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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. 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

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

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
GH09H000270 1.6 FANTOM5 ENCODE dbSUPER 29.7 +58.2 58249 5.4 PKNOX1 ATF1 ARNT YY1 TCF12 ELK1 ZNF143 FOS ATF7 RUNX3 DOCK8 C9orf66 CBWD1 ENSG00000235880 WASHC1 FOXD4 GC09M000242
GH09H000276 1.7 FANTOM5 Ensembl ENCODE dbSUPER 25.8 +64.7 64682 6.6 PKNOX1 NFIB FEZF1 BATF GATA2 ZNF366 ZNF350 OVOL3 ZNF398 ZEB2 WASHC1 DOCK8 CBWD1 RPL12P25 C9orf66 ENSG00000235880 GC09M000242
GH09H000295 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21 +82.4 82399 2.7 CTCF EBF1 BATF FOSL1 POLR2A EED FOSL2 FOS PRDM10 ETV6 DOCK8 C9orf66 ENSG00000235880 CBWD1 KANK1 GC09M000242 GC09P000333
GH09H000268 1.4 FANTOM5 Ensembl ENCODE dbSUPER 15.3 +54.2 54245 1.4 ZNF740 MAFG ZNF140 ZNF589 ZNF316 ID3 NFE2 EMSY CBWD1 DOCK8 WASHC1 RPL12P25 C9orf66 KANK1 ENSG00000235880 GC09P000245
GH09H000373 0.8 ENCODE 17.7 +159.7 159745 1.6 BCOR HDAC1 TAL1 ZMYM3 NFXL1 ZNF664 TCF12 CTBP1 POLR2A GATA2 DOCK8 ENSG00000227155 LOC105375945 KANK1
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000232352 446 1801 ATF1 SIN3A GLIS2 ZNF143 ATF7 REST GLIS1 MXD3 BRD4 CTCF

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)

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 isoforms=2, 3, 4713, posLast=894894, and posLast=19291929
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DOCK8 Gene

Domains & Families for DOCK8 Gene

Gene Families for DOCK8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.
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:
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).

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 IEA,IDA 28028151
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

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
cytosol 5
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (1)
  • Cytosol (1)
  • Mitochondria (1)
  • Nucleoplasm (1)
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 IDA 28028151
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 IDA,IEA 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

(13) 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 1194,1194
Busulfan Approved, Investigational Pharma 556
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3034
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0

(1) Additional Compounds for DOCK8 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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, 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

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
Organs:
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

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 33 34
  • 99.06 (n)
cow
(Bos Taurus)
Mammalia DOCK8 33 34
  • 91.38 (n)
dog
(Canis familiaris)
Mammalia DOCK8 33 34
  • 90.36 (n)
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 33 16 34
  • 87.29 (n)
chicken
(Gallus gallus)
Aves DOCK8 33 34
  • 75.99 (n)
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 33 34
  • 66.99 (n)
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
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)

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 Pathogenic, Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive (AR-HIES) [MIM:243700] 336,714(+) TTTCA(A/G)GCAGG reference, missense
rs113432057 Pathogenic 328,076(+) TTCTG(C/T)GAGCT reference, stop-gained
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

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

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

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: HGMD, 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
  • hies
hyper-ige recurrent infection syndrome
  • job's syndrome
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 HC (The New England journal of medicine 2009) 3 4 22 60
  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 60
  3. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 45 60
  4. 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 45 60
  5. Homozygous deletion and reduced expression of the DOCK8 gene in human lung cancer. (PMID: 16391785) Takahashi K … Yokota J (International journal of oncology 2006) 3 22 60

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