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Aliases for DOCK9 Gene

Aliases for DOCK9 Gene

  • Dedicator Of Cytokinesis 9 2 3 5
  • Cdc42 Guanine Nucleotide Exchange Factor Zizimin-1 3 4
  • Zizimin-1 3 4
  • ZIZ1 3 4
  • Dedicator Of Cytokinesis Protein 9 3
  • ZIZIMIN1 3
  • KIAA1058 4
  • Zizimin1 2

External Ids for DOCK9 Gene

Previous GeneCards Identifiers for DOCK9 Gene

  • GC13M097143
  • GC13M098243
  • GC13M099445
  • GC13M080039

Summaries for DOCK9 Gene

GeneCards Summary for DOCK9 Gene

DOCK9 (Dedicator Of Cytokinesis 9) is a Protein Coding gene. Diseases associated with DOCK9 include Feingold Syndrome 1 and Keratoconus. Among its related pathways are Regulation of CDC42 activity and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK11.

UniProtKB/Swiss-Prot for DOCK9 Gene

  • Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Overexpression induces filopodia formation.

Gene Wiki entry for DOCK9 Gene

Additional gene information for DOCK9 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOCK9 Gene

Genomics for DOCK9 Gene

GeneHancer (GH) Regulatory Elements for DOCK9 Gene

Promoters and enhancers for DOCK9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J099084 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 674.7 +1.9 1871 3.8 PKNOX1 ATF1 SIN3A DMAP1 ZNF2 YY1 ZNF121 GLIS2 ZFP91 SP3 DOCK9-DT DOCK9 GC13M099085
GH13J099089 Enhancer 0.2 dbSUPER 650.7 -1.6 -1569 0.7 DOCK9 DOCK9-DT RPS6P23
GH13J099052 Enhancer 1.3 Ensembl ENCODE dbSUPER 36.5 +34.1 34105 3.1 PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 E2F8 ATF7 DOCK9 DOCK9-DT DOCK9-AS1 RNU6-83P GC13M099085
GH13J098971 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18.8 +113.1 113065 8 TCF12 ZNF766 GATA2 ATF7 NCOA1 ATF4 SMARCA4 MYNN KDM1A MEIS2 DOCK9-DT DOCK9 RNU6-83P DOCK9-AS1 GC13M098967 RPL7L1P12
GH13J099295 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.6 -217.3 -217346 20.9 HDGF PKNOX1 ATF1 SMAD1 ARNT FEZF1 IRF4 TCF12 ZNF121 ZNF766 GPR183 UBAC2 MIR623 DOCK9 GPR18 CLYBL GC13M099261 GC13P099277
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DOCK9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DOCK9 gene promoter:
  • Gfi-1
  • CUTL1
  • E2F-5
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F
  • FOXO1a
  • FOXO1

Genomic Locations for DOCK9 Gene

Genomic Locations for DOCK9 Gene
chr13:98,793,429-99,088,618
(GRCh38/hg38)
Size:
295,190 bases
Orientation:
Minus strand
chr13:99,445,741-99,738,879
(GRCh37/hg19)
Size:
293,139 bases
Orientation:
Minus strand

Genomic View for DOCK9 Gene

Genes around DOCK9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOCK9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOCK9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOCK9 Gene

Proteins for DOCK9 Gene

  • Protein details for DOCK9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZ29-DOCK9_HUMAN
    Recommended name:
    Dedicator of cytokinesis protein 9
    Protein Accession:
    Q9BZ29
    Secondary Accessions:
    • B3KX25
    • E9PFM9
    • Q5JUD4
    • Q5JUD6
    • Q5T2Q1
    • Q5TAN8
    • Q9BZ25
    • Q9BZ26
    • Q9BZ27
    • Q9BZ28
    • Q9UPU4

    Protein attributes for DOCK9 Gene

    Size:
    2069 amino acids
    Molecular mass:
    236446 Da
    Quaternary structure:
    • Homodimer (Probable). Interacts preferentially with nucleotide-depleted CDC42.
    Miscellaneous:
    • Zizim means spike in Hebrew.
    SequenceCaution:
    • Sequence=BAA83010.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DOCK9 Gene

    Alternative splice isoforms for DOCK9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DOCK9 Gene

Post-translational modifications for DOCK9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DOCK9 Gene

Domains & Families for DOCK9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZ29

UniProtKB/Swiss-Prot:

DOCK9_HUMAN :
  • The DHR-2 domain is necessary and sufficient for the GEF activity.
  • Belongs to the DOCK family.
Domain:
  • The DHR-2 domain is necessary and sufficient for the GEF activity.
Family:
  • Belongs to the DOCK family.
genes like me logo Genes that share domains with DOCK9: view

Function for DOCK9 Gene

Molecular function for DOCK9 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Overexpression induces filopodia formation.

Phenotypes From GWAS Catalog for DOCK9 Gene

Gene Ontology (GO) - Molecular Function for DOCK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity ISS --
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 18729074
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with DOCK9: view
genes like me logo Genes that share phenotypes with DOCK9: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DOCK9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DOCK9 Gene

Localization for DOCK9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOCK9 Gene

Endomembrane system. Note=Associated with membranes. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DOCK9 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
plasma membrane 2
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DOCK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol TAS --
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with DOCK9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DOCK9 Gene

Pathways & Interactions for DOCK9 Gene

genes like me logo Genes that share pathways with DOCK9: view

Pathways by source for DOCK9 Gene

1 BioSystems pathway for DOCK9 Gene
1 GeneGo (Thomson Reuters) pathway for DOCK9 Gene

Gene Ontology (GO) - Biological Process for DOCK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007596 blood coagulation TAS --
GO:0008150 biological_process ND --
GO:0043547 positive regulation of GTPase activity ISS --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with DOCK9: view

No data available for SIGNOR curated interactions for DOCK9 Gene

Drugs & Compounds for DOCK9 Gene

(1) Drugs for DOCK9 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DOCK9: view

Transcripts for DOCK9 Gene

Unigene Clusters for DOCK9 Gene

Dedicator of cytokinesis 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DOCK9

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOCK9 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -
SP16:
SP17:

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35a · 35b · 35c · 35d ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40a · 40b · 40c ^ 41a · 41b · 41c ^ 42 ^
SP1:
SP2:
SP3:
SP4: - - - -
SP5:
SP6: -
SP7: -
SP8: - -
SP9:
SP10:
SP11: - - - - -
SP12: - - - - - -
SP13: - - - - - - -
SP14: - -
SP15:
SP16:
SP17:

ExUns: 43a · 43b · 43c ^ 44 ^ 45 ^ 46a · 46b · 46c ^ 47 ^ 48 ^ 49 ^ 50 ^ 51a · 51b · 51c ^ 52a · 52b ^ 53a · 53b ^ 54a · 54b ^ 55 ^ 56 ^ 57 ^ 58 ^ 59a ·
SP1:
SP2:
SP3: - - - -
SP4: - - - - - -
SP5: - - -
SP6: - -
SP7: - - - -
SP8:
SP9:
SP10: - -
SP11: - -
SP12: - -
SP13: - -
SP14:
SP15:
SP16:
SP17:

Relevant External Links for DOCK9 Gene

GeneLoc Exon Structure for
DOCK9
ECgene alternative splicing isoforms for
DOCK9

Expression for DOCK9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DOCK9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DOCK9 Gene

This gene is overexpressed in Breast (37.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DOCK9 Gene



Protein tissue co-expression partners for DOCK9 Gene

NURSA nuclear receptor signaling pathways regulating expression of DOCK9 Gene:

DOCK9

SOURCE GeneReport for Unigene cluster for DOCK9 Gene:

Hs.596105

mRNA Expression by UniProt/SwissProt for DOCK9 Gene:

Q9BZ29-DOCK9_HUMAN
Tissue specificity: Widely expressed, with highest expression in heart and placenta. Expressed at intermediate level in kidney, brain, lung and skeletal muscle.

Evidence on tissue expression from TISSUES for DOCK9 Gene

  • Nervous system(4.8)
  • Eye(4.4)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with DOCK9: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DOCK9 Gene

Orthologs for DOCK9 Gene

This gene was present in the common ancestor of animals.

Orthologs for DOCK9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOCK9 34 33
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DOCK9 34 33
  • 91.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DOCK9 34 33
  • 90.15 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK9 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dock9 16 34 33
  • 87.4 (n)
rat
(Rattus norvegicus)
Mammalia Dock9 33
  • 87.14 (n)
oppossum
(Monodelphis domestica)
Mammalia DOCK9 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves DOCK9 34 33
  • 80.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DOCK9 34
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24909 33
zebrafish
(Danio rerio)
Actinopterygii DOCK9 (2 of 2) 34
  • 71 (a)
OneToMany
dock9b 34 33
  • 70.85 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42533 33
  • 50.87 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008535 33
  • 50.32 (n)
worm
(Caenorhabditis elegans)
Secernentea F22G12.5 33
  • 42.8 (n)
Species where no ortholog for DOCK9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DOCK9 Gene

ENSEMBL:
Gene Tree for DOCK9 (if available)
TreeFam:
Gene Tree for DOCK9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DOCK9: view image

Paralogs for DOCK9 Gene

Paralogs for DOCK9 Gene

(9) SIMAP similar genes for DOCK9 Gene using alignment to 11 proteins:

  • DOCK9_HUMAN
  • A6H8Z6_HUMAN
  • B7ZVX0_HUMAN
  • B9EG73_HUMAN
  • H0Y3S1_HUMAN
  • H0Y572_HUMAN
  • H7BZ79_HUMAN
  • Q5JUD3_HUMAN
  • Q5JUD8_HUMAN
  • Q6ZSL5_HUMAN
  • Q7Z6H4_HUMAN

Pseudogenes.org Pseudogenes for DOCK9 Gene

genes like me logo Genes that share paralogs with DOCK9: view

Variants for DOCK9 Gene

Sequence variations from dbSNP and Humsavar for DOCK9 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs62620184 benign, not specified 98,902,367(-) G/A coding_sequence_variant, missense_variant
rs1000000649 -- 98,812,122(-) A/C genic_downstream_transcript_variant, intron_variant
rs1000017445 -- 99,006,194(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000086386 -- 99,064,052(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000091243 -- 98,886,705(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DOCK9 Gene

Variant ID Type Subtype PubMed ID
dgv1022n106 CNV deletion 24896259
dgv3358n54 CNV gain 21841781
dgv3359n54 CNV loss 21841781
dgv3360n54 CNV gain 21841781
esv1155114 CNV deletion 17803354
esv1956817 CNV deletion 18987734
esv2108331 CNV deletion 18987734
esv2492957 CNV deletion 19546169
esv2658888 CNV deletion 23128226
esv2664437 CNV deletion 23128226
esv2670219 CNV deletion 23128226
esv2674237 CNV deletion 23128226
esv27384 CNV loss 19812545
esv2747868 CNV deletion 23290073
esv2747869 CNV deletion 23290073
esv2747870 CNV deletion 23290073
esv2747871 CNV deletion 23290073
esv2747872 CNV deletion 23290073
esv3178284 CNV deletion 24192839
esv3393534 CNV duplication 20981092
esv3414500 CNV insertion 20981092
esv3550962 CNV deletion 23714750
esv3550963 CNV deletion 23714750
esv3633321 CNV loss 21293372
esv3633322 CNV loss 21293372
esv3633323 CNV loss 21293372
esv3791 CNV loss 18987735
esv3892433 CNV gain 25118596
nsv1038016 CNV gain 25217958
nsv1043886 CNV loss 25217958
nsv1049106 CNV gain 25217958
nsv1050094 CNV gain 25217958
nsv1069766 CNV deletion 25765185
nsv1130678 CNV deletion 24896259
nsv1138257 CNV deletion 24896259
nsv1141251 CNV deletion 24896259
nsv1146368 CNV deletion 26484159
nsv562927 CNV gain 21841781
nsv562934 CNV gain+loss 21841781
nsv562935 CNV gain 21841781
nsv826755 CNV loss 20364138
nsv977271 CNV duplication 23825009
nsv977386 CNV duplication 23825009

Variation tolerance for DOCK9 Gene

Residual Variation Intolerance Score: 1.47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.89; 74.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DOCK9 Gene

Human Gene Mutation Database (HGMD)
DOCK9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOCK9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOCK9 Gene

Disorders for DOCK9 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DOCK9 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
feingold syndrome 1
  • fglds1
keratoconus
  • conical cornea
- elite association - COSMIC cancer census association via MalaCards
Search DOCK9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DOCK9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DOCK9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DOCK9 Gene

Publications for DOCK9 Gene

  1. Zizimin1, a novel Cdc42 activator, reveals a new GEF domain for Rho proteins. (PMID: 12172552) Meller N … Schwartz MA (Nature cell biology 2002) 2 3 4 22 58
  2. Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity. (PMID: 12432077) Côté JF … Vuori K (Journal of cell science 2002) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Activation of Rho GTPases by DOCK exchange factors is mediated by a nucleotide sensor. (PMID: 19745154) Yang J … Barford D (Science (New York, N.Y.) 2009) 3 4 58
  5. Specific recognition of Rac2 and Cdc42 by DOCK2 and DOCK9 guanine nucleotide exchange factors. (PMID: 18056264) Kwofie MA … Skowronski J (The Journal of biological chemistry 2008) 3 22 58

Products for DOCK9 Gene

Sources for DOCK9 Gene

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