location: 1p36.31 Genomic coordinates (GRCh38): 1:6,244,179-6,245,578 (from NCBI)

This gene has 1 transcript (splice variant), 157 orthologues and 12 paralogues. Low expression observed in reference dataset.

功能概要

预测启用 DNA 结合转录抑制活性,RNA 聚合酶 II 特异性;邮箱绑定活动;和 N-box 绑定活动。预计参与多个过程,包括 Notch 信号通路;神经元分化的负调节;和神经发生的调节。预计在几个过程的上游或内部起作用,包括神经系统发育;调节神经元分化的时间; RNA 聚合酶 II 对转录的调控。预测是染色质的一部分。预计活跃于核心。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; E-box binding activity; and N-box binding activity. Predicted to be involved in several processes, including Notch signaling pathway; negative regulation of neuron differentiation; and regulation of neurogenesis. Predicted to act upstream of or within several processes, including nervous system development; regulation of timing of neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

HES3 基因产物(1)

mRNA Protein Name
NM_001024598.4 NP_001019769.1 transcription factor HES-3

HES3 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (1 - 50)

  • 0
  • 100
  • 186 a.a.
蛋白主名 其他名称

transcription factor HES-3

class B basic helix-loop-helix protein 43

关联疾病

疾病名称 别名
Robinow Syndrome, Autosomal Dominant 3

Autosomal Dominant Robinow Syndrome 3

DRS3

Robinow, Autosomal Dominant Syndrome, Type 3

Cardiomyopathy, Dilated, 1x

Dilated Cardiomyopathy 1x

CMD1X

Dilated Cardiomyopathy With Mild Or No Proximal Muscle Weakness

Cardiomyopathy, Dilated, With Mild Or No Proximal Muscle Weakness

Cardiomyopathy, Dilated 1x

Cardiomyopathy, Dilated, Type 1x

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

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
Felis catus HES3 VGNC VGNC:107552
Macaca mulatta HES3 VGNC VGNC:106380
Canis familiaris HES3 VGNC VGNC:49829
Mus musculus HES3 MGD MGI:104877
Bos taurus HES3 VGNC VGNC:29820
Rattus norvegicus HES3 RGD RGD:621339