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Aliases for DOCK8 Gene

Aliases for DOCK8 Gene

  • Dedicator Of Cytokinesis 8 2 3 5
  • Dedicator Of Cytokinesis Protein 8 3
  • Epididymis Luminal Protein 205 3
  • 1200017A24Rik 3
  • HEL-205 3
  • MRD2 3
  • ZIR8 3

External Ids for DOCK8 Gene

Previous GeneCards Identifiers for DOCK8 Gene

  • GC09P000263

Summaries for DOCK8 Gene

Entrez Gene Summary for DOCK8 Gene

  • 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]

GeneCards Summary for DOCK8 Gene

DOCK8 (Dedicator Of Cytokinesis 8) is a Protein Coding gene. Diseases associated with DOCK8 include Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive and Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Factors involved in megakaryocyte development and platelet production and Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK7.

UniProtKB/Swiss-Prot for DOCK8 Gene

  • Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP (By similarity). Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing (PubMed:25762780).

Gene Wiki entry for DOCK8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOCK8 Gene

Genomics for DOCK8 Gene

Regulatory Elements for DOCK8 Gene

Enhancers for DOCK8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F000270 0.9 FANTOM5 ENCODE 29.7 +58.2 58249 5.4 PKNOX1 ATF1 ARNT YY1 ELK1 CBX5 ZNF143 FOS JUNB TBX21 DOCK8 C9orf66 CBWD1 LOC105375946 WASHC1 FOXD4 GC09P000245
GH09F000276 1.1 FANTOM5 Ensembl ENCODE 25.8 +64.7 64682 6.6 CTCF PKNOX1 FEZF1 GATA2 ZNF366 PATZ1 ZNF600 PRDM10 ZNF263 MAZ DOCK8 RPL12P25 C9orf66 CBWD1 LOC105375946 WASHC1 GC09M000242
GH09F000295 1.5 FANTOM5 Ensembl ENCODE 20.9 +82.4 82399 2.7 CTCF EBF1 RAD21 FOSL1 POLR2A EED ETV6 PRDM10 FOS FOSL2 DOCK8 C9orf66 LOC105375946 CBWD1 KANK1 GC09M000242 GC09P000333
GH09F000370 0.4 ENCODE 19.9 +156.7 156733 2.7 HDAC1 PKNOX1 TAL1 FEZF1 ZIC2 FOSL1 FOXK2 POLR2A RNF2 OSR2 DOCK8 LOC105375944 LOC105375945 KANK1
GH09F000373 1.1 ENCODE 17.7 +159.7 159745 1.6 BCOR HDAC1 TAL1 ZMYM3 NFXL1 ZNF664 POLR2A GATA2 NCOR1 ADNP DOCK8 LOC105375944 LOC105375945 KANK1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DOCK8 on UCSC Golden Path with GeneCards custom track

Promoters for DOCK8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001468603 546 2801 ATF1 CREB3L1 SIN3A GLIS2 ZNF143 ZNF207 ZNF263 REST MYNN GLIS1

Genomic Location for DOCK8 Gene

Chromosome:
9
Start:
214,854 bp from pter
End:
465,259 bp from pter
Size:
250,406 bases
Orientation:
Plus strand

Genomic View for DOCK8 Gene

Genes around DOCK8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOCK8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOCK8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOCK8 Gene

Proteins for DOCK8 Gene

  • Protein details for DOCK8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NF50-DOCK8_HUMAN
    Recommended name:
    Dedicator of cytokinesis protein 8
    Protein Accession:
    Q8NF50
    Secondary Accessions:
    • A2A350
    • A2BDF2
    • A4FU78
    • B7ZLP0
    • E9PH09
    • Q3MV16
    • Q5JPJ1
    • Q8TEP1
    • Q8WUY2
    • Q9BYJ5
    • Q9H1Q2
    • Q9H1Q3
    • Q9H308
    • Q9H7P2

    Protein attributes for DOCK8 Gene

    Size:
    2099 amino acids
    Molecular mass:
    238529 Da
    Quaternary structure:
    • Interacts with CCDC88B.
    SequenceCaution:
    • Sequence=AAG42221.1; Type=Frameshift; Positions=2067, 2083; Evidence={ECO:0000305}; Sequence=BAB84907.1; Type=Frameshift; Positions=1956; Evidence={ECO:0000305}; Sequence=CAI46160.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DOCK8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DOCK8 Gene

Post-translational modifications for DOCK8 Gene

  • Ubiquitination at Lys 713, Lys 894, and Lys 1929
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DOCK8 Gene

Domains & Families for DOCK8 Gene

Protein Domains for DOCK8 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NF50

UniProtKB/Swiss-Prot:

DOCK8_HUMAN :
  • The DHR-2 domain may mediate some GEF activity.
  • Belongs to the DOCK family.
Domain:
  • The DHR-2 domain may mediate some GEF activity.
  • Contains 1 DHR-1 domain.
  • Contains 1 DHR-2 domain.
Family:
  • Belongs to the DOCK family.
genes like me logo Genes that share domains with DOCK8: view

No data available for Gene Families for DOCK8 Gene

Function for DOCK8 Gene

Molecular function for DOCK8 Gene

UniProtKB/Swiss-Prot Function:
Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP (By similarity). Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing (PubMed:25762780).

Gene Ontology (GO) - Molecular Function for DOCK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 22581261
genes like me logo Genes that share ontologies with DOCK8: view
genes like me logo Genes that share phenotypes with DOCK8: view

Human Phenotype Ontology for DOCK8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DOCK8 Gene

MGI Knock Outs for DOCK8:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for DOCK8 Gene

Localization for DOCK8 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DOCK8 Gene COMPARTMENTS Subcellular localization image for DOCK8 gene
Compartment Confidence
cytosol 5
plasma membrane 3
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DOCK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0031252 cell leading edge IEA --
genes like me logo Genes that share ontologies with DOCK8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DOCK8 Gene

Pathways & Interactions for DOCK8 Gene

genes like me logo Genes that share pathways with DOCK8: view

Pathways by source for DOCK8 Gene

Gene Ontology (GO) - Biological Process for DOCK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001771 immunological synapse formation IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007596 blood coagulation TAS --
GO:0036336 dendritic cell migration IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with DOCK8: view

No data available for SIGNOR curated interactions for DOCK8 Gene

Drugs & Compounds for DOCK8 Gene

(14) Drugs for DOCK8 Gene - From: ClinicalTrials and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fludarabine Approved Pharma DNA synthsis inhibitor 1113,1113
Busulfan Approved, Investigational Pharma 540
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2829
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DOCK8: view

Transcripts for DOCK8 Gene

Unigene Clusters for DOCK8 Gene

Dedicator of cytokinesis 8:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOCK8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c · 16d ^ 17a · 17b · 17c ^ 18 ^
SP1: - - - - - -
SP2: -
SP3:
SP4: -
SP5: - -
SP6: - -
SP7:
SP8: -
SP9: - -
SP10: -
SP11: - - -
SP12: - -

ExUns: 19 ^ 20a · 20b · 20c ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6: - - -
SP7:
SP8:
SP9: - - -
SP10:
SP11:
SP12:

ExUns: 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52a · 52b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for DOCK8 Gene

GeneLoc Exon Structure for
DOCK8
ECgene alternative splicing isoforms for
DOCK8

Expression for DOCK8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DOCK8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DOCK8 Gene

This gene is overexpressed in Whole Blood (x11.0) and Spleen (x5.7).

Protein differential expression in normal tissues from HIPED for DOCK8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.0) and Lymph node (17.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DOCK8 Gene



Protein tissue co-expression partners for DOCK8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DOCK8 Gene:

DOCK8

SOURCE GeneReport for Unigene cluster for DOCK8 Gene:

Hs.132599
genes like me logo Genes that share expression patterns with DOCK8: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for DOCK8 Gene

Orthologs for DOCK8 Gene

This gene was present in the common ancestor of animals.

Orthologs for DOCK8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOCK8 34 35
  • 99.06 (n)
cow
(Bos Taurus)
Mammalia DOCK8 34 35
  • 91.38 (n)
dog
(Canis familiaris)
Mammalia DOCK8 34 35
  • 90.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK8 35
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOCK8 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dock8 34
  • 87.47 (n)
mouse
(Mus musculus)
Mammalia Dock8 34 16 35
  • 87.29 (n)
chicken
(Gallus gallus)
Aves DOCK8 34 35
  • 75.99 (n)
lizard
(Anolis carolinensis)
Reptilia DOCK8 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock8 34
  • 70.87 (n)
Str.3797 34
zebrafish
(Danio rerio)
Actinopterygii dock8 34 35
  • 66.99 (n)
Dr.27090 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7353 34
fruit fly
(Drosophila melanogaster)
Insecta CG11376 35
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F46H5.4 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2221 34
Species where no ortholog for DOCK8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DOCK8 Gene

ENSEMBL:
Gene Tree for DOCK8 (if available)
TreeFam:
Gene Tree for DOCK8 (if available)

Paralogs for DOCK8 Gene

Variants for DOCK8 Gene

Sequence variations from dbSNP and Humsavar for DOCK8 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs112321280 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive (AR-HIES) [MIM:243700], Pathogenic 336,714(+) TTTCA(A/G)GCAGG reference, missense
rs113944762 Pathogenic 407,033(+) CTTCA(-/C)AGAAC reference, frameshift-variant
rs192864327 Pathogenic 271,626(+) TCCAA(G/T)GTATT upstream-variant-2KB, splice-acceptor-variant
rs869312169 Pathogenic 452,068(+) ACTCT(-/T)ATCGA reference, frameshift-variant
rs786205596 Likely pathogenic 368,196(+) ACTTC(A/C)CACAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DOCK8 Gene

Variant ID Type Subtype PubMed ID
dgv12447n54 CNV gain 21841781
dgv12448n54 CNV gain 21841781
dgv12449n54 CNV gain 21841781
dgv12450n54 CNV gain 21841781
dgv12451n54 CNV gain 21841781
dgv12452n54 CNV loss 21841781
dgv12453n54 CNV loss 21841781
dgv1430e214 CNV gain 21293372
dgv1431e214 CNV gain 21293372
dgv253e55 CNV gain 17911159
dgv254e55 CNV gain 17911159
dgv7343n100 CNV gain 25217958
dgv7344n100 CNV gain 25217958
dgv7345n100 CNV gain 25217958
dgv7346n100 CNV gain 25217958
dgv7347n100 CNV gain 25217958
dgv7348n100 CNV gain 25217958
dgv7349n100 CNV gain 25217958
dgv7350n100 CNV gain 25217958
dgv7351n100 CNV gain 25217958
dgv7352n100 CNV gain 25217958
dgv7353n100 CNV gain 25217958
dgv7354n100 CNV gain 25217958
dgv7355n100 CNV loss 25217958
dgv7356n100 CNV gain 25217958
dgv7357n100 CNV gain 25217958
dgv7358n100 CNV gain 25217958
dgv7359n100 CNV gain 25217958
dgv7360n100 CNV gain 25217958
dgv908n27 CNV gain 19166990
dgv909n27 CNV gain 19166990
esv1007940 CNV insertion 20482838
esv1769808 CNV deletion 17803354
esv2040312 CNV deletion 18987734
esv2142595 CNV deletion 18987734
esv24538 CNV gain 19812545
esv2457024 CNV deletion 19546169
esv2466101 CNV deletion 19546169
esv2660772 CNV deletion 23128226
esv2664261 CNV deletion 23128226
esv2667924 CNV deletion 23128226
esv2669878 CNV deletion 23128226
esv2671875 CNV deletion 23128226
esv2752307 CNV gain 17911159
esv2759654 CNV gain+loss 17122850
esv2761293 CNV loss 21179565
esv2762778 CNV loss 21179565
esv2764172 CNV gain+loss 21179565
esv28569 CNV gain+loss 19812545
esv32541 CNV gain 17666407
esv3306052 CNV mobile element insertion 20981092
esv33469 CNV loss 17666407
esv3389862 CNV insertion 20981092
esv3544415 CNV deletion 23714750
esv3573041 CNV loss 25503493
esv3573043 CNV loss 25503493
esv3576612 CNV gain 25503493
esv3576613 CNV gain 25503493
esv3576614 CNV gain 25503493
esv3576615 CNV gain 25503493
esv3619174 CNV loss 21293372
esv3619178 CNV loss 21293372
esv3619182 CNV loss 21293372
esv3619183 CNV gain 21293372
esv3619187 CNV gain 21293372
esv3619188 CNV gain 21293372
esv3619189 CNV loss 21293372
esv3891501 CNV gain 25118596
esv3891502 CNV gain 25118596
esv3891504 CNV gain+loss 25118596
esv3891505 CNV gain 25118596
esv3891507 CNV gain+loss 25118596
esv3891508 CNV gain 25118596
esv3891510 CNV loss 25118596
esv3891511 CNV gain 25118596
esv8141 CNV loss 19470904
nsv1016807 CNV gain 25217958
nsv1017050 CNV loss 25217958
nsv1017191 CNV gain 25217958
nsv1020561 CNV loss 25217958
nsv1023234 CNV loss 25217958
nsv1023905 CNV gain 25217958
nsv1027794 CNV loss 25217958
nsv1029671 CNV gain 25217958
nsv1031387 CNV loss 25217958
nsv1031393 CNV gain 25217958
nsv1032134 CNV loss 25217958
nsv1033909 CNV gain 25217958
nsv1110517 CNV duplication 24896259
nsv1110518 CNV duplication 24896259
nsv1119254 CNV duplication 24896259
nsv1146270 CNV deletion 26484159
nsv1147988 CNV deletion 26484159
nsv1161817 CNV duplication 26073780
nsv416232 CNV deletion 16902084
nsv437636 CNV loss 16327808
nsv438085 CNV loss 16468122
nsv442127 CNV gain 18776908
nsv466028 CNV gain 19166990
nsv466044 CNV gain 19166990
nsv471267 CNV gain 18288195
nsv473749 CNV novel sequence insertion 20440878
nsv480146 CNV novel sequence insertion 20440878
nsv511414 CNV loss 21212237
nsv512081 CNV loss 21212237
nsv515505 CNV gain+loss 19592680
nsv518784 CNV loss 19592680
nsv612983 CNV gain 21841781
nsv612986 CNV loss 21841781
nsv612987 CNV gain 21841781
nsv613007 CNV loss 21841781
nsv613009 CNV loss 21841781
nsv613010 CNV gain 21841781
nsv613011 CNV gain 21841781
nsv613014 CNV gain 21841781
nsv613015 CNV loss 21841781
nsv6451 CNV insertion 18451855
nsv818668 CNV gain 17921354
nsv821297 CNV deletion 20802225
nsv8403 CNV gain+loss 18304495
nsv950829 CNV duplication 24416366
nsv973853 CNV duplication 23825009
nsv973854 CNV deletion 23825009

Variation tolerance for DOCK8 Gene

Residual Variation Intolerance Score: 12.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.29; 98.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DOCK8 Gene

Human Gene Mutation Database (HGMD)
DOCK8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOCK8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOCK8 Gene

Disorders for DOCK8 Gene

MalaCards: The human disease database

(16) MalaCards diseases for DOCK8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyper-ige recurrent infection syndrome, autosomal recessive
  • autosomal recessive hyper ige syndrome
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
hyper ige syndrome
  • hyper-ige recurrent infection syndrome
hyper-ige recurrent infection syndrome
  • hyper-ige recurrent infection syndrome, autosomal dominant
lagophthalmos
- elite association - COSMIC cancer census association via MalaCards
Search DOCK8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DOCK8_HUMAN
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive (AR-HIES) [MIM:243700]: A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement. {ECO:0000269 PubMed:19776401}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, autosomal dominant 2 (MRD2) [MIM:614113]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:18060736}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration disrupting DOCK8 has been found in a patient with mental retardation and ectodermal dysplasia. A balanced translocation, t(X;9) (q13.1;p24). A genomic deletion of approximately 230 kb in subtelomeric 9p has been detected in a patient with mental retardation.

Relevant External Links for DOCK8

Genetic Association Database (GAD)
DOCK8
Human Genome Epidemiology (HuGE) Navigator
DOCK8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DOCK8
genes like me logo Genes that share disorders with DOCK8: view

No data available for Genatlas for DOCK8 Gene

Publications for DOCK8 Gene

  1. Combined immunodeficiency associated with DOCK8 mutations. (PMID: 19776401) Zhang Q. … Su H.C. (N. Engl. J. Med. 2009) 3 4 22 64
  2. Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. (PMID: 18060736) Griggs B.L. … Srivastava A.K. (Genomics 2008) 3 4 22 64
  3. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C. … Soranzo N. (Nature 2011) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Homozygous deletion and reduced expression of the DOCK8 gene in human lung cancer. (PMID: 16391785) Takahashi K. … Yokota J. (Int. J. Oncol. 2006) 3 22 64

Products for DOCK8 Gene

Sources for DOCK8 Gene

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