2. Gene
  3. ARHGEF28 - Rho guanine nucleotide exchange factor 28 Gene

ARHGEF28 - Rho guanine nucleotide exchange factor 28 Gene

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

中文名称：Rho 鸟嘌呤核苷酸交换因子 28

种属: Homo sapiens

同用名: RIP2; RGNEF; p190RHOGEF

基因 ID: 64283 | 基因类型: protein coding

关于 ARHGEF28

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:73,626,196-73,941,990 (from NCBI)

This gene has 14 transcripts (splice variants), 277 orthologues and 8 paralogues. Broad expression in kidney (RPKM 8.5), thyroid (RPKM 7.2) and 21 other tissues.

功能概要

该基因编码 Rho 鸟嘌呤核苷酸交换因子家族的成员。编码的蛋白质与低分子量神经丝 mRNA 相互作用，可能参与肌萎缩侧索硬化神经丝聚集体的形成。交替剪接导致多个转录变体。[RefSeq 提供，2010 年 4 月]

This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

ARHGEF28 基因产物(5)

mRNA Protein Name
NM_001080479.3 NP_001073948.2 rho guanine nucleotide exchange factor 28 isoform 1
NM_001177693.2 NP_001171164.1 rho guanine nucleotide exchange factor 28 isoform 2
NM_001244364.2 NP_001231293.1 rho guanine nucleotide exchange factor 28 isoform 3
NM_001388076.1 NP_001375005.1 rho guanine nucleotide exchange factor 28 isoform 4
NM_001388078.1 NP_001375007.1 rho guanine nucleotide exchange factor 28 isoform 5
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 guanyl-nucleotide exchange factor activity EXP
EXP: 通过实验结果推断
11058585 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

ARHGEF28 蛋白结构

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (653 - 699)

RhoGEF

RhoGEF: RhoGEF domain (853 - 1041)

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  • 1705 a.a.
蛋白主名 其他名称

rho guanine nucleotide exchange factor 28

190 kDa guanine nucleotide exchange factor

关联疾病

疾病名称 别名
Cri-Du-Chat Syndrome

5p Deletion Syndrome

5p Partial Monosomy Syndrome

Monosomy 5p

Cat Cry Syndrome

Chromosome 5p Deletion Syndrome

Cri Du Chat Syndrome

5p- Syndrome

5p Minus Syndrome

Chromosome 5p- Syndrome

Chromosome 5 Short Arm Deletion Syndrome

Chromosome 5p Deletion

Deletion 5p

Cri Du Chat

5p Partial Deletion Syndrome

Partial Deletion Of Short Arm Of Chromosome 5 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

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-RS00957 ARHGEF28 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ARHGEF28 VGNC VGNC:38083
Felis catus ARHGEF28 VGNC VGNC:59905
Mus musculus ARHGEF28 MGD MGI:1346016
Bos taurus ARHGEF28 VGNC VGNC:26114
Macaca mulatta ARHGEF28 VGNC VGNC:84279
Rattus norvegicus ARHGEF28 RGD RGD:1307061
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