DOCK7 - dedicator of cytokinesis 7 Gene

中文名称：胞质分裂的奉献者 7

种属: Homo sapiens

同用名: ZIR2; DEE23; EIEE23

基因 ID: 85440 | 基因类型: protein coding

关于 DOCK7

Cytogenetic location: 1p31.3 Genomic coordinates (GRCh38): 1:62,454,726-62,688,386 (from NCBI)

This gene has 37 transcripts (splice variants), 224 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 8.6), ovary (RPKM 6.0) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种鸟嘌呤核苷酸交换因子 (GEF) ，它在轴突形成和神经元极化中发挥作用。编码的蛋白质显示出对 RAC1 和 RAC3 Rho 小 GTP 酶的 GEF 活性，但对 CDC42 没有活性。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2012 年 12 月]

The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

DOCK7 基因产物(7)

mRNA	Protein	Name
NM_001271999.2	NP_001258928.1	dedicator of cytokinesis protein 7 isoform 1
NM_001272000.2	NP_001258929.1	dedicator of cytokinesis protein 7 isoform 3
NM_001272001.2	NP_001258930.1	dedicator of cytokinesis protein 7 isoform 4
NM_001272002.2	NP_001258931.1	dedicator of cytokinesis protein 7 isoform 5
NM_001330614.2	NP_001317543.1	dedicator of cytokinesis protein 7 isoform 6
NM_001367561.1	NP_001354490.1	dedicator of cytokinesis protein 7 isoform 7
NM_033407.4	NP_212132.2	dedicator of cytokinesis protein 7 isoform 2

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 protein binding	IPI IPI: 通过物理相互作用推断	24255178	GOA
enables small GTPase binding	IDA IDA: 通过直接分析推断	16982419	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in activation of GTPase activity	IDA IDA: 通过直接分析推断	16982419	GOA
involved in axonogenesis	IMP IMP: 通过突变表型推断	16982419	GOA
involved in establishment of neuroblast polarity	IMP IMP: 通过突变表型推断	16982419	GOA
involved in microtubule cytoskeleton organization	IMP IMP: 通过突变表型推断	16982419	GOA
involved in neuron projection development	IMP IMP: 通过突变表型推断	16982419	GOA
involved in positive regulation of peptidyl-serine phosphorylation	IMP IMP: 通过突变表型推断	16982419	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
part of COP9 signalosome	IDA IDA: 通过直接分析推断	18850735	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

DOCK7 蛋白结构

DUF3398

DOCK-C2

DHR-2

0
400
800
1200
1600
2000
2109 a.a.

蛋白主名

其他名称

dedicator of cytokinesis protein 7

DOCK7 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	DOCK7	Q96N67	LRCH1	Homo sapiens	Q9Y2L9	Anti Tag CoIP	35271311
Intra	DOCK7	Q96N67	LRCH1	Homo sapiens	Q9Y2L9	Anti Tag CoIP	24255178
Intra	DOCK7	Q96N67	NBEAL2	Homo sapiens	Q6ZNJ1	Anti Tag CoIP	29187380
Intra	DOCK7	Q96N67	NBEAL2	Homo sapiens	Q6ZNJ1	Anti Bait CoIP	29187380
Intra	DOCK7	Q96N67	SEC16A	Homo sapiens	O15027	Anti Bait CoIP	29187380
Intra	DOCK7	Q96N67	LRCH4	Homo sapiens	O75427	Anti Tag CoIP	32203420
Intra	DOCK7	Q96N67	LRCH3	Homo sapiens	Q96II8	Anti Tag CoIP	35271311
Intra	DOCK7	Q96N67	LRCH3	Homo sapiens	Q96II8	Anti Tag CoIP	29467281
Intra	DOCK7	Q96N67	LRCH3	Homo sapiens	Q96II8	BioID	29467281
Intra	DOCK7	Q96N67	LRCH3	Homo sapiens	Q96II8	Anti Tag CoIP	24255178

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

Developmental And Epileptic Encephalopathy 23

DEE23	Epileptic Encephalopathy, Early Infantile, 23
Eiee23	Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Epilepsy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Developmental And Epileptic Encephalopathy, 23
Early Infantile Epileptic Encephalopathy 23

Hypobetalipoproteinemia, Familial, 2

Familial Hypobetalipoproteinemia 2	FHBL2
Hypolipidemia, Familial, Combined	Combined Familial Hypolipidemia
Combined Hypobetalipoproteinemia Familial	Hypobetalipoproteinemia, Familial, Type 2

Cortical Blindness

Blindness, Cortical

Visual Cortex Disease

Visual Cortex Dysfunction	Visual Cortex Disorder
Visual Cortical Disorder	Disease Of Visual Cortex

Visual Pathway Disease

Disorder Of Visual Pathways

Night Blindness, Congenital Stationary, Autosomal Dominant 3

Congenital Stationary Night Blindness Autosomal Dominant 3	CSNBAD3
Night Blindness, Congenital Stationary, Nougaret Type	Nougaret Type Congenital Stationary Night Blindness
Congenital Stationary Night Blindness Nougaret Type	Hemeralopia Congenital Essential
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 3

Generalized Epilepsy With Febrile Seizures Plus, Type 7

Febrile Seizures, Familial, 3b	GEFSP7
GEFS+7	Generalized Epilepsy With Febrile Seizures Plus 7
Gefs+, Type 7	Generalised Epilepsy With Febrile Seizures Plus 7
Generalised Epilepsy With Febrile Seizures Plus Type 7	Generalized Epilepsy With Febrile Seizures Plus Type 7
FEB3B	Familial Febrile Convulsions 3
Gefs+ Type 7	Epilepsy, Generalized, With Febrile Seizures Plus, Type 7
Generalized Epilepsy With Febrile Seizures Plus, 7

Pitt-Hopkins-Like Syndrome 2

PTHSL2	Mesh
D006985	Mesh
D008607

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Developmental And Epileptic Encephalopathy 2

Epileptic Encephalopathy, Early Infantile, 2	DEE2
Eiee2	Issx2
Developmental And Epileptic Encephalopathy, 2	Infantile Spasm Syndrome, X-Linked 2
Early Infantile Epileptic Encephalopathy 2	X-Linked Infantile Spasm Syndrome 2
Atypical Rett Syndrome Cdkl5-Related	Atypical Rett Syndrome Hanefeld Variant
Infantile Spasm Syndrome X-Linked 2	Rett Syndrome Early-Onset Seizure Variant
Rett Syndrome Variant With Infantile Spasms	Encephalopathy, Epileptic, Early Infantile, 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

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03929	DOCK7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	DOCK7	VGNC	VGNC:71864
Bos taurus	DOCK7	VGNC	VGNC:28161
Felis catus	DOCK7	VGNC	VGNC:61576
Mus musculus	DOCK7	MGD	MGI:1914549
Rattus norvegicus	DOCK7	RGD	RGD:1309790
Canis familiaris	DOCK7	VGNC	VGNC:40051

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