Property Summary

NCBI Gene PubMed Count 51
PubMed Score 102.75
PubTator Score 85.31

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Intellectual disability 573 0.0 4.0

Expression

  Differential Expression (20)

Disease log2 FC p
Rheumatoid Arthritis 1.200 3.6e-02
urothelial carcinoma -1.700 4.2e-02
osteosarcoma -3.589 4.0e-05
glioblastoma 1.200 7.5e-03
medulloblastoma, large-cell 1.100 2.3e-03
juvenile dermatomyositis 1.554 2.2e-07
non-small cell lung cancer -1.729 3.4e-14
interstitial cystitis 1.200 9.3e-03
adult high grade glioma 1.600 7.2e-03
pilocytic astrocytoma 2.300 6.3e-09
posterior fossa group A ependymoma 1.100 2.1e-03
primary Sjogren syndrome 2.500 9.3e-06
subependymal giant cell astrocytoma 2.720 1.6e-02
invasive ductal carcinoma 1.417 4.1e-03
lung carcinoma -3.200 4.7e-37
spina bifida 1.075 4.2e-02
Breast cancer -1.300 2.7e-05
ulcerative colitis 2.800 2.5e-05
ovarian cancer -1.700 3.0e-04
pituitary cancer 1.400 6.2e-03

Gene RIF (36)

PMID Text
26659092 mutations in Chinese patients with hyper-IgE syndrome
26235511 Letter/Case Report: DOCK8 homozygous mutation leading to primary immune deficiency.
25724123 DOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels.
25428919 CD147 has a role in promoting Src-dependent activation of Rac1 signaling through STAT3/DOCK8 during the motility of hepatocellular carcinoma cells
25422492 DOCK8-regulated shape integrity of lymphocytes prevents cytothripsis and promotes antiviral immunity in the skin.
25332498 This is a case of systemic lupus erythematosus with hyper-immunoglobulin E syndrome documented as DOCK8 deficiency.
25220305 Mutations of DOCK8 in three children, two of whom developed sclerosing cholangitis, are reported.
25218284 Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells
24898675 Hyper-IgE syndromes and atopic dermatitis patients showed different sensitization pattern of serum IgE corresponding to the allergic disease manifestations and Th-cell subset data, suggesting a key role of DOCK8 in the development of food allergy
24698323 Biallelic mutations in the DOCK8 gene cause autosomal-recessive hyper-IgE syndrome.
23929855 DOCK8 is required for the development and survival of mature NKT cells.
23911989 Clinical features of immunodeficiency syndrome are associated with DOCK8 mutations. (Review)
23891736 DOCK8 deficiency results in defective antibody responses and undirected plasma cell expansion in the lymph nodes, as part of a combined immunodeficiency cured by hematopoietic stem cell transplantation.
23859592 Two novel large deletions, del1-14 exons and del8-18 exons, of DOCK8 have been identified in two siblings with the adaptive immune deficiencies.
23455509 Dedicator of cytokinesis 8 interacts with talin and Wiskott-Aldrich syndrome protein to regulate NK cell cytotoxicity.
23380217 DOCK8 deficiency results in severely impaired natural killer cell function because of an inability to form a mature lytic immunologic synapse through targeted synaptic F-actin accumulation
23374272 In title.
22968740 Three novel DOCK8 mutations and two large deletions are found in thirteen patients with autosomal recessive hyper-IgE syndrome in a single center experience.
22942019 We used this new approach to analyse exome data from 24 patients with primary immunodeficiencies. Our analysis identified two novel causative deletions in the genes GATA2 and DOCK8
22876580 DOCK8 encodes dedicator of cytokinesis 8.
22581261 DOCK8 mediates an MyD88 signaling pathway essential for TLR9-driven B-cell proliferation aand immunoglobulin production.
22534316 DOCK8 deficiency (a newly described combined primary immunodeficiency disease) accounted for 15% of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity.
22006977 These findings highlight a key role for DOCK8 in the survival and function of human and mouse CD8 T cells.
21969276 Findings help to explain why DOCK8-deficient patients are susceptible to recurrent infections and provide new insights into how T-cell memory is sustained.
21931011 Rates of malignancy and overall mortality in patients with DOCK8 deficiency were higher than in those with Job's syndrome
21763205 A 2-bp deletion at codon 510 in exon 14 causing a frameshift mutation was found in 3 homozygous siblings with Job syndrome and their heterozygous first-cousin parents.
21178272 Mutations in DOCK8 lead to DOCK8 immunodeficiency syndrome characterized by recurrent viral infections, severe atopy, and early onset malignancy. (Review)
21178271 DOCK8 deficiency and clinical manifestations of hyper IgE syndromes (Review)
21058221 Several AR-HIES patients have recently been shown to harbour mutations in the gene for dedicator of cytokinesis 8 (DOCK8). Here, we present the long-term outcome of a girl having received a hematopoietic stem cell graft.
20596660 Chromosome 9p loss is the hallmark of squamous cell carcinoma, and DMRT1, DMRT3 and DOCK8 genes at 9p24.3 might be of interest for the study of the pathophysiology of SCC as potential targets for therapeutic measures.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20004785 Autosomal-recessive mutations in DOCK8 are responsible for many, although not all, cases of autosomal-recessive hyper-IgE syndrome.
19776401 Autosomal recessive DOCK8 deficiency is associated with a novel variant of combined immunodeficiency.
19640199 Under-expression of DOCK8 is associated with hepatocellular carcinoma.
18060736 rare mutations in the DOCK8 gene may contribute to some cases of autosomal dominant mental retardation
15304341 involvement of DOCK8 in processes that affect the organisation of filamentous actin.

AA Sequence

MATLPSAERRAFALKINRYSSAEIRKQFTLPPNLGQYHRQSISTSGFPSLQLPQFYDPVEPVDFEGLLMT      1 - 70
HLNSLDVQLAQELGDFTDDDLDVVFTPKECRTLQPSLPEEGVELDPHVRDCVQTYIREWLIVNRKNQGSP     71 - 140
EICGFKKTGSRKDFHKTLPKQTFESETLECSEPAAQAGPRHLNVLCDVSGKGPVTACDFDLRSLQPDKRL    141 - 210
ENLLQQVSAEDFEKQNEEARRTNRQAELFALYPSVDEEDAVEIRPVPECPKEHLGNRILVKLLTLKFEIE    211 - 280
IEPLFASIALYDVKERKKISENFHCDLNSDQFKGFLRAHTPSVAASSQARSAVFSVTYPSSDIYLVVKIE    281 - 350
KVLQQGEIGDCAEPYTVIKESDGGKSKEKIEKLKLQAESFCQRLGKYRMPFAWAPISLSSFFNVSTLERE    351 - 420
VTDVDSVVGRSSVGERRTLAQSRRLSERALSLEENGVGSNFKTSTLSVSSFFKQEGDRLSDEDLFKFLAD    421 - 490
YKRSSSLQRRVKSIPGLLRLEISTAPEIINCCLTPEMLPVKPFPENRTRPHKEILEFPTREVYVPHTVYR    491 - 560
NLLYVYPQRLNFVNKLASARNITIKIQFMCGEDASNAMPVIFGKSSGPEFLQEVYTAVTYHNKSPDFYEE    561 - 630
VKIKLPAKLTVNHHLLFTFYHISCQQKQGASVETLLGYSWLPILLNERLQTGSYCLPVALEKLPPNYSMH    631 - 700
SAEKVPLQNPPIKWAEGHKGVFNIEVQAVSSVHTQDNHLEKFFTLCHSLESQVTFPIRVLDQKISEMALE    701 - 770
HELKLSIICLNSSRLEPLVLFLHLVLDKLFQLSVQPMVIAGQTANFSQFAFESVVAIANSLHNSKDLSKD    771 - 840
QHGRNCLLASYVHYVFRLPEVQRDVPKSGAPTALLDPRSYHTYGRTSAAAVSSKLLQARVMSSSNPDLAG    841 - 910
THSAADEEVKNIMSSKIADRNCSRMSYYCSGSSDAPSSPAAPRPASKKHFHEELALQMVVSTGMVRETVF    911 - 980
KYAWFFFELLVKSMAQHVHNMDKRDSFRRTRFSDRFMDDITTIVNVVTSEIAALLVKPQKENEQAEKMNI    981 - 1050
SLAFFLYDLLSLMDRGFVFNLIRHYCSQLSAKLSNLPTLISMRLEFLRILCSHEHYLNLNLFFMNADTAP   1051 - 1120
TSPCPSISSQNSSSCSSFQDQKIASMFDLTSEYRQQHFLTGLLFTELAAALDAEGEGISKVQRKAVSAIH   1121 - 1190
SLLSSHDLDPRCVKPEVKVKIAALYLPLVGIILDALPQLCDFTVADTRRYRTSGSDEEQEGAGAINQNVA   1191 - 1260
LAIAGNNFNLKTSGIVLSSLPYKQYNMLNADTTRNLMICFLWIMKNADQSLIRKWIADLPSTQLNRILDL   1261 - 1330
LFICVLCFEYKGKQSSDKVSTQVLQKSRDVKARLEEALLRGEGARGEMMRRRAPGNDRFPGLNENLRWKK   1331 - 1400
EQTHWRQANEKLDKTKAELDQEALISGNLATEAHLIILDMQENIIQASSALDCKDSLLGGVLRVLVNSLN   1401 - 1470
CDQSTTYLTHCFATLRALIAKFGDLLFEEEVEQCFDLCHQVLHHCSSSMDVTRSQACATLYLLMRFSFGA   1471 - 1540
TSNFARVKMQVTMSLASLVGRAPDFNEEHLRRSLRTILAYSEEDTAMQMTPFPTQVEELLCNLNSILYDT   1541 - 1610
VKMREFQEDPEMLMDLMYRIAKSYQASPDLRLTWLQNMAEKHTKKKCYTEAAMCLVHAAALVAEYLSMLE   1611 - 1680
DHSYLPVGSVSFQNISSNVLEESVVSEDTLSPDEDGVCAGQYFTESGLVGLLEQAAELFSTGGLYETVNE   1681 - 1750
VYKLVIPILEAHREFRKLTLTHSKLQRAFDSIVNKDHKRMFGTYFRVGFFGSKFGDLDEQEFVYKEPAIT   1751 - 1820
KLPEISHRLEAFYGQCFGAEFVEVIKDSTPVDKTKLDPNKAYIQITFVEPYFDEYEMKDRVTYFEKNFNL   1821 - 1890
RRFMYTTPFTLEGRPRGELHEQYRRNTVLTTMHAFPYIKTRISVIQKEEFVLTPIEVAIEDMKKKTLQLA   1891 - 1960
VAINQEPPDAKMLQMVLQGSVGATVNQGPLEVAQVFLAEIPADPKLYRHHNKLRLCFKEFIMRCGEAVEK   1961 - 2030
NKRLITADQREYQQELKKNYNKLKENLRPMIERKIPELYKPIFRVESQKRDSFHRSSFRKCETQLSQGS    2031 - 2099
//

Text Mined References (59)

PMID Year Title
26659092 2016 Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome.
26235511 2016 Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25724123 2015 The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
25428919 2015 CD147 promotes Src-dependent activation of Rac1 signaling through STAT3/DOCK8 during the motility of hepatocellular carcinoma cells.
25422492 2014 DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity.
25416956 2014 A proteome-scale map of the human interactome network.
25332498 2014 Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus.
25220305 2014 Dedicator of cytokinesis 8 deficiency: a predisposition to sclerosing cholangitis.
25218284 2014 Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells.
24898675 2014 Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern.
24698323 2014 Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency.
24169519 2014 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
23929855 2013 DOCK8 is critical for the survival and function of NKT cells.
23911989 2013 Immune regulatory functions of DOCK family proteins in health and disease.
23891736 2013 Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis.
23859592 2013 Novel dedicator of cytokinesis 8 mutations identified by multiplex ligation-dependent probe amplification.
23455509 2013 Dedicator of cytokinesis 8 interacts with talin and Wiskott-Aldrich syndrome protein to regulate NK cell cytotoxicity.
23380217 2013 Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.
23374272 2013 Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22968740 2013 Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.
22942019 2012 A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
22876580 2012 Pure distal 9p deletion in a female infant with cerebral palsy.
22581261 2012 DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.
22534316 2012 Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.
22139419 2011 New gene functions in megakaryopoiesis and platelet formation.
22006977 2011 DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice.
21969276 2011 DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memory.
21931011 2012 Cutaneous manifestations of DOCK8 deficiency syndrome.
21763205 2011 Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.
21269460 2011 Initial characterization of the human central proteome.
21178272 2010 Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome.
21178271 2010 Clinical manifestations of hyper IgE syndromes.
21058221 2010 Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation.
20596660 2010 Frequent silence of chromosome 9p, homozygous DOCK8, DMRT1 and DMRT3 deletion at 9p24.3 in squamous cell carcinoma of the lung.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20004785 2009 Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
19946888 2010 Defining the membrane proteome of NK cells.
19776401 2009 Combined immunodeficiency associated with DOCK8 mutations.
19640199 Novel PNLIPRP3 and DOCK8 gene expression and prognostic implications of DNA loss on chromosome 10q25.3 in hepatocellular carcinoma.
19369195 2009 Large-scale proteomics analysis of the human kinome.
18060736 2008 Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16391785 2006 Homozygous deletion and reduced expression of the DOCK8 gene in human lung cancer.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15304341 2004 Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology.
15164053 2004 DNA sequence and analysis of human chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12693554 2003 Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12432077 2002 Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.
11214971 2000 Characterization of long cDNA clones from human adult spleen.
10729223 2000 The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.