DOCK7 - dedicator of cytokinesis 7 Gene

Homo sapiens

Also known as ZIR2; DEE23; EIEE23

Gene ID: 85440 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24255178	GOA
enables small GTPase binding	IDA IDA: Inferred from direct assay	16982419	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in activation of GTPase activity	IDA IDA: Inferred from direct assay	16982419	GOA
involved in axonogenesis	IMP IMP: Inferred from mutant phenotype	16982419	GOA
involved in establishment of neuroblast polarity	IMP IMP: Inferred from mutant phenotype	16982419	GOA
involved in microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	16982419	GOA
involved in neuron projection development	IMP IMP: Inferred from mutant phenotype	16982419	GOA
involved in positive regulation of peptidyl-serine phosphorylation	IMP IMP: Inferred from mutant phenotype	16982419	GOA
involved in positive regulation of vascular associated smooth muscle cell migration	IMP IMP: Inferred from mutant phenotype	22158624	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of COP9 signalosome	IDA IDA: Inferred from direct assay	18850735	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DOCK7 Protein Structure

DUF3398

DOCK-C2

DHR-2

0
400
800
1200
1600
2000
2109 a.a.

Protein Preferred Names

Protein Names

dedicator of cytokinesis protein 7

DOCK7 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03929	DOCK7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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