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DOCK8 dedicator of cytokinesis 8 [ Homo sapiens (human) ]

Gene ID: 81704, updated on 13-Sep-2014
Official Symbol
DOCK8provided by HGNC
Official Full Name
dedicator of cytokinesis 8provided by HGNC
Primary source
HGNC:HGNC:19191
Locus tag
RP11-165F24.7
See related
Ensembl:ENSG00000107099; HPRD:10920; MIM:611432; Vega:OTTHUMG00000078789
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRD2; ZIR8; HEL-205
Summary
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]
See DOCK8 in Epigenomics, MapViewer
Location:
9p24.3
Exon count:
49
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (214865..465259)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (214865..465259)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene forkhead box D4 Neighboring gene COBW domain containing 1 Neighboring gene chromosome 9 open reading frame 66 Neighboring gene ribosomal protein L12 pseudogene 25 Neighboring gene family with sequence similarity 217, member A pseudogene 1 Neighboring gene KN motif and ankyrin repeat domains 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
MedGen: C1968689 OMIM: 243700 GeneReviews: Not available
Compare labs
Mental retardation, autosomal dominant 2
MedGen: C3279842 OMIM: 614113 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ00026, FLJ00152, FLJ00346

Gene Ontology Provided by GOA

Function Evidence Code Pubs
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
dendritic cell migration IEA
Inferred from Electronic Annotation
more info
 
immunological synapse formation IEA
Inferred from Electronic Annotation
more info
 
memory T cell proliferation IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of T cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell leading edge IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
dedicator of cytokinesis protein 8
Names
dedicator of cytokinesis protein 8
1200017A24Rik
epididymis luminal protein 205

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017007.1 

    Range
    5001..255395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_196

mRNA and Protein(s)

  1. NM_001190458.1NP_001177387.1  dedicator of cytokinesis protein 8 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This variant also lacks an in-frame exon in the middle portion of the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB191037, AK090429, AL583913, AY117695, BC143929, BM680510, BU532484, DB147029
    Consensus CDS
    CCDS55284.1
    UniProtKB/Swiss-Prot
    Q8NF50
    Related
    ENSP00000419438, OTTHUMP00000214870, ENST00000469391, OTTHUMT00000354646
    Conserved Domains (3) summary
    cd08696
    Location:491671
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11701
    Location:15361957
    DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
    pfam11878
    Location:196
    DUF3398; Domain of unknown function (DUF3398)
  2. NM_001193536.1NP_001180465.1  dedicator of cytokinesis protein 8 isoform 3

    See proteins identical to NP_001180465.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AK090429, AY117695, BC143929, CA503173, HM991479, HM991480
    Consensus CDS
    CCDS55283.1
    UniProtKB/TrEMBL
    E2J6M5
    UniProtKB/TrEMBL
    E2J6M6
    UniProtKB/Swiss-Prot
    Q8NF50
    Related
    ENSP00000408464, OTTHUMP00000096442, ENST00000453981, OTTHUMT00000171792
    Conserved Domains (3) summary
    cd08696
    Location:491671
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11701
    Location:15681989
    DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
    pfam11878
    Location:196
    DUF3398; Domain of unknown function (DUF3398)
  3. NM_203447.3NP_982272.2  dedicator of cytokinesis protein 8 isoform 1

    See proteins identical to NP_982272.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB191037, AK090429, CA503173, DR004867
    Consensus CDS
    CCDS6440.2
    UniProtKB/Swiss-Prot
    Q8NF50
    Related
    ENSP00000394888, ENST00000432829
    Conserved Domains (3) summary
    cd08696
    Location:559739
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11701
    Location:16362057
    DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
    pfam11878
    Location:69164
    DUF3398; Domain of unknown function (DUF3398)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    214865..465259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    168609..417080
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

    Range
    215319..464907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)