DOCK8 (dedicator of cytokinesis 8)

2010-01-01  

Identity

HGNC
DOCK8
LOCATION
9p24.3
LOCUSID
81704
ALIAS
HEL-205,MRD2,ZIR8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 81704
MIM: 611432
HGNC: 19191
Ensembl: ENSG00000107099

Variants:

dbSNP: 81704
ClinVar: 81704
TCGA: ENSG00000107099
COSMIC: DOCK8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107099ENST00000382329A2A369
ENSG00000107099ENST00000382331A2A370
ENSG00000107099ENST00000432829Q8NF50
ENSG00000107099ENST00000453981Q8NF50
ENSG00000107099ENST00000469197F8WC95
ENSG00000107099ENST00000469391Q8NF50
ENSG00000107099ENST00000479404C9J613
ENSG00000107099ENST00000483757E9PDJ4
ENSG00000107099ENST00000487230C9J7A3
ENSG00000107099ENST00000524396E9PHZ4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD31616045
PA445846ThrombocytopeniaDiseaseClinicalAnnotationassociatedPD31616045
PA448803carboplatinChemicalClinicalAnnotationassociatedPD31616045
PA449748gemcitabineChemicalClinicalAnnotationassociatedPD31616045

References

Pubmed IDYearTitleCitations
378152172024Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India.0
383518962024Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.0
378152172024Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India.0
383518962024Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.0
365087602023Insights into the pathogenesis of allergic disease from dedicator of cytokinesis 8 deficiency.1
366337852023Autoimmune myositis and autoimmune hemolytic anemia in two sisters with DOCK8-deficient hyper-IgE syndrome.0
371149402023Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India.0
376512332023Ectopic expression of DOCK8 regulates lysosome-mediated pancreatic tumor cell invasion.0
365087602023Insights into the pathogenesis of allergic disease from dedicator of cytokinesis 8 deficiency.1
366337852023Autoimmune myositis and autoimmune hemolytic anemia in two sisters with DOCK8-deficient hyper-IgE syndrome.0
371149402023Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India.0
376512332023Ectopic expression of DOCK8 regulates lysosome-mediated pancreatic tumor cell invasion.0
336347622022Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.0
352787132022Lack of DOCK8 impairs the primary biologic functions of human NK cells and abrogates CCR7 surface expression in a WASP-independent manner.1
358226852022Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations.0

Citation

Dessen P

DOCK8 (dedicator of cytokinesis 8)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51268/gene-fusions/gene-explorer/js/_common.js