Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23348
Gene name Gene Name - the full gene name approved by the HGNC.
Dedicator of cytokinesis 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DOCK9
Synonyms (NCBI Gene) Gene synonyms aliases
ZIZ1, ZIZIMIN1
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q32.3
miRNA miRNA information provided by mirtarbase database.
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 Microarray, qRT-PCR 22815788
MIRT496323 hsa-miR-1277-5p PAR-CLIP 22291592
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607325 14132 ENSG00000088387
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Irritable Bowel Syndrome Irritable bowel syndrome N/A N/A GWAS
Keratoconus keratoconus N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anxiety Disorders Associate 34741163
Atherosclerosis Associate 35282771
Carcinoma Pancreatic Ductal Associate 32439797
Chronic Pain Stimulate 38104003
Developmental Disabilities Associate 37501076
Irritable Bowel Syndrome Associate 34741163
Keratoconus Associate 22045297, 28159702, 28484309
Microcephaly Associate 37501076
Thyroid Neoplasms Associate 31856144, 36281116
Tuberculosis Meningeal Associate 34685683