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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 Response to elevated platelet cytosolic Ca2+ and Factors involved in megakaryocyte development and platelet production. Gene Ontology (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

  • Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:28028151, PubMed:22461490). During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane (PubMed:28028151). 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

Additional gene information for DOCK8 Gene

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

Genomics for DOCK8 Gene

GeneHancer (GH) Regulatory Elements for DOCK8 Gene

Promoters and enhancers for DOCK8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J000270 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 679.7 +58.2 58249 5.4 PKNOX1 ATF1 ARNT YY1 TCF12 POLR2B ZNF143 FOS ATF7 RUNX3 DOCK8 ENSG00000235880 C9orf66 CBWD1 WASHC1 FOXD4 GC09M000242
GH09J000213 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.8 848 3.7 ATF1 SIN3A ZNF48 GLIS2 ZNF143 ZFP91 ATF7 ZNF263 REST ATF4 C9orf66 DOCK8 WASHC1 CBWD1 ENSG00000235880
GH09J000210 Promoter/Enhancer 1.5 EPDnew FANTOM5 ENCODE dbSUPER 657.2 -3.2 -3192 1.4 RXRA CEBPB CEBPG REST ZNF592 SP1 JUND NFIC CTBP1 IKZF1 DOCK8 GC09M000202 CBWD1
GH09J000367 Promoter 0.5 EPDnew 650.1 +152.8 152818 0.1 DOCK8 LOC105375945 KANK1
GH09J000276 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 25.8 +64.7 64682 6.6 PKNOX1 NFIB MZF1 FEZF1 BATF CTBP1 ZNF776 ZNF213 ZNF366 ZNF350 WASHC1 DOCK8 CBWD1 RPL12P25 C9orf66 ENSG00000235880 GC09M000242
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DOCK8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DOCK8 gene promoter:
  • FOXL1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • FOXO3b
  • FOXO3a
  • FOXO3
  • STAT1

Genomic Locations for DOCK8 Gene

Genomic Locations for DOCK8 Gene
chr9:214,854-465,259
(GRCh38/hg38)
Size:
250,406 bases
Orientation:
Plus strand
chr9:214,854-465,259
(GRCh37/hg19)
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 (via DHR-2 domain) with GTPase CDC42; the interaction activates CDC42 by exchanging GDP for GTP (PubMed:22461490, PubMed:28028151). The unphosphorylated form interacts (via DHR-2 domain) with LRCH1 (via LRR repeats); the interaction prevents the association between DOCK8 and CDC42 (PubMed:28028151). Interacts with CCDC88B (PubMed:25762780).
    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

  • In response to chemokine CXCL12/SDF-1-alpha stimulation, phosphorylated by PRKCA/PKC-alpha which promotes DOCK8 dissociation from LRCH1.
  • Ubiquitination at Lys1929, Lys894, and Lys713
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DOCK8 Gene

Domains & Families for DOCK8 Gene

Gene 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 is necessary and sufficient for the GEF activity.
  • Belongs to the DOCK family.
Domain:
  • The DHR-2 domain is necessary and sufficient for the GEF activity.
Family:
  • Belongs to the DOCK family.
genes like me logo Genes that share domains with DOCK8: view

Function for DOCK8 Gene

Molecular function for DOCK8 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:28028151, PubMed:22461490). During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane (PubMed:28028151). 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).

Phenotypes From GWAS Catalog for DOCK8 Gene

Gene Ontology (GO) - Molecular Function for DOCK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA 28028151
GO:0005488 binding 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

Clone 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 UniProtKB/Swiss-Prot for DOCK8 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, lamellipodium membrane; Peripheral membrane protein; Cytoplasmic side. Note=Enriched and co-localizes with GTPase CDC42 at the immunological synapse formed during T cell/antigen presenting cell cognate interaction. Translocates from the cytoplasm to the plasma membrane in response to chemokine CXCL12/SDF-1-alpha stimulation. {ECO:0000269 PubMed:28028151}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DOCK8 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Cytosol (2)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DOCK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA,IDA 28028151
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with DOCK8: view

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 IDA 28028151
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

(16) 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 1231,1231
Busulfan Approved, Investigational Pharma 569
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3113
Lenograstim Approved, Investigational Pharma 1263
Guanosine diphosphate 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:

Clone 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 CGAP 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, 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

mRNA Expression by UniProt/SwissProt for DOCK8 Gene:

Q8NF50-DOCK8_HUMAN
Tissue specificity: Expressed in peripheral blood mononuclear cells (PBMCs).

Evidence on tissue expression from TISSUES for DOCK8 Gene

  • Spleen(4.5)
  • Lung(4.4)
  • Lymph node(4.4)
  • Nervous system(4.3)
  • Muscle(4.1)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DOCK8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • outer ear
  • pharynx
  • sinus
  • skull
  • tooth
Thorax:
  • bronchus
  • chest wall
  • heart
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
Pelvis:
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with DOCK8: view

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 33
  • 99.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DOCK8 34 33
  • 91.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DOCK8 34 33
  • 90.36 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK8 34
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOCK8 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dock8 33
  • 87.47 (n)
mouse
(Mus musculus)
Mammalia Dock8 16 34 33
  • 87.29 (n)
chicken
(Gallus gallus)
Aves DOCK8 34 33
  • 75.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DOCK8 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock8 33
  • 70.87 (n)
Str.3797 33
zebrafish
(Danio rerio)
Actinopterygii dock8 34 33
  • 66.99 (n)
OneToOne
Dr.27090 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7353 33
fruit fly
(Drosophila melanogaster)
Insecta CG11376 34
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F46H5.4 34
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToMany
Cin.2221 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2221 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for DOCK8: view image

Paralogs for DOCK8 Gene

Paralogs for DOCK8 Gene

(50) SIMAP similar genes for DOCK8 Gene using alignment to 12 proteins:

  • DOCK8_HUMAN
  • A2A369_HUMAN
  • A2A370_HUMAN
  • C9J613_HUMAN
  • C9J7A3_HUMAN
  • D3DRH1_HUMAN
  • E2J6M5_HUMAN
  • E2J6M6_HUMAN
  • E9PDJ4_HUMAN
  • E9PHZ4_HUMAN
  • F8WC95_HUMAN
  • Q86XD0_HUMAN
genes like me logo Genes that share paralogs with DOCK8: view

Variants for DOCK8 Gene

Sequence variations from dbSNP and Humsavar for DOCK8 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs10124592 benign, likely-benign, not specified, Hyper-IgE syndrome 449,770(+) C/T intron_variant
rs10157 uncertain-significance, Hyper-IgE syndrome 465,064(+) T/C 3_prime_UTR_variant
rs1029302976 uncertain-significance, Hyper-IgE syndrome 464,369(+) A/T 3_prime_UTR_variant
rs10491684 benign, likely-benign, not specified, Hyper-IgE syndrome 449,798(+) G/A coding_sequence_variant, synonymous_variant
rs1057515587 uncertain-significance, Hyper-IgE syndrome 465,209(+) T/C 3_prime_UTR_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)

Additional Variant Information for DOCK8 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DOCK8 Gene

MalaCards: The human disease database

(17) MalaCards diseases for DOCK8 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyper-ige recurrent infection syndrome, autosomal recessive
  • hyper-ige syndrome, autosomal recessive
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
hyper ige syndrome
  • job syndrome
hyper-ige recurrent infection syndrome, autosomal dominant
  • hyper-ige 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.

Additional Disease Information for DOCK8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 HC (The New England journal of medicine 2009) 3 4 22 58
  2. Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. (PMID: 18060736) Griggs BL … Srivastava AK (Genomics 2008) 3 4 22 58
  3. LRCH1 interferes with DOCK8-Cdc42-induced T cell migration and ameliorates experimental autoimmune encephalomyelitis. (PMID: 28028151) Xu X … Wang H (The Journal of experimental medicine 2017) 3 4 58
  4. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

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