1. Gene
  2. ARHGEF40 - Rho guanine nucleotide exchange factor 40 Gene

ARHGEF40 - Rho guanine nucleotide exchange factor 40 Gene

中文名称:Rho 鸟嘌呤核苷酸交换因子 40

种属: Homo sapiens

同用名: SOLO

基因 ID: 55701 | 基因类型: protein coding

关于 ARHGEF40

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:21,061,264-21,090,248 (from NCBI)

This gene has 8 transcripts (splice variants), 107 orthologues and 22 paralogues. Ubiquitous expression in spleen (RPKM 21.4), adrenal (RPKM 17.9) and 25 other tissues.

功能概要

该基因编码的蛋白质类似于 Rho GTP 酶的鸟苷核苷酸交换因子。编码的蛋白质在其 C 末端包含一个参与交换活动的 GEF 域和一个 pleckstrin 同源域。已经描述了编码不同蛋白质的可变剪接转录物。[RefSeq 提供,2014 年 3 月]

This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]

ARHGEF40 基因产物(3)

mRNA Protein Name
NM_001278529.2 NP_001265458.1 rho guanine nucleotide exchange factor 40 isoform 2
NM_001278530.2 NP_001265459.1 rho guanine nucleotide exchange factor 40 isoform 3
NM_018071.5 NP_060541.3 rho guanine nucleotide exchange factor 40 isoform 1
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
25416956 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

ARHGEF40 蛋白结构

RhoGEF

RhoGEF: RhoGEF domain (1090 - 1243)

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  • 1519 a.a.
蛋白主名 其他名称

rho guanine nucleotide exchange factor 40

Rho guanine nucleotide exchange factor (GEF) 40

关联疾病

疾病名称 别名
Usher Syndrome, Type Id

Usher Syndrome Type 1d

USH1D

Usher Syndrome, Type 1d

Usher Syndrome Type Id

Usher Syndrome, Type Id/F, Digenic

Usher Syndrome, Type 1d/F Digenic

Usher Syndrome 1d

Usher'S Syndrome Type 1d

Usher Syndrome 1d/F

USH1DF

Ush1d/F

Usher'S Syndrome Type 1h

Usher Syndrome 1h

Usher Syndrome Type Ih

Usher Syndrome, Type 1d/F

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 ARHGEF40 VGNC VGNC:38089
Bos taurus ARHGEF40 VGNC VGNC:26118
Felis catus ARHGEF40 VGNC VGNC:59908
Mus musculus ARHGEF40 MGD MGI:2685515
Rattus norvegicus ARHGEF40 RGD RGD:1308093
Macaca mulatta ARHGEF40 VGNC VGNC:69907