Format

Send to:

Choose Destination

DOCK7 dedicator of cytokinesis 7 [ Homo sapiens (human) ]

Gene ID: 85440, updated on 4-Jul-2021

Summary

Official Symbol
DOCK7provided by HGNC
Official Full Name
dedicator of cytokinesis 7provided by HGNC
Primary source
HGNC:HGNC:19190
See related
Ensembl:ENSG00000116641 MIM:615730
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
ZIR2; DEE23; EIEE23
Summary
The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Expression
Ubiquitous expression in testis (RPKM 8.6), ovary (RPKM 6.0) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See DOCK7 in Genome Data Viewer
Location:
1p31.3
Exon count:
53
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (62454726..62688386, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (62920397..63154057, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378768 Neighboring gene ubiquitin specific peptidase 1 Neighboring gene angiopoietin like 3 Neighboring gene ribosomal protein L13a pseudogene 9 Neighboring gene autophagy related 4C cysteine peptidase Neighboring gene VISTA enhancer hs311

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
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
GeneReviews: Not available
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Epileptic encephalopathy, early infantile, 23
MedGen: C4014492 OMIM: 615859 GeneReviews: Not available
Compare labs
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
GeneReviews: Not available
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
GeneReviews: Not available
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
GeneReviews: Not available
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1771

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in axon TAS
Traceable Author Statement
more info
PubMed 
located_in basal part of cell TAS
Traceable Author Statement
more info
PubMed 
located_in focal adhesion HDA PubMed 
located_in growth cone TAS
Traceable Author Statement
more info
PubMed 
located_in neuron projection TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
dedicator of cytokinesis protein 7

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_033073.2 RefSeqGene

    Range
    5001..238643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271999.2NP_001258928.1  dedicator of cytokinesis protein 7 isoform 1

    See identical proteins and their annotated locations for NP_001258928.1

    Status: REVIEWED

    Source sequence(s)
    AB051558, AC103923, BG190976, BU567903, DQ341187, DR002667
    Consensus CDS
    CCDS60156.1
    UniProtKB/Swiss-Prot
    Q96N67
    Related
    ENSP00000413583.2, ENST00000454575.6
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16352107
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71159
    DUF3398; Domain of unknown function (DUF3398)
  2. NM_001272000.2NP_001258929.1  dedicator of cytokinesis protein 7 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AB051558, AC103923, AL451044, BG190976, BU567903, DQ118679, DR002667
    Consensus CDS
    CCDS81336.1
    UniProtKB/Swiss-Prot
    Q96N67
    Related
    ENSP00000489284.1, ENST00000634264.1
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16042078
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71159
    DUF3398; Domain of unknown function (DUF3398)
  3. NM_001272001.2NP_001258930.1  dedicator of cytokinesis protein 7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AB051558, AC103923, AL451044, BG190976, BU567903, DQ118680, DQ341187, DR002667
    Consensus CDS
    CCDS81335.1
    UniProtKB/Swiss-Prot
    Q96N67
    Related
    ENSP00000489499.1, ENST00000635123.1
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16042076
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71159
    DUF3398; Domain of unknown function (DUF3398)
  4. NM_001272002.2NP_001258931.1  dedicator of cytokinesis protein 7 isoform 5

    See identical proteins and their annotated locations for NP_001258931.1

    Status: REVIEWED

    Source sequence(s)
    AC103923, AK055401, AL138847, BX094950, DR002667
    Consensus CDS
    CCDS60157.1
    UniProtKB/Swiss-Prot
    Q96N67
    Related
    ENSP00000384446.2, ENST00000404627.3
    Conserved Domains (2) summary
    pfam11878
    Location:71159
    DUF3398; Domain of unknown function (DUF3398)
    cl14603
    Location:560600
    C2; C2 domain
  5. NM_001330614.2NP_001317543.1  dedicator of cytokinesis protein 7 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC096946, AC103923, AL138847, AL451044
    Consensus CDS
    CCDS81338.1
    UniProtKB/Swiss-Prot
    Q96N67
    Related
    ENSP00000251157.6, ENST00000251157.10
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16352109
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71159
    DUF3398; Domain of unknown function (DUF3398)
  6. NM_001367561.1NP_001354490.1  dedicator of cytokinesis protein 7 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC096946, AC103923, AL138847, AL451044
    Related
    ENSP00000489124.1, ENST00000635253.2
  7. NM_033407.4NP_212132.2  dedicator of cytokinesis protein 7 isoform 2

    See identical proteins and their annotated locations for NP_212132.2

    Status: REVIEWED

    Source sequence(s)
    AB051558, AC103923, AK125049, BG190976, BU567903, DQ341187, DR002667
    Consensus CDS
    CCDS30734.1
    UniProtKB/Swiss-Prot
    Q96N67
    Related
    ENSP00000340742.5, ENST00000340370.10
    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16132087
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71159
    DUF3398; Domain of unknown function (DUF3398)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    62454726..62688386 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002639.1XP_016858128.1  dedicator of cytokinesis protein 7 isoform X4

  2. XM_011542328.2XP_011540630.1  dedicator of cytokinesis protein 7 isoform X3

    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16442113
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71159
    DUF3398; Domain of unknown function (DUF3398)
  3. XM_011542327.2XP_011540629.1  dedicator of cytokinesis protein 7 isoform X2

    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:16442116
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71159
    DUF3398; Domain of unknown function (DUF3398)
  4. XM_011542330.2XP_011540632.1  dedicator of cytokinesis protein 7 isoform X6

    Conserved Domains (3) summary
    cd08696
    Location:560737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    pfam11878
    Location:71159
    DUF3398; Domain of unknown function (DUF3398)
    cl06123
    Location:16441834
    DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
  5. XM_017002640.1XP_016858129.1  dedicator of cytokinesis protein 7 isoform X5

Support Center