2. Gene
  3. DOCK7 - dedicator of cytokinesis 7 Gene

DOCK7 - dedicator of cytokinesis 7 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

DOCK7 Protein Structure

DUF3398

DUF3398: Domain of unknown function (DUF3398) (66 - 159)

DOCK-C2

DOCK-C2: C2 domain in Dock180 and Zizimin proteins (556 - 737)

DHR-2

DHR-2: Dock homology region 2 (1899 - 2076)

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  • 2109 a.a.
Protein Preferred Names Protein Names

dedicator of cytokinesis protein 7

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