Property Summary

NCBI Gene PubMed Count 51
Grant Count 33
R01 Count 3
Funding $6,848,455.05
PubMed Score 102.75
PubTator Score 85.31

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Disease log2 FC p
Rheumatoid Arthritis 1.200 0.036
urothelial carcinoma -1.700 0.042
osteosarcoma -3.589 0.000
glioblastoma 1.200 0.008
medulloblastoma, large-cell 1.100 0.002
juvenile dermatomyositis 1.554 0.000
non-small cell lung cancer -1.729 0.000
interstitial cystitis 1.200 0.009
adult high grade glioma 1.600 0.007
pilocytic astrocytoma 2.300 0.000
posterior fossa group A ependymoma 1.100 0.002
primary Sjogren syndrome 2.500 0.000
subependymal giant cell astrocytoma 2.720 0.016
invasive ductal carcinoma 1.417 0.004
lung carcinoma -3.200 0.000
spina bifida 1.075 0.042
Breast cancer -1.300 0.000
ulcerative colitis 2.800 0.000
ovarian cancer -1.700 0.000
pituitary cancer 1.400 0.006

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.
More...

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.
More...