2. Gene
  3. THOC6 - THO complex subunit 6 Gene

THOC6 - THO complex subunit 6 Gene

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

中文名称：THO 复合亚基 6

种属: Homo sapiens

同用名: WDR58; fSAP35

基因 ID: 79228 | 基因类型: protein coding

关于 THOC6

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:3,024,035-3,027,750 (from NCBI)

This gene has 10 transcripts (splice variants), 186 orthologues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 12.6), skin (RPKM 10.4) and 25 other tissues.

功能概要

该基因编码多蛋白 THO 复合物的一个亚基，参与转录和 mRNA 加工之间的协调。 THO 复合体是 TREX (转录/输出) 复合体的一个组成部分，它参与 mRNA 的转录和输出。该基因的错义突变与称为 Beaulieu-Boycott-Innes 综合征的神经发育障碍有关。[RefSeq 提供，2016 年 12 月]

This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]

THOC6 基因产物(4)

mRNA Protein Name
NM_001142350.3 NP_001135822.1 THO complex subunit 6 homolog isoform 2
NM_001347703.2 NP_001334632.1 THO complex subunit 6 homolog isoform 3
NM_001347704.2 NP_001334633.1 THO complex subunit 6 homolog isoform 1
NM_024339.5 NP_077315.2 THO complex subunit 6 homolog isoform 1
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in central nervous system development IMP
IMP: 通过突变表型推断
23621916 GOA
involved in mRNA export from nucleus IDA
IDA: 通过直接分析推断
17190602 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of THO complex IDA
IDA: 通过直接分析推断
15998806 GOA
part of THO complex part of transcription export complex IDA
IDA: 通过直接分析推断
15998806 GOA
colocalizes with chromosome, telomeric region IDA
IDA: 通过直接分析推断
24270157 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23621916 GOA
part of transcription export complex IDA
IDA: 通过直接分析推断
15833825 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

THOC6 蛋白结构

WD40

WD40: WD domain, G-beta repeat (159 - 196)

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

THO complex subunit 6 homolog

THO complex 6

关联疾病

疾病名称 别名
Beaulieu-Boycott-Innes Syndrome

BBIS

Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome

Microcephaly, Mental Retardation, And Distinctive Facies, With Cardiac And Genitourinary Malformations
Locked-In Syndrome

Locked In Syndrome

Cerebromedullospinal Disconnection

Locked-In State

Quadriplegia
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-RS14495 THOC6 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus THOC6 MGD MGI:2677480
Bos taurus THOC6 VGNC VGNC:35842
Macaca mulatta THOC6 VGNC VGNC:79703
Felis catus THOC6 VGNC VGNC:66168
Rattus norvegicus THOC6 RGD RGD:708553
Canis familiaris THOC6 VGNC VGNC:47352
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