1. Gene
  2. ARNT2 - aryl hydrocarbon receptor nuclear translocator 2 Gene

ARNT2 - aryl hydrocarbon receptor nuclear translocator 2 Gene

中文名称:芳烃受体核转运蛋白 2

种属: Homo sapiens

同用名: WEDAS; bHLHe1

基因 ID: 9915 | 基因类型: protein coding

关于 ARNT2

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:80,404,382-80,597,933 (from NCBI)

This gene has 8 transcripts (splice variants), 215 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 65.1), kidney (RPKM 9.7) and 5 other tissues.

功能概要

该基因编码基本螺旋-环-螺旋-Per-Arnt-Sim (bHLH-PAS) 转录因子超家族的成员。编码的蛋白质作为 bHLH-PAS 家族的几种传感器蛋白的伙伴,与传感器蛋白形成异二聚体,这些传感器蛋白结合对发育和环境刺激有反应的基因中的调节 DNA 序列。在缺氧条件下,编码的蛋白质与细胞核中的缺氧诱导因子 1alpha 形成复合物,该复合物与氧反应基因增强子和启动子中的缺氧反应元件结合。小鼠中高度相似的蛋白质与芳基烃受体和单一蛋白质形成功能复合物,这表明编码蛋白质分别在异生化合物的代谢和神经发生的调节中具有额外的作用。[RefSeq 提供,2013 年 12 月]

This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]

ARNT2 基因产物(1)

mRNA Protein Name
NM_014862.4 NP_055677.3 aryl hydrocarbon receptor nuclear translocator 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 factor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
24465693 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24465693 GOA
enables protein heterodimerization activity IDA
IDA: 通过直接分析推断
24465693 GOA
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
12239177 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 brain development IMP
IMP: 通过突变表型推断
24022475 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
24465693 GOA
acts upstream of or within regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
11782478 GOA
involved in response to hypoxia IDA
IDA: 通过直接分析推断
12239177 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
12239177 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

ARNT2 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (65 - 116)

PAS

PAS: PAS fold (140 - 243)

PAS_11

PAS_11: PAS domain (336 - 437)

  • 0
  • 200
  • 400
  • 600
  • 717 a.a.
蛋白主名 其他名称

aryl hydrocarbon receptor nuclear translocator 2

ARNT protein 2

ARNT2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ARNT2 Q9HBZ2 LMO2 Homo sapiens P25791-3
Validated Y2H
32296183
种属内
ARNT2 Q9HBZ2 FAAP20 Homo sapiens Q6NZ36-4
Validated Y2H
32296183
种属内
ARNT2 Q9HBZ2 SIM1 Homo sapiens P81133
Validated Y2H
32296183
种属内
ARNT2 Q9HBZ2 CAPN7 Homo sapiens Q9Y6W3
Validated Y2H
32296183
种属内
ARNT2 Q9HBZ2 AP3M1 Homo sapiens Q9Y2T2
Validated Y2H
32296183
种属内
ARNT2 Q9HBZ2 LMO4 Homo sapiens P61968
Validated Y2H
32296183
种属内
ARNT2 Q9HBZ2 PSMB1 Homo sapiens P20618
Validated Y2H
32296183
种属内
ARNT2 Q9HBZ2 AP1M1 Homo sapiens Q9BXS5
Validated Y2H
32296183
种属内
ARNT2 Q9HBZ2 DTX2 Homo sapiens Q86UW9
Y2H Array
24722188
种属内
ARNT2 Q9HBZ2 DTX2 Homo sapiens Q86UW9
Validated Y2H
32296183
种属内
ARNT2 Q9HBZ2 STK16 Homo sapiens O75716
Validated Y2H
32296183
种属内
ARNT2 Q9HBZ2 OSGIN1 Homo sapiens Q9UJX0
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Webb-Dattani Syndrome

WEDAS

Hypothalamo-Pituitary-Frontotemporal Hypoplasia With Visual And Renal Anomalies

Septooptic Dysplasia

Septo-Optic Dysplasia

De Morsier Syndrome

Growth Hormone Deficiency With Pituitary Anomalies

SOD

Pituitary Hormone Deficiency, Combined, 5

Septo-Optic Dysplasia Spectrum

Septo-Optic Dysplasia With Growth Hormone Deficiency

Pituitary Hormone Deficiency, Combined 5

Hypopituitarism And Septooptic 'Dysplasia'

GHDPA

CPHD5

Dysplasia, Septo-Optic

Kallmann Syndrome

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

Atrial Septal Defect 6

ASD6

Atrial Heart Septal Defect 6

Septal Defect, Atrial, Type 6

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ARNT2 VGNC VGNC:84309
Mus musculus ARNT2 MGD MGI:107188
Rattus norvegicus ARNT2 RGD RGD:2154
Felis catus ARNT2 VGNC VGNC:81035
Canis familiaris ARNT2 VGNC VGNC:53147