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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DOCK8 Gene

protein-coding   GIFtS: 57
GCID: GC09P000263

Dedicator Of Cytokinesis 8

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Dedicator Of Cytokinesis 81 2
MRD22 5
1200017A24Rik2
ZIR82
Dedicator Of Cytokinesis Protein 82

External Ids:    HGNC: 191911   Entrez Gene: 817042   Ensembl: ENSG000001070997   OMIM: 6114325   UniProtKB: Q8NF503   

Export aliases for DOCK8 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 autosomal recessive hyper ige syndrome, and hyper ige syndrome, and among its related super-pathways are Platelet activation, signaling and aggregation. GO annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK9.

UniProtKB/Swiss-Prot: DOCK8_HUMAN, Q8NF50
Function: Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by
exchanging bound GDP for free GTP (By similarity)

Gene Wiki entry for DOCK8 (Dock8) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DOCK8 gene promoter:
         Nkx3-1   STAT1   Nkx3-1 v4   FOXO3   Nkx3-1 v1   FOXO3b   FOXL1   Nkx3-1 v2   Nkx3-1 v3   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DOCK8 promoter sequence
   Search SABiosciences Chromatin IP Primers for DOCK8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DOCK8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p24.3   Ensembl cytogenetic band:  9p24.3   HGNC cytogenetic band: 9p24.3

DOCK8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DOCK8 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P000263:  view genomic region     (about GC identifiers)

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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DOCK8_HUMAN, Q8NF50 (See protein sequence)
Recommended Name: Dedicator of cytokinesis protein 8  
Size: 2099 amino acids; 238529 Da
Sequence caution: Sequence=AAG42221.1; Type=Frameshift; Positions=2067, 2083; Sequence=BAB84907.1;
Type=Frameshift; Positions=1956; Sequence=CAI46160.1; Type=Erroneous initiation;
Secondary accessions: A2A350 A2BDF2 A4FU78 B7ZLP0 E9PH09 Q3MV16 Q5JPJ1 Q8TEP1 Q8WUY2 Q9BYJ5
Q9H1Q2 Q9H1Q3 Q9H308 Q9H7P2
Alternative splicing: 4 isoforms:  Q8NF50-1   Q8NF50-2   Q8NF50-3   Q8NF50-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DOCK8: NX_Q8NF50

Explore proteomics data for DOCK8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NF50

  • DOCK8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DOCK8 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001177387.1  NP_001180465.1  NP_982272.2  

    ENSEMBL proteins: 
     ENSP00000418587   ENSP00000436628   ENSP00000408464   ENSP00000417082   ENSP00000418318  
     ENSP00000417691   ENSP00000419438   ENSP00000371768   ENSP00000371766   ENSP00000394888  
    Reactome Protein details: Q8NF50
    Human Recombinant Protein Products for DOCK8: 
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    Novus Biologicals DOCK8 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DOCK8 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    DOCK8 for ontologies           About GeneDecksing



    DOCK8 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for DOCK8 
    Cloud-Clone Corp. CLIAs for DOCK8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR021816 DOCK_C/D_N
     IPR027007 DHR-1_domain
     IPR026791 DOCK
     IPR027357 DHR-2
     IPR010703 DOCK_C

    Graphical View of Domain Structure for InterPro Entry Q8NF50

    ProtoNet protein and cluster: Q8NF50

    1 Blocks protein domain: IPB010703 Dedicator of cytokinesis

    UniProtKB/Swiss-Prot: DOCK8_HUMAN, Q8NF50
    Domain: The DHR-2 domain may mediate some GEF activity (By similarity)
    Similarity: Belongs to the DOCK family
    Similarity: Contains 1 DHR-1 domain
    Similarity: Contains 1 DHR-2 domain


    DOCK8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DOCK8_HUMAN, Q8NF50
    Function: Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by
    exchanging bound GDP for free GTP (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI--
         
    DOCK8 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dock8):
     cellular  hematopoietic system  immune system 

    DOCK8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dock8tm1Ysfk for DOCK8

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DOCK8 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DOCK8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DOCK8 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DOCK8 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOCK8
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    hsa-miR-410 hsa-miR-3916 hsa-miR-3125 hsa-miR-214 hsa-miR-3119 hsa-miR-330-3p hsa-miR-32* hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidDOCK8 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOCK8


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DOCK8 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Platelet activation, signaling and aggregation
    Hemostasis0.43
    2Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2        Reactome Pathways for DOCK8
        Hemostasis
    Factors involved in megakaryocyte development and platelet production



    DOCK8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DOCK8

    5/559 Interacting proteins for DOCK8 (Q8NF501, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 559)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962, 3MINT-61604 I2D: score=2 
    YWHAEP622582, 3MINT-7947479 I2D: score=1 
    CDC42P609533I2D: score=2 
    RAC1P630003I2D: score=2 
    RHOJQ9H4E53I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0007596blood coagulation TAS--

    DOCK8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DOCK8

    3 HMDB Compounds for DOCK8    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about DOCK8

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DOCK8 gene (3 alternative transcripts): 
    NM_001190458.1  NM_001193536.1  NM_203447.3  

    Unigene Cluster for DOCK8:

    Dedicator of cytokinesis 8
    Hs.132599  [show with all ESTs]
    Unigene Representative Sequence: AL832270
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469197 ENST00000524396(uc011lls.1) ENST00000453981 ENST00000454469
    ENST00000479404 ENST00000487230 ENST00000382341(uc003zgg.3) ENST00000483757(uc022bct.1)
    ENST00000478380(uc010mgt.3) ENST00000469391 ENST00000495184(uc010mgu.3)
    ENST00000474772 ENST00000382331(uc010mgw.2) ENST00000382329(uc003zgk.2)
    ENST00000493666 ENST00000462618 ENST00000432829(uc003zgf.2 uc022bcu.1 uc010mgv.3)

    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate DOCK8 (see all 9):
    hsa-miR-410 hsa-miR-3916 hsa-miR-3125 hsa-miR-214 hsa-miR-3119 hsa-miR-330-3p hsa-miR-32* hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidDOCK8 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOCK8

    Additional mRNA sequence: 

    AB191037.1 AF194407.1 AK024436.1 AK074081.1 AK090429.1 AK293353.1 AK310555.1 AL583913.1 
    AL832270.1 AY117695.1 BC019102.2 BC030518.1 BC045629.1 BC112894.1 BC130518.1 BC143929.1 
    HM991479.1 HM991480.1 

    19 DOTS entries:

    DT.92046200  DT.100815495  DT.444744  DT.100815497  DT.40211008  DT.121162564  DT.121162545  DT.91896597 
    DT.92068106  DT.121162554  DT.95364658  DT.110514  DT.40110860  DT.75145507  DT.92040301  DT.95126001 
    DT.40264054  DT.448936  DT.95336573 

    24/178 AceView cDNA sequences (see all 178):

    BQ896624 BG057260 AA485041 BM718059 AA401548 C01637 NM_203447 AA732488 
    AA400074 AL832270 BM479571 AV702815 AA700965 AA485050 AA485040 BE326843 
    AA170814 AY117695 AA252489 BU149158 AA321435 AL583913 AK090429 AK024436 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for DOCK8 (see all 12)    About this scheme

    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:              -     -                                                                                                                                       

    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:                                                                                                                                                            

    ExUns: 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52a · 52b
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for DOCK8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DOCK8 expression in normal human tissues (normalized intensities)      DOCK8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGCACATA
    DOCK8 Expression
    About this image


    DOCK8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Blood (Extraembryonic Tissues)    fully expand to see all 5 entries
             Fetal Liver CD36+ Cells   
     
     Lymph (Hematopoietic System)    fully expand to see all 3 entries
             LYMPH NODE   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Fetal Liver CD36+ Cells   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Cord Blood Pan-T Cells   
     
     Ovary (Reproductive System)
             Mature Granulosa Cells Antral Follicle

    See DOCK8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DOCK8

    SOURCE GeneReport for Unigene cluster: Hs.132599
        SABiosciences Custom PCR Arrays for DOCK8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOCK8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DOCK8 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dock81 , 5 dedicator of cytokinesis 81, 5 87.18(n)1
    91.81(a)1
      19 (19.91 cM)5
    760881  NM_028785.31  NP_083061.21 
     249995295 
    chicken
    (Gallus gallus)
    Aves DOCK81 dedicator of cytokinesis 8 76.09(n)
    81.93(a)
      427348  XM_424926.3  XP_424926.3 
    lizard
    (Anolis carolinensis)
    Reptilia DOCK86
    dedicator of cytokinesis 8
    78(a)
    1 ↔ 1
    2(50038553-50145091)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.37972 Transcribed sequence with weak similarity to protein refNP_001371.1 (H.sapiens) dedicator of cyto-kinesis 1 [Homo sapiens] less 74.64(n)    BX730929.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.270902 Danio rerio cDNA clone IMAGE6795491, partial cds 77.19(n)    BC056560.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG113766
    --
    43(a)
    1 → many
    2L(94739-102086)
    worm
    (Caenorhabditis elegans)
    Secernentea F46H5.46
    Protein F46H5.4
    28(a)
    1 → many
    X(7245079-7254792)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DOCK8 gene
    DOCK92  DOCK72  DOCK112  DOCK62  DOCK102  
    18/52 SIMAP similar genes for DOCK8 using alignment to 12 protein entries:     DOCK8_HUMAN (see all proteins) (see all similar genes):
    SH3BP1    ARIH1    IDNK    RHBG    RPS13    SEC14L3
    MRPL45    EIF3G    LSM12    RRM2B    CEP95    SNRPF
    NDC80    PARK2    SLC16A3    TBCB    ZNF554    ASCC1

    DOCK8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7807 SNPs in DOCK8 are shown (see all 7807)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0637534
    Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive (AR-HIES)4--see VAR_0637532 K R mis40--------
    rs1123212801,2
    Cpathogenic1331283(+) TTTCAA/GGCAGG 6 K R mis10--------
    rs4887871,2
    C,F,A,H--208684(-) TCTGAA/GTTTCT 1 -- us2k121Minor allele frequency- G:0.28NA EA NS CSA WA 2591
    rs778621371,2
    C--208700(+) TCATCC/TGAAAG 1 -- us2k12Minor allele frequency- T:0.08CSA WA 120
    rs746232601,2
    F--208707(+) AAAGGC/GTGACA 1 -- us2k11Minor allele frequency- G:0.01NA 120
    rs795908231,2
    C,F--208775(+) AGTCTC/GAGTTT 1 -- us2k11Minor allele frequency- G:0.03EA 120
    rs1155599381,2
    C,F--208796(+) TTACAC/TATTTG 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs132949261,2
    C,F--208867(+) CAGTTT/ATGAAA 1 -- us2k13Minor allele frequency- A:0.10NA 124
    rs1925654661,2
    --208877(+) AGTCAA/GAAACT 1 -- us2k10--------
    rs796218701,2
    C,F--208878(+) GTCAGA/CAACTC 1 -- us2k12Minor allele frequency- C:0.08CSA WA 120

    HapMap Linkage Disequilibrium report for DOCK8 (214854 - 464854 bp, first 250kb of DOCK8)

    Structural Variations
         Database of Genomic Variants (DGV) 10/63 variations for DOCK8 (see all 63):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2667924CNV Deletion23128226
    esv1769808CNV Deletion17803354
    esv2040312CNV Deletion18987734
    nsv821297CNV Deletion20802225
    esv2671875CNV Deletion23128226
    esv2664261CNV Deletion23128226
    esv2457024CNV Deletion19546169
    esv2142595CNV Deletion18987734
    esv2660772CNV Deletion23128226
    esv2669878CNV Deletion23128226


    Human Gene Mutation Database (HGMD): DOCK8
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DOCK8
    DNA2.0 Custom Variant and Variant Library Synthesis for DOCK8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611432   
    OMIM disorders: 243700  
    UniProtKB/Swiss-Prot: DOCK8_HUMAN, Q8NF50
  • 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. 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 adaptative behavior and manifested
    during the developmental period. 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

  • 19 diseases for DOCK8:    About MalaCards
    autosomal recessive hyper ige syndrome    hyper ige syndrome    pulmonary aspergilloma    otitis externa
    lagophthalmos    coronary aneurysm    job's syndrome    primary immunodeficiency disease
    molluscum contagiosum    developmental disabilities    lymphopenia    ectodermal dysplasia
    eczema    eosinophilia    mental retardation    cerebritis
    squamous cell carcinoma    hepatocellular carcinoma    lung cancer

    4 diseases from the University of Copenhagen DISEASES database for DOCK8:
    Molluscum contagiosum     Primary immunodeficiency disease     Pulmonary aspergilloma     Lagophthalmos

    DOCK8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DOCK8
    Human Genome Epidemiology (HuGE) Navigator: DOCK8 (3 documents)

    Export disorders for DOCK8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DOCK8 gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with DOCK8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. (PubMed id 18060736)1, 2, 9 Griggs B.L....Srivastava A.K. (2008)
    2. Combined immunodeficiency associated with DOCK8 mutat ions. (PubMed id 19776401)1, 2, 9 Zhang Q....Su H.C. (2009)
    3. New gene functions in megakaryopoiesis and platelet fo rmation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Identification of an evolutionarily conserved superfamily of DOCK180- related proteins with guanine nucleotide exchange activity. (PubMed id 12432077)1, 2 Cote J.-F. and Vuori K. (2002)
    9. Characterization of long cDNA clones from human adult spleen. (PubMed id 11214971)1, 3 Hattori A.... Ohara O. (2000)
    10. The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex- related domain. (PubMed id 10729223)1, 2 Ottolenghi C.... McElreavey K. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 81704 HGNC: 19191 AceView: DOCK8 Ensembl:ENSG00000107099 euGenes: HUgn81704
    ECgene: DOCK8 H-InvDB: DOCK8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DOCK8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DOCK8 gene:
    Search GeneIP for patents involving DOCK8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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