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  2. DOCK4 - dedicator of cytokinesis 4 Gene

DOCK4 - dedicator of cytokinesis 4 Gene

中文名称:胞质分裂的奉献者 4

种属: Homo sapiens

基因 ID: 9732 | 基因类型: protein coding

关于 DOCK4

Cytogenetic location: 7q31.1 Genomic coordinates (GRCh38): 7:111,726,110-112,206,399 (from NCBI)

This gene has 18 transcripts (splice variants), 228 orthologues and 10 paralogues. Broad expression in lung (RPKM 9.6), brain (RPKM 9.0) and 23 other tissues.

功能概要

该基因是胞质分裂 (DOCK) 家族的成员,编码具有 DHR-1 (CZH-1) 结构域、DHR-2 (CZH-2) 结构域和 SH3 结构域的蛋白质。这种膜相关的细胞质蛋白起鸟嘌呤核苷酸交换因子的作用,并参与细胞间粘附连接的调节。该基因的突变与卵巢癌、前列腺癌、神经胶质瘤和结直肠癌有关。已经描述了编码不同蛋白质同种型的选择性剪接变体,但只有一种已被完全表征。[RefSeq 提供,2008 年 7 月]

This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008]

DOCK4 基因产物(2)

mRNA Protein Name
NM_001363540.2 NP_001350469.1 dedicator of cytokinesis protein 4 isoform 2
NM_014705.4 NP_055520.3 dedicator of cytokinesis protein 4 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables PDZ domain binding IPI
IPI: 通过物理相互作用推断
16464467 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
16464467 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16464467 GOA
enables receptor tyrosine kinase binding IPI
IPI: 通过物理相互作用推断
20679435 GOA
enables small GTPase binding IDA
IDA: 通过直接分析推断
16464467 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell chemotaxis IMP
IMP: 通过突变表型推断
20679435 GOA
involved in negative regulation of vascular associated smooth muscle contraction IMP
IMP: 通过突变表型推断
22158624 GOA
involved in positive regulation of vascular associated smooth muscle cell migration IMP
IMP: 通过突变表型推断
22158624 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
20679435 GOA
located in membrane IDA
IDA: 通过直接分析推断
20679435 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

DOCK4 蛋白结构

SH3_2

SH3_2: Variant SH3 domain (10 - 62)

DOCK-C2

DOCK-C2: C2 domain in Dock180 and Zizimin proteins (396 - 583)

DHR-2

DHR-2: Dock homology region 2 (1406 - 1587)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1966 a.a.
蛋白主名 其他名称

dedicator of cytokinesis protein 4

DOCK4 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
DOCK4 Q8N1I0 GRB2 Homo sapiens P62993
Y2H
21988832
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
Placenta Accreta
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Deafness, Autosomal Recessive 14

DFNB14

Autosomal Recessive Nonsyndromic Deafness 14

Autosomal Recessive Deafness 14

Dyslexia
Reading Disorder

Specific Reading Disorder

Reading

Dyslexia

Developmental Reading Disorder

Deafness, Autosomal Recessive 17

DFNB17

Autosomal Recessive Nonsyndromic Deafness 17

Autosomal Recessive Deafness 17

Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

Specific Language Impairment

Language Impairment, Specific

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 DOCK4 VGNC VGNC:71866
Canis familiaris DOCK4 VGNC VGNC:40048
Rattus norvegicus DOCK4 RGD RGD:1561724
Mus musculus DOCK4 MGD MGI:1918006
Bos taurus DOCK4 VGNC VGNC:28158
Felis catus DOCK4 VGNC VGNC:61573