1. Gene
  2. GSX2 - GS homeobox 2 Gene

GSX2 - GS homeobox 2 Gene

中文名称:GS 同源框 2

种属: Homo sapiens

同用名: GSH2; DMJDS2

基因 ID: 170825 | 基因类型: protein coding

关于 GSX2

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:54,100,163-54,102,498 (from NCBI)

This gene has 3 transcripts (splice variants), 198 orthologues, 42 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

功能概要

启用 DNA 结合转录因子活性、RNA 聚合酶 II 特异性和序列特异性双链 DNA 结合活性。预计参与 RNA 聚合酶 II 的转录调控。预计在几个过程的上游或内部起作用,包括神经系统发育; Notch 信号通路的正调控;以及通过神经系统过程调节呼吸气体交换。位于细胞质和细胞核中。 [由基因组资源联盟提供,2022 年 4 月]

Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; positive regulation of Notch signaling pathway; and regulation of respiratory gaseous exchange by nervous system process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

GSX2 基因产物(1)

mRNA Protein Name
NM_133267.3 NP_573574.2 GS homeobox 2
基因本体论
  • 分子功能
  • 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 IMP
IMP: 通过突变表型推断
31412107 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IMP
IMP: 通过突变表型推断
31412107 GOA
located in nucleus IMP
IMP: 通过突变表型推断
31412107 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

GSX2 蛋白结构

Homeobox

Homeobox: Homeobox domain (203 - 259)

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

GS homeobox 2

genetic-screened homeobox 2

关联疾病

疾病名称 别名
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2

DMJDS2

Spastic Tetraparesis, Dystonia, Developmental Delay, And Structural Abnormalities Of The Basal Ganglia

Diencephalic-Mesencephalic Junction Dysplasia

Diencephalic-Mesencephalic Junction Dysplasia Syndrome

Alcohol-Related Birth Defects

Arbd

Alcohol-Related Birth Defect

Alcohol Related Birth Defect

Fetal Alcohol Syndrome

Atrophy Of Testis

Atrophic Testicle

Atrophy Of Testicle

Testicular Atrophy

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Canis familiaris GSX2 VGNC VGNC:41539
Mus musculus GSX2 MGD MGI:95843
Bos taurus GSX2 VGNC VGNC:29689
Macaca mulatta GSX2 VGNC VGNC:106589
Rattus norvegicus GSX2 RGD RGD:1308047
Felis catus GSX2 VGNC VGNC:62733