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DOCK6 dedicator of cytokinesis 6 [ Homo sapiens (human) ]

Gene ID: 57572, updated on 5-Jul-2020

Summary

Official Symbol
DOCK6provided by HGNC
Official Full Name
dedicator of cytokinesis 6provided by HGNC
Primary source
HGNC:HGNC:19189
See related
Ensembl:ENSG00000130158 MIM:614194
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
AOS2; ZIR1
Summary
This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]
Expression
Ubiquitous expression in fat (RPKM 16.5), lung (RPKM 12.6) and 24 other tissues See more
Orthologs

Genomic context

See DOCK6 in Genome Data Viewer
Location:
19p13.2
Exon count:
51
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (11199295..11262524, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11309969..11373168, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SPC24 component of NDC80 kinetochore complex Neighboring gene KN motif and ankyrin repeat domains 2 Neighboring gene uncharacterized LOC105372273 Neighboring gene angiopoietin like 8 Neighboring gene tetraspanin 16 Neighboring gene uncharacterized HSPC102 Neighboring gene RAB3D, member RAS oncogene family

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
Adams-Oliver syndrome 2
MedGen: C3280182 OMIM: 614219 GeneReviews: Adams-Oliver Syndrome
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
NHGRI GWA Catalog
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dedicator of cytokinesis protein 6

NCBI Reference Sequences (RefSeq)

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_031953.1 RefSeqGene

    Range
    4969..68198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001367830.1NP_001354759.1  dedicator of cytokinesis protein 6 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011472
  2. NM_020812.4NP_065863.2  dedicator of cytokinesis protein 6 isoform 1

    See identical proteins and their annotated locations for NP_065863.2

    Status: REVIEWED

    Source sequence(s)
    AB037816, AC011472, AK316063, BC008335, CV571923, CX759906, DC333132
    Consensus CDS
    CCDS45975.1
    UniProtKB/Swiss-Prot
    Q96HP0
    UniProtKB/TrEMBL
    B7Z9U8
    Related
    ENSP00000294618.6, ENST00000294618.12
    Conserved Domains (3) summary
    cd08696
    Location:547724
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11702
    Location:15922014
    DHR2_DOCK6; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 6
    pfam11878
    Location:65155
    DUF3398; Domain of unknown function (DUF3398)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    11199295..11262524 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260000.2XP_005260057.1  dedicator of cytokinesis protein 6 isoform X6

    Conserved Domains (3) summary
    cd08696
    Location:547724
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11702
    Location:16582080
    DHR2_DOCK6; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 6
    pfam11878
    Location:65155
    DUF3398; Domain of unknown function (DUF3398)
  2. XM_011528152.1XP_011526454.1  dedicator of cytokinesis protein 6 isoform X4

    Conserved Domains (3) summary
    cd08696
    Location:558735
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11702
    Location:16032025
    DHR2_DOCK6; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 6
    pfam11878
    Location:65155
    DUF3398; Domain of unknown function (DUF3398)
  3. XM_011528151.1XP_011526453.1  dedicator of cytokinesis protein 6 isoform X2

    Conserved Domains (3) summary
    cd08696
    Location:558735
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11702
    Location:16342056
    DHR2_DOCK6; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 6
    pfam11878
    Location:65155
    DUF3398; Domain of unknown function (DUF3398)
  4. XM_011528150.1XP_011526452.1  dedicator of cytokinesis protein 6 isoform X1

    Conserved Domains (3) summary
    cd08696
    Location:558735
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11702
    Location:16382060
    DHR2_DOCK6; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 6
    pfam11878
    Location:65155
    DUF3398; Domain of unknown function (DUF3398)
  5. XM_006722804.3XP_006722867.1  dedicator of cytokinesis protein 6 isoform X5

    Related
    ENSP00000468638.1, ENST00000587656.5
    Conserved Domains (1) summary
    cd11702
    Location:7041126
    DHR2_DOCK6; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 6
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