DOCK8 - dedicator of cytokinesis 8 Gene
Also Known as MRD2; ZIR8; HEL-205
Species: Homo sapiens
About DOCK8
This gene has 25 transcripts (splice variants), 238 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in lymph node (RPKM 24.2), spleen (RPKM 23.1) and 21 other tissues.
Summary
This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
DOCK8 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001190458.2 | NP_001177387.1 | dedicator of cytokinesis protein 8 isoform 2 |
| NM_001193536.2 | NP_001180465.1 | dedicator of cytokinesis protein 8 isoform 3 |
| NM_203447.4 | NP_982272.2 | dedicator of cytokinesis protein 8 isoform 1 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables guanyl-nucleotide exchange factor activity |
IDA
IDA: Inferred from direct assay
|
28028151 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
22581261 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in cellular response to chemokine |
IMP
IMP: Inferred from mutant phenotype
|
28028151 | GOA |
| acts upstream of or within memory T cell proliferation |
IMP
IMP: Inferred from mutant phenotype
|
22006977 | GOA |
| involved in positive regulation of GTPase activity |
IDA
IDA: Inferred from direct assay
|
28028151 | GOA |
| involved in positive regulation of T cell migration |
IMP
IMP: Inferred from mutant phenotype
|
28028151 | GOA |
| involved in positive regulation of establishment of T cell polarity |
IMP
IMP: Inferred from mutant phenotype
|
28028151 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
28028151 | GOA |
| located in leading edge membrane |
IDA
IDA: Inferred from direct assay
|
28028151 | GOA |
DOCK8 Protein Structure
DUF3398: Domain of unknown function (DUF3398) (1 - 96)
DOCK-C2: C2 domain in Dock180 and Zizimin proteins (487 - 671)
DHR-2: Dock homology region 2 (1814 - 1990)
- 0
- 400
- 800
- 1200
- 1600
- 2031 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dedicator of cytokinesis protein 8 |
|
DOCK8 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
DOCK8 | Q8NF50 | KRT40 | Homo sapiens | Q6A162 | 25416956 | |
|
Intra
|
DOCK8 | Q8NF50 | KRT40 | Homo sapiens | Q6A162 | 25416956 | |
|
Intra
|
DOCK8 | Q8NF50 | KRT40 | Homo sapiens | Q6A162 | 25416956 | |
|
Intra
|
DOCK8 | Q8NF50 | LRCH2 | Homo sapiens | Q5VUJ6 | 24255178 | |
|
Intra
|
DOCK8 | Q8NF50 | LRCH2 | Homo sapiens | Q5VUJ6 | 32203420 | |
|
Intra
|
DOCK8 | Q8NF50 | LRCH2 | Homo sapiens | Q5VUJ6 | 28514442 | |
|
Intra
|
DOCK8 | Q8NF50 | LRCH2 | Homo sapiens | Q5VUJ6 | 33961781 | |
|
Intra
|
DOCK8 | Q8NF50 | LRCH1 | Homo sapiens | Q9Y2L9 | 24255178 | |
|
Intra
|
DOCK8 | Q8NF50 | LRCH1 | Homo sapiens | Q9Y2L9 | 31515488 | |
|
Intra
|
DOCK8 | Q8NF50 | MYD88 | Homo sapiens | Q99836 | 22581261 | |
|
Intra
|
DOCK8 | Q8NF50 | MYD88 | Homo sapiens | Q99836 | 22581261 | |
|
Intra
|
DOCK8 | Q8NF50 | CARHSP1 | Homo sapiens | Q9Y2V2 | 25416956 | |
|
Intra
|
DOCK8 | Q8NF50 | CARHSP1 | Homo sapiens | Q9Y2V2 | 25416956 | |
|
Intra
|
DOCK8 | Q8NF50 | MEOX2 | Homo sapiens | P50222 | 25416956 |
DOCK8 Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P82968 | DOCK8 Antibody (YA2713) | WB | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
|
| Dock8 Immunodeficiency Syndrome |
|
|
| Severe Combined Immunodeficiency |
|
|
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
|
| Hyper Ige Syndrome |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
|
| Hyper Ige Recurrent Infection Syndrome 2 |
|
|
| Cd40 Ligand Deficiency |
|
|
| Hyper Ige Recurrent Infection Syndrome 1 |
|
|
| Immunodeficiency 40 |
|
|
| Combined Immunodeficiency |
|
|
| Immunodeficiency 35 |
|
|
| Leukocyte Adhesion Deficiency, Type I |
|
|
| B Cell Deficiency |
|
|
| External Ear Disease |
|
|
| Coronin-1a Deficiency |
|
|
| Wiskott-Aldrich Syndrome |
|
|
| Immunodeficiency 13 |
|
|
| Immunodeficiency 21 |
|
|
| Otitis Externa |
|
|
| Immunodeficiency 11 |
|
|
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
|
| Epidermodysplasia Verruciformis 1 |
|
|
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
|
| Whim Syndrome 1 |
|
|
| Blepharoconjunctivitis |
|
|
| Transient Hypogammaglobulinemia |
|
|
| Malignant Syringoma |
|
|
| Mastoiditis |
|
|
| Ectodermal Dysplasia |
|
|
| Bare Lymphocyte Syndrome, Type Ii |
|
|
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
|
| Immunodeficiency 14 |
|
|
| Chickenpox |
|
|
| Nail Disease |
|
|
| Lung Abscess |
|
|
| T Cell Deficiency |
|
|
| Chronic Mucocutaneous Candidiasis |
|
|
| Immunodeficiency 58 |
|
|
| Omenn Syndrome |
|
|
| Hereditary Spastic Paraplegia 51 |
|
|
| Immunodeficiency 30 |
|
|
| Chromosome 9p Deletion Syndrome |
|
|
| Eczema Herpeticum |
|
|
| Aneurysm, Intracranial Berry, 12 |
|
|
| Immunodeficiency With Hyper-Igm, Type 3 |
|
|
| Purine Nucleoside Phosphorylase Deficiency |
|
|
| Immunodeficiency With Hyper-Igm, Type 1 |
|
|
| Suppurative Lymphadenitis |
|
|
| Common Wart |
|
|
| Immunodeficiency 27b |
|
|
| Type 1 Diabetes Mellitus 8 |
|
|
| Phagocyte Bactericidal Dysfunction |
|
|
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
|
| Cerebral Palsy |
|
|
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
|
| Autoimmune Polyendocrine Syndrome |
|
|
| Opportunistic Mycosis |
|
|
| Granulomatous Disease, Chronic, X-Linked |
|
|
| Fungal Infectious Disease |
|
|
| Lymphoproliferative Syndrome 2 |
|
|
| Bare Lymphocyte Syndrome, Type I |
|
|
| Chronic Granulomatous Disease |
|
|
| Hemophagocytic Lymphohistiocytosis |
|
|
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
|
| Autoimmune Lymphoproliferative Syndrome |
|
|
| Autism |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | DOCK8 | RGD | RGD:1561588 |
| Mus musculus | DOCK8 | MGD | MGI:1921396 |
| Canis familiaris | DOCK8 | VGNC | VGNC:40052 |
| Bos taurus | DOCK8 | VGNC | VGNC:28162 |
| Macaca mulatta | DOCK8 | VGNC | VGNC:71865 |
| Felis catus | DOCK8 | VGNC | VGNC:61577 |
| Others | DOCK8 | NCBI |