2. Gene
  3. ASCL2 - achaete-scute family bHLH transcription factor 2 Gene

ASCL2 - achaete-scute family bHLH transcription factor 2 Gene

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

中文名称：achaete-scute 家族 bHLH 转录因子 2

种属: Homo sapiens

同用名: ASH2; HASH2; MASH2; bHLHa45

基因 ID: 430 | 基因类型: protein coding

关于 ASCL2

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:2,268,498-2,270,588 (from NCBI)

This gene has 1 transcript (splice variant), 255 orthologues and 4 paralogues. Broad expression in colon (RPKM 4.3), placenta (RPKM 2.5) and 14 other tissues.

功能概要

该基因是基本螺旋-环-螺旋 (BHLH) 转录因子家族的成员。它通过结合 E 盒 (5'-CANNTG-3') 来激活转录。有效的 DNA 结合需要与其他 BHLH 蛋白二聚化。参与周围神经系统和中枢神经系统神经元前体的测定。[RefSeq 提供，2008 年 7 月]

This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with Other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]

ASCL2 基因产物(1)

mRNA Protein Name
NM_005170.3 NP_005161.1 achaete-scute homolog 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
14561729 GOA
enables E-box binding IDA
IDA: 通过直接分析推断
14561729 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
14561729 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
14561729 GOA
involved in response to hypoxia IEP
IEP: 通过表达模式推断
14561729 GOA
involved in spongiotrophoblast layer development IEP
IEP: 通过表达模式推断
12917334 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
12917334 GOA
located in nucleus IDA
IDA: 通过直接分析推断
11440538 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

ASCL2 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (54 - 103)

  • 0
  • 100
  • 193 a.a.
蛋白主名 其他名称

achaete-scute homolog 2

achaete-scute complex homolog 2

关联疾病

疾病名称 别名
Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism
Colonic Benign Neoplasm

Colon Neoplasm

Colonic Mass

Colonic Tumor

Neoplasm Of Colon

Neoplasm Of The Colon

Colonic Neoplasms

Colon Cancer

Colon Carcinoma Nos

Colonic Cancer

Metastatic Colon Cancer Nos
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01079 ASCL2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20860 Ascl2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27375 Ascl2 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ASCL2 VGNC VGNC:38174
Bos taurus ASCL2 VGNC VGNC:26207
Felis catus ASCL2 VGNC VGNC:68332
Mus musculus ASCL2 MGD MGI:96920
Rattus norvegicus ASCL2 RGD RGD:2159
Macaca mulatta ASCL2 VGNC VGNC:70030
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