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

    Gene ID: 81704, updated on 3-Dec-2024

    Summary

    Official Symbol
    DOCK8provided by HGNC
    Official Full Name
    dedicator of cytokinesis 8provided by HGNC
    Primary source
    HGNC:HGNC:19191
    See related
    Ensembl:ENSG00000107099 MIM:611432; AllianceGenome:HGNC:19191
    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; HIES2; 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]
    Expression
    Broad expression in lymph node (RPKM 24.2), spleen (RPKM 23.1) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See DOCK8 in Genome Data Viewer
    Location:
    9p24.3
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (211257..465255)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (208892..464924)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (214865..465255)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139299-139912 Neighboring gene VISTA enhancer hs628 Neighboring gene Zn regulated GTPase metalloprotein activator 1A Neighboring gene uncharacterized LOC105375943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19723 Neighboring gene DOCK8 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28116 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:285795-286994 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:330982-331957 Neighboring gene uncharacterized LOC105375945 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:444434-444993 Neighboring gene uncharacterized LOC124902108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:469879-470404 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:477887-478386 Neighboring gene DOCK8 antisense RNA 2 Neighboring gene translation initiation factor IF-2-like 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Combined immunodeficiency due to DOCK8 deficiency
    MedGen: C4722305 OMIM: 243700 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ00026, FLJ00152, FLJ00346

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cell leading edge IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in lamellipodium membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in leading edge membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    dedicator of cytokinesis protein 8
    Names
    1200017A24Rik
    epididymis luminal protein 205

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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 RefSeqGene

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001177387.1

      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)
      AL158832, AL161725
      Consensus CDS
      CCDS55284.1
      UniProtKB/TrEMBL
      A0A2X0SFD1
      Related
      ENSP00000419438.1, ENST00000469391.5
      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:596
      DUF3398; Domain of unknown function (DUF3398)
    2. NM_001193536.2NP_001180465.1  dedicator of cytokinesis protein 8 isoform 3

      See identical proteins and their annotated locations for 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)
      AL158832, AL161725
      Consensus CDS
      CCDS55283.1
      UniProtKB/TrEMBL
      A0A2X0SFD1
      Related
      ENSP00000408464.2, ENST00000453981.5
      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:596
      DUF3398; Domain of unknown function (DUF3398)
    3. NM_203447.4NP_982272.2  dedicator of cytokinesis protein 8 isoform 1

      See identical proteins and their annotated locations for 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, AL161725, DR004867
      Consensus CDS
      CCDS6440.2
      UniProtKB/Swiss-Prot
      A2A350, A2BDF2, A4FU78, B7ZLP0, E9PH09, Q3MV16, Q5JPJ1, Q8NF50, Q8TEP1, Q8WUY2, Q9BYJ5, Q9H1Q2, Q9H1Q3, Q9H308, Q9H7P2
      UniProtKB/TrEMBL
      A0A2X0SFD1
      Related
      ENSP00000394888.3, ENST00000432829.7
      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:73164
      DUF3398; Domain of unknown function (DUF3398)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      211257..465255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015173.2XP_016870662.1  dedicator of cytokinesis protein 8 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SFD1
      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:596
      DUF3398; Domain of unknown function (DUF3398)
    2. XM_047423927.1XP_047279883.1  dedicator of cytokinesis protein 8 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SFD1
    3. XM_011518045.4XP_011516347.1  dedicator of cytokinesis protein 8 isoform X4

      See identical proteins and their annotated locations for XP_011516347.1

      UniProtKB/TrEMBL
      A0A2X0SFD1
      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:596
      DUF3398; Domain of unknown function (DUF3398)
    4. XM_047423930.1XP_047279886.1  dedicator of cytokinesis protein 8 isoform X3

      UniProtKB/TrEMBL
      A0A2X0SFD1
      Related
      ENSP00000371766.2, ENST00000382329.2
    5. XM_047423932.1XP_047279888.1  dedicator of cytokinesis protein 8 isoform X5

      UniProtKB/TrEMBL
      A0A2X0SFD1
    6. XM_047423929.1XP_047279885.1  dedicator of cytokinesis protein 8 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SFD1
    7. XM_047423928.1XP_047279884.1  dedicator of cytokinesis protein 8 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SFD1
    8. XM_047423931.1XP_047279887.1  dedicator of cytokinesis protein 8 isoform X5

      UniProtKB/TrEMBL
      A0A2X0SFD1
    9. XM_011518046.3XP_011516348.1  dedicator of cytokinesis protein 8 isoform X7

      UniProtKB/TrEMBL
      A0A2X0SFD1
      Conserved Domains (3) summary
      cd08696
      Location:513693
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:15902011
      DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
      pfam11878
      Location:10120
      DUF3398; Domain of unknown function (DUF3398)
    10. XM_047423934.1XP_047279890.1  dedicator of cytokinesis protein 8 isoform X6

      UniProtKB/TrEMBL
      A0A2X0SFD1
    11. XM_047423936.1XP_047279892.1  dedicator of cytokinesis protein 8 isoform X8

      UniProtKB/TrEMBL
      A0A2X0SFD1
    12. XM_047423935.1XP_047279891.1  dedicator of cytokinesis protein 8 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SFD1
    13. XM_047423937.1XP_047279893.1  dedicator of cytokinesis protein 8 isoform X3

      UniProtKB/TrEMBL
      A0A2X0SFD1
    14. XM_047423933.1XP_047279889.1  dedicator of cytokinesis protein 8 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SFD1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      208892..464924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)