1. Gene
  2. PLEKHG6 - pleckstrin homology and RhoGEF domain containing G6 Gene

PLEKHG6 - pleckstrin homology and RhoGEF domain containing G6 Gene

中文名称:含 pleckstrin 同源性和 RhoGEF 结构域 G6

种属: Homo sapiens

同用名: MyoGEF

基因 ID: 55200 | 基因类型: protein coding

关于 PLEKHG6

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,310,332-6,328,506 (from NCBI)

This gene has 10 transcripts (splice variants), 160 orthologues and 8 paralogues. Biased expression in small intestine (RPKM 12.7), colon (RPKM 11.9) and 11 other tissues.

功能概要

预测可启用胍基核苷酸交换因子活性。预测参与调节小 GTPase 介导的信号转导。位于细胞连接处和中心体。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in cell junction and centrosome. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHG6 基因产物(10)

mRNA Protein Name
NM_001144856.2 NP_001138328.1 pleckstrin homology domain-containing family G member 6 isoform a
NM_001144857.2 NP_001138329.2 pleckstrin homology domain-containing family G member 6 isoform b
NM_001384598.1 NP_001371527.1 pleckstrin homology domain-containing family G member 6 isoform a
NM_001384599.1 NP_001371528.1 pleckstrin homology domain-containing family G member 6 isoform d
NM_001384600.1 NP_001371529.1 pleckstrin homology domain-containing family G member 6 isoform e
NM_001384601.1 NP_001371530.1 pleckstrin homology domain-containing family G member 6 isoform f
NM_001384602.1 NP_001371531.1 pleckstrin homology domain-containing family G member 6 isoform g
NM_001384603.1 NP_001371532.1 pleckstrin homology domain-containing family G member 6 isoform h
NM_001384604.1 NP_001371533.1 pleckstrin homology domain-containing family G member 6 isoform c
NM_018173.4 NP_060643.2 pleckstrin homology domain-containing family G member 6 isoform a
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
19129481 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

PLEKHG6 蛋白结构

RhoGEF

RhoGEF: RhoGEF domain (166 - 351)

  • 0
  • 200
  • 400
  • 600
  • 790 a.a.
蛋白主名 其他名称

pleckstrin homology domain-containing family G member 6

PH domain-containing family G member 6

PLEKHG6 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
PLEKHG6 Q3KR16 CEP55 Homo sapiens Q53EZ4
Validated Y2H
32296183
种属内
PLEKHG6 Q3KR16 CEP55 Homo sapiens Q53EZ4
Y2H Prey Pooling
32296183
种属内
PLEKHG6 Q3KR16 CEP55 Homo sapiens Q53EZ4
Y2H Array
31515488
种属内
PLEKHG6 Q3KR16 CEP55 Homo sapiens Q53EZ4
Y2H Array
32296183
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
Joubert Syndrome 21

JBTS21

Joubert Syndrome, Type 21

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

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 PLEKHG6 MGD MGI:2682298
Canis familiaris PLEKHG6 VGNC VGNC:44681
Rattus norvegicus PLEKHG6 RGD RGD:2318544
Bos taurus PLEKHG6 VGNC VGNC:33019
Felis catus PLEKHG6 VGNC VGNC:64232
Macaca mulatta PLEKHG6 VGNC VGNC:76110