1. Gene
  2. AAR2 - AAR2 splicing factor Gene

AAR2 - AAR2 splicing factor Gene

中文名称:AAR2 剪接因子

种属: Homo sapiens

同用名: CGI-23; C20orf4

基因 ID: 25980 | 基因类型: protein coding

关于 AAR2

Cytogenetic location: 20q11.23 Genomic coordinates (GRCh38): 20:36,236,478-36,256,933 (from NCBI)

This gene has 12 transcripts (splice variants) and 196 orthologues. Ubiquitous expression in testis (RPKM 10.2), thyroid (RPKM 9.5) and 25 other tissues.

功能概要

该基因编码参与 mRNA 剪接的酵母 A1-alpha2 抑制素蛋白的同系物。已发现该基因的交替剪接转录物变体。[RefSeq 提供,2012 年 12 月]

This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

AAR2 基因产物(2)

mRNA Protein Name
NM_001271874.2 NP_001258803.1 protein AAR2 homolog
NM_015511.5 NP_056326.2 protein AAR2 homolog
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 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

AAR2 蛋白结构

AAR2

AAR2: AAR2 protein (17 - 363)

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

protein AAR2 homolog

AAR2 splicing factor homolog

AAR2 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
AAR2 Q9Y312 EAPP Homo sapiens Q56P03
Y2H Pooling
16189514
种属内
AAR2 Q9Y312 EAPP Homo sapiens Q56P03
Anti Tag CoIP
33961781
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
Cerebellar Malformation
Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

Retinitis Pigmentosa 57

RP57

Pde6g-Related Retinitis Pigmentosa

Retinitis Pigmentosa, Type 57

Myositis Fibrosa

Interstitial Myositis

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Meningeal Melanomatosis

Leptomeningeal Melanomatosis

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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 AAR2 VGNC VGNC:69412
Mus musculus AAR2 MGD MGI:1915545
Bos taurus AAR2 VGNC VGNC:25446
Rattus norvegicus AAR2 RGD RGD:1311066
Felis catus AAR2 VGNC VGNC:79977
Canis familiaris AAR2 VGNC VGNC:37414