Gene Gene information from NCBI Gene database.
Entrez ID 23348
Gene name Dedicator of cytokinesis 9
Gene symbol DOCK9
Synonyms (NCBI Gene)
ZIZ1ZIZIMIN1
Chromosome 13
Chromosome location 13q32.3
miRNA miRNA information provided by mirtarbase database.
142
miRTarBase ID miRNA Experiments Reference
MIRT017247 hsa-miR-335-5p Microarray 18185580
MIRT028250 hsa-miR-32-5p Sequencing 20371350
MIRT051177 hsa-miR-16-5p CLASH 23622248
MIRT437669 hsa-miR-214-3p MicroarrayqRT-PCR 22815788
MIRT496323 hsa-miR-1277-5p PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity ISS
GO:0005515 Function Protein binding IPI 18729074
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607325 14132 ENSG00000088387
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZ29
Protein name Dedicator of cytokinesis protein 9 (Cdc42 guanine nucleotide exchange factor zizimin-1) (Zizimin-1)
Protein function Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Overexpression induces filopodia formation.
PDB 1WG7 , 2WM9 , 2WMN , 2WMO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11878 DUF3398 46 156 Domain of unknown function (DUF3398) Domain
PF00169 PH 175 281 PH domain Domain
PF14429 DOCK-C2 636 827 C2 domain in Dock180 and Zizimin proteins Domain
PF06920 DHR-2 1506 2062 Dock homology region 2 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest expression in heart and placenta. Expressed at intermediate level in kidney, brain, lung and skeletal muscle. {ECO:0000269|PubMed:12172552}.
Sequence
MSQPPLLPASAETRKFTRALSKPGTAAELRQSVSEVVRGSVLLAKPKLIEPLDYENVIVQ
KKTQILNDCLREMLLFPYDDFQTAILRRQGRYICSTVPAKAEEEAQSLFVTECIKTYNSD
WHLVNYKYEDYSGEFRQLPNKVVKLDKLPVHVYEVD
EEVDKDEDAASLGSQKGGITKHGW
LYKGNMNSAISVTMRSFKRRFFHLIQLGDGSYNLNFYKDEKISKEPKGSIFLDSCMGVVQ
NNKVRRFAFELKMQDKSSYLLAADSEVEMEEWITILNKILQ
LNFEAAMQEKRNGDSHEDD
EQSKLEGSGSGLDSYLPELAKSAREAEIKLKSESRVKLFYLDPDAQKLDFSSAEPEVKSF
EEKFGKRILVKCNDLSFNLQCCVAENEEGPTTNVEPFFVTLSLFDIKYNRKISADFHVDL
NHFSVRQMLATTSPALMNGSGQSPSVLKGILHEAAMQYPKQGIFSVTCPHPDIFLVARIE
KVLQGSITHCAEPYMKSSDSSKVAQKVLKNAKQACQRLGQYRMPFAWAARTLFKDASGNL
DKNARFSAIYRQDSNKLSNDDMLKLLADFRKPEKMAKLPVILGNLDITIDNVSSDFPNYV
NSSYIPTKQFETCSKTPITFEVEEFVPCIPKHTQPYTIYTNHLYVYPKYLKYDSQKSFAK
ARNIAICIEFKDSDEEDSQPLKCIYGRPGGPVFTRSAFAAVLHHHQNPEFYDEIKIELPT
QLHEKHHLLLTFFHVSCDNSSKGSTKKRDVVETQVGYSWLPLLKDGRVVTSEQHIPVSAN
LPSGYLGYQELGMGRHYGPEIKWVDGGKPLLKISTHLVSTVYTQDQH
LHNFFQYCQKTES
GAQALGNELVKYLKSLHAMEGHVMIAFLPTILNQLFRVLTRATQEEVAVNVTRVIIHVVA
QCHEEGLESHLRSYVKYAYKAEPYVASEYKTVHEELTKSMTTILKPSADFLTSNKLLKYS
WFFFDVLIKSMAQHLIENSKVKLLRNQRFPASYHHAVETVVNMLMPHITQKFRDNPEASK
NANHSLAVFIKRCFTFMDRGFVFKQINNYISCFAPGDPKTLFEYKFEFLRVVCNHEHYIP
LNLPMPFGKGRIQRYQDLQLDYSLTDEFCRNHFLVGLLLREVGTALQEFREVRLIAISVL
KNLLIKHSFDDRYASRSHQARIATLYLPLFGLLIENVQRINVRDVSPFPVNAGMTVKDES
LALPAVNPLVTPQKGSTLDNSLHKDLLGAISGIASPYTTSTPNINSVRNADSRGSLISTD
SGNSLPERNSEKSNSLDKHQQSSTLGNSVVRCDKLDQSEIKSLLMCFLYILKSMSDDALF
TYWNKASTSELMDFFTISEVCLHQFQYMGKRYIARTGMMHARLQQLGSLDNSLTFNHSYG
HSDADVLHQSLLEANIATEVCLTALDTLSLFTLAFKNQLLADHGHNPLMKKVFDVYLCFL
QKHQSETALKNVFTALRSLIYKFPSTFYEGRADMCAALCYEILKCCNSKLSSIRTEASQL
LYFLMRNNFDYTGKKSFVRTHLQVIISVSQLIADVVGIGGTRFQQSLSIINNCANSDRLI
KHTSFSSDVKDLTKRIRTVLMATAQMKEHENDPEMLVDLQYSLAKSYASTPELRKTWLDS
MARIHVKNGDLSEAAMCYVHVTALVAEYLTRKEAVQWEPPLLPHSHSACLRRSRGGVFRQ
GCTAFRVITPNIDEEASMMEDVGMQDVHFNEDVLMELLEQCADGLWKAERYELIADIYKL
IIPIYEKRRDFERLAHLYDTLHRAYSKVTEVMHSGRRLLGTYFRVAFFGQAAQYQFTDSE
TDVEGFFEDEDGKEYIYKEPKLTPLSEISQRLLKLYSDKFGSENVKMIQDSGKVNPKDLD
SKYAYIQVTHVIPFFDEKELQERKTEFERSHNIRRFMFEMPFTQTGKRQGGVEEQCKRRT
ILTAIHCFPYVKKRIPVMYQHHTDLNPIEVAIDEMSKKVAELRQLCSSAEVDMIKLQLKL
QGSVSVQVNAGPLAYARAFLDDTNTKRYPDNKVKLLKEVFRQFVEACGQALAVNERLIKE
DQLEYQEEMKANYREMAKELSE
IMHEQLG
Sequence length 2069
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Disorders Anxiety disorder Pubtator 34741163 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 35282771 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 17728666
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder LHGDN 17728666
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 17728666
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 32439797 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Pain Chronic pain Pubtator 38104003 Stimulate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 37501076 Associate
★☆☆☆☆
Found in Text Mining only
EDICT syndrome EDICT Syndrome BEFREE 23387289
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 22399802
★☆☆☆☆
Found in Text Mining only