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  2. DOCK6 - dedicator of cytokinesis 6 Gene

DOCK6 - dedicator of cytokinesis 6 Gene

中文名称:胞质分裂的奉献者 6

种属: Homo sapiens

同用名: AOS2; ZIR1

基因 ID: 57572 | 基因类型: protein coding

关于 DOCK6

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:11,199,295-11,262,524 (from NCBI)

This gene has 16 transcripts (splice variants), 201 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 16.5), lung (RPKM 12.6) and 24 other tissues.

功能概要

该基因编码非典型鸟嘌呤核苷酸交换因子胞质分裂 (DOCK) 家族的成员。鸟嘌呤核苷酸交换因子与小 GTP 酶相互作用,是细胞内信号网络的组成部分。编码的蛋白质是 C 组 DOCK 蛋白,通过激活 Rho GTPases Cdc42 和 Rac1 在肌动蛋白细胞骨架重组中发挥作用。该基因的突变与 Adams-Oliver 综合征 2 有关。[RefSeq 提供,2011 年 12 月]

This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]

DOCK6 基因产物(2)

mRNA Protein Name
NM_001367830.1 NP_001354759.1 dedicator of cytokinesis protein 6 isoform 2
NM_020812.4 NP_065863.2 dedicator of cytokinesis protein 6 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
32203420 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

DOCK6 蛋白结构

DUF3398

DUF3398: Domain of unknown function (DUF3398) (62 - 155)

DOCK-C2

DOCK-C2: C2 domain in Dock180 and Zizimin proteins (543 - 724)

DHR-2

DHR-2: Dock homology region 2 (1839 - 2016)

  • 0
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  • 2047 a.a.
蛋白主名 其他名称

dedicator of cytokinesis protein 6

DOCK6 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
Intra DOCK6 Q96HP0 LRCH4 Homo sapiens O75427
Anti Tag CoIP
32203420
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
Adams-Oliver Syndrome 2

AOS2

Adams-Oliver Syndrome, Type 2

Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

Hypercholesterolemia, Familial, 1

Hypercholesterolemia

FHCL1

Fhc

Fh

Hyperlipoproteinemia, Type Ii

Hyperlipoproteinemia, Type Iia

Hyper-Low-Density-Lipoproteinemia

Hypercholesterolemic Xanthomatosis, Familial

Ldl Receptor Disorder

Hypercholesterolemia, Susceptibility To

Hypercholesterolemia, Familial, Modifier Of

Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

Ldl Cholesterol Level Qtl2

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial, Type 1

High Cholesterol

Increased Cholesterol

Low-Density-Lipoid-Type Hyperlipoproteinemia

Pure Hypercholesterolaemia

Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

Group A Hyperlipidaemia

Pure Hypercholesterinaemia

Cholesterolaemia

Essential Cholesterolaemia

Essential Hypercholesterolaemia

Group A Hyperlipemia

Increased Low Density Lipoprotein

Low-Density-Lipoprotein-Type

Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Adams-Oliver Syndrome 1

AOS1

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Aos

Absence Defect Of Limbs, Scalp, And Skull

Absence Defect Of Limbs Scalp And Skull

Adams-Oliver Syndrome, Type 1

Adams Oliver Syndrome

Paget'S Disease Of Bone

Osteitis Deformans

Paget Disease Of Bone

Osseous Paget'S Disease

Paget Disease Of Bone, Familial

Bone Paget Disease

Familial Paget'S Disease Of Bone

Paget'S Bone Disease

Familial Paget Disease Of Bone

Paget Disease, Bone

Pdb

Pagets Bone Disease

Oliver Syndrome

Postaxial Polydactyly-Intellectual Disability Syndrome

Postaxial Polydactyly And Mental Retardation

Aplasia Cutis Congenita

Aplasia Cutis Congenita Of Limbs Recessive

Congenital Absence Of Skin On The Upper Or Lower Limbs

Recessive Aplasia Cutis Congenita Of The Limbs

Aplasia Cutis Congenita Nonsyndromic

Congenital Defect Of Skull And Scalp

Scalp Defect Congenital

Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve

Immunodeficiency 40

Dock2 Deficiency

IMD40

Immunodeficiency, Type 40

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

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 DOCK6 VGNC VGNC:40050
Rattus norvegicus DOCK6 RGD RGD:1306517
Macaca mulatta DOCK6 VGNC VGNC:71863
Felis catus DOCK6 VGNC VGNC:61575
Mus musculus DOCK6 MGD MGI:1914789
Bos taurus DOCK6 VGNC VGNC:28160