1. Gene
  2. NOVA2 - NOVA alternative splicing regulator 2 Gene

NOVA2 - NOVA alternative splicing regulator 2 Gene

中文名称:NOVA 选择性剪接调节因子 2

种属: Homo sapiens

同用名: ANOVA; NOVA3; NEDASB; NOVA-2

基因 ID: 4858 | 基因类型: protein coding

关于 NOVA2

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:45,933,734-45,973,865 (from NCBI)

This gene has 4 transcripts (splice variants), 119 orthologues, 12 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 7.5), fat (RPKM 2.1) and 10 other tissues.

功能概要

启用序列特异性 mRNA 结合活性。通过剪接体参与神经元分化和选择性 mRNA 剪接的调节。预计在细胞质和细胞核中有活性。 [由基因组资源联盟提供,2022 年 4 月]

Enables sequence-specific mRNA binding activity. Involved in neuron differentiation and regulation of alternative mRNA splicing, via spliceosome. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

NOVA2 基因产物(1)

mRNA Protein Name
NM_002516.4 NP_002507.1 RNA-binding protein Nova-2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables RNA binding IDA
IDA: 通过直接分析推断
32197073 GOA
enables sequence-specific mRNA binding IDA
IDA: 通过直接分析推断
10811881 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in neuron differentiation IMP
IMP: 通过突变表型推断
32197073 GOA
involved in regulation of RNA metabolic process IMP
IMP: 通过突变表型推断
32197073 GOA
involved in regulation of alternative mRNA splicing, via spliceosome IMP
IMP: 通过突变表型推断
32197073 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

NOVA2 蛋白结构

KH_1

KH_1: KH domain (36 - 94)

KH_1

KH_1: KH domain (133 - 196)

KH_1

KH_1: KH domain (410 - 473)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 492 a.a.
蛋白主名 其他名称

RNA-binding protein Nova-2

astrocytic NOVA1-like RNA-binding protein

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities

NEDASB

Neurodevelopmental Disorder With/Without Autistic Features And/Or Structural Brain Abnormalities

Paraneoplastic Polyneuropathy
Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

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
Mus musculus NOVA2 MGD MGI:104296
Canis familiaris NOVA2 VGNC VGNC:53745
Bos taurus NOVA2 VGNC VGNC:32181
Felis catus NOVA2 VGNC VGNC:97531
Rattus norvegicus NOVA2 RGD RGD:1308032