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Aliases for DOCK8 Gene

Aliases for DOCK8 Gene

  • Dedicator Of Cytokinesis 8 2 3
  • MRD2 3 6
  • Dedicator Of Cytokinesis Protein 8 3
  • Epididymis Luminal Protein 205 3
  • 1200017A24Rik 3
  • HEL-205 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 combined immunodeficiency due to dock8 deficiency. Among its related pathways are Hemostasis and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK6.

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).

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

Genomic Location for DOCK8 Gene

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

Genomic View for DOCK8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    No Data Available
    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

Proteomics data for DOCK8 Gene at MOPED

Post-translational modifications for DOCK8 Gene

  • Ubiquitination at Lys713, Lys894, and Lys1929
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DOCK8 Gene

Domains for DOCK8 Gene

Protein Domains for DOCK8 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NF50

UniProtKB/Swiss-Prot:

DOCK8_HUMAN :
  • Q8NF50
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).

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:0005488 binding --
GO:0005515 protein binding IPI 22581261
genes like me logo Genes that share ontologies with DOCK8: view

Phenotypes for DOCK8 Gene

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

Animal Models for DOCK8 Gene

MGI Knock Outs for DOCK8:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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 4
plasma membrane 3
cytoskeleton 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DOCK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 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

Compounds for DOCK8 Gene

(3) HMDB Compounds for DOCK8 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
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:

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 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 (11.0) and Spleen (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DOCK8 Gene

SOURCE GeneReport for Unigene cluster for DOCK8 Gene Hs.132599

genes like me logo Genes that share expressions 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 35
  • 99.06 (n)
  • 99.11 (a)
DOCK8 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DOCK8 35
  • 91.38 (n)
  • 93.79 (a)
DOCK8 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DOCK8 35
  • 90.36 (n)
  • 93.99 (a)
DOCK8 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dock8 35
  • 87.29 (n)
  • 91.99 (a)
Dock8 16
Dock8 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOCK8 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK8 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dock8 35
  • 87.47 (n)
  • 92.13 (a)
chicken
(Gallus gallus)
Aves DOCK8 35
  • 75.99 (n)
  • 81.89 (a)
DOCK8 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DOCK8 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock8 35
  • 70.87 (n)
  • 74.76 (a)
Str.3797 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7353 35
zebrafish
(Danio rerio)
Actinopterygii dock8 35
  • 66.99 (n)
  • 68.02 (a)
dock8 36
  • 67 (a)
OneToOne
Dr.27090 35
fruit fly
(Drosophila melanogaster)
Insecta CG11376 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F46H5.4 36
  • 30 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2221 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for DOCK8:
  • 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

Paralogs for DOCK8 Gene

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 Sequence Context AA Info Type MAF
rs10157 -- 465,064(-) AAATG(A/G)AAACA utr-variant-3-prime
rs12067 -- 465,086(+) GCTGT(C/T)TGTCA utr-variant-3-prime
rs166800 -- 461,340(-) TAATA(A/G)AATCT intron-variant
rs175952 -- 451,813(-) TGGGA(A/G)AAAAT intron-variant
rs203864 -- 461,248(-) atcCT(C/T)TAATG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2266e1 CNV Complex 17122850
esv735 CNV CNV 17122850
dgv253e55 CNV Gain 17911159
dgv254e55 CNV Gain 17911159
nsv515505 CNV Gain+Loss 19592680
nsv8403 CNV Gain+Loss 18304495
nsv891942 CNV Gain 21882294
essv1889 CNV CNV 17122850
dgv2267e1 CNV Complex 17122850
nsv442127 CNV CNV 18776908
dgv7990n71 CNV Gain 21882294
dgv7991n71 CNV Gain 21882294
dgv7992n71 CNV Gain 21882294
nsv891954 CNV Loss 21882294
nsv466028 CNV Gain 19166990
nsv818668 CNV Gain 17921354
dgv908n27 CNV Gain 19166990
dgv909n27 CNV Gain 19166990
esv32541 CNV Gain 17666407
nsv891955 CNV Loss 21882294
dgv7993n71 CNV Gain 21882294
nsv438085 CNV Loss 16468122
dgv7994n71 CNV Gain 21882294
nsv482960 CNV Complex 15286789
nsv471267 CNV Gain 18288195
nsv466044 CNV Gain 19166990
esv2664261 CNV Deletion 23128226
nsv891964 CNV Gain 21882294
esv270329 CNV Insertion 20981092
nsv6451 CNV Insertion 18451855
nsv891965 CNV Gain 21882294
esv2671875 CNV Deletion 23128226
nsv891966 CNV Gain 21882294
nsv891967 CNV Gain 21882294
nsv511414 CNV Loss 21212237
esv1007940 CNV Insertion 20482838
esv2466101 CNV Deletion 19546169
esv2142595 CNV Deletion 18987734
nsv821297 CNV Deletion 20802225
nsv512081 CNV Loss 21212237
esv28569 CNV Gain+Loss 19812545
esv8141 CNV Loss 19470904
esv1769808 CNV Deletion 17803354
nsv891968 CNV Gain 21882294
nsv891969 CNV Loss 21882294
nsv891970 CNV Loss 21882294
nsv891971 CNV Gain 21882294
nsv437636 CNV Loss 16327808
esv33469 CNV Loss 17666407
nsv891972 CNV Gain 21882294
esv2457024 CNV Deletion 19546169
nsv891973 CNV Gain 21882294
esv2752307 CNV Gain 17911159
dgv7995n71 CNV Gain 21882294
nsv891975 CNV Gain 21882294
esv2667924 CNV Deletion 23128226
esv2669878 CNV Deletion 23128226
esv2040312 CNV Deletion 18987734
nsv416232 CNV Loss 16902084
nsv891976 CNV Gain 21882294
esv24538 CNV Gain 19812545
esv2660772 CNV Deletion 23128226
nsv518784 CNV Loss 19592680

Relevant External Links for DOCK8 Gene

HapMap Linkage Disequilibrium report
DOCK8
Human Gene Mutation Database (HGMD)
DOCK8

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

Disorders for DOCK8 Gene

(2) OMIM Diseases for DOCK8 Gene (611432)

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

Publications for DOCK8 Gene

  1. 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 23
  2. Combined immunodeficiency associated with DOCK8 mutations. (PMID: 19776401) Zhang Q. … Su H.C. (N. Engl. J. Med. 2009) 3 4 23
  3. Homozygous deletion and reduced expression of the DOCK8 gene in human lung cancer. (PMID: 16391785) Takahashi K. … Yokota J. (Int. J. Oncol. 2006) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex- related domain. (PMID: 10729223) Ottolenghi C. … McElreavey K. (Genomics 2000) 3 4

Products for DOCK8 Gene

Sources for DOCK8 Gene

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