Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9732
Gene name Gene Name - the full gene name approved by the HGNC.
Dedicator of cytokinesis 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DOCK4
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange facto
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005411 hsa-miR-155-5p Microarray 19193853
MIRT006313 hsa-miR-21-5p Immunoblot, Luciferase reporter assay, qRT-PCR 22158624
MIRT006313 hsa-miR-21-5p Immunoblot, Luciferase reporter assay, qRT-PCR 22158624
MIRT006313 hsa-miR-21-5p Immunoblot, Luciferase reporter assay, qRT-PCR 22158624
MIRT027576 hsa-miR-98-5p Microarray 19088304
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 IDA 16464467
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 16464467, 20679435, 21706016, 21988832, 31980649, 33961781, 34819669
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607679 19192 ENSG00000128512
Protein
UniProt ID Q8N1I0
Protein name Dedicator of cytokinesis protein 4
Protein function Functions as a guanine nucleotide exchange factor (GEF) that promotes the exchange of GDP to GTP, converting inactive GDP-bound small GTPases into their active GTP-bound form (PubMed:12628187, PubMed:16464467). Involved in regulation of adherens
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07653 SH3_2 10 64 Variant SH3 domain Domain
PF16172 DOCK_N 69 392 DOCK N-terminus Family
PF14429 DOCK-C2 397 583 C2 domain in Dock180 and Zizimin proteins Domain
PF06920 DHR-2 1092 1588 Dock homology region 2 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed at low level. Highly expressed in skeletal muscle, prostate and ovary. {ECO:0000269|PubMed:12628187}.; TISSUE SPECIFICITY: [Isoform 2]: May be specifically expressed in the brain and eye. {ECO:0000269|PubMed:16464467}.
Sequence
MWIPTEHEKYGVVIASFRGTVPYGLSLEIGDTVQILEKCDGWYRGFALKNPNIKGIFPSS
YVHL
KNACVKNKGQFEMVIPTEDSVITEMTSTLRDWGTMWKQLYVRNEGDLFHRLWHIMN
EILDLRRQVLVGHLTHDRMKDVKRHITARLDWGNEQLGLDLVPRKEYAMVDPEDISITEL
YRLMEHRHRKKDTPVQASSHHLFVQMKSLMCSNLGEELEVIFSLFDSKENRPISERFFLR
LNRNGLPKAPDKPERHCSLFVDLGSSELRKDIYITVHIIRIGRMGAGEKKNACSVQYRRP
FGCAVLSIADLLTGETKDDLILKVYMCNTESEWYQIHENIIKKLNARYNLTGSNAGLAVS
LQLLHGDIEQIRREYSSVFSHGVSITRKLGFS
NIIMPGEMRNDLYITIERGEFEKGGKSV
ARNVEVTMFIVDSSGQTLKDFISFGSGEPPASEYHSFVLYHNNSPRWSELLKLPIPVDKF
RGAHIRFEFRHCSTKEKGEKKLFGFSFVPLMQEDGRTLPDGTHELIVHKCEENTNLQDTT
RYLKLPFSKGIFLGNNNQAMKATKESFCITSFLCSTKLTQNGD
MLDLLKWRTHPDKITGC
LSKLKEIDGSEIVKFLQDTLDTLFGILDENSQKYGSKVFDSLVHIINLLQDSKFHHFKPV
MDTYIESHFAGALAYRDLIKVLKWYVDRITEAERQEHIQEVLKAQEYIFKYIVQSRRLFS
LATGGQNEEEFRCCIQELLMSVRFFLSQESKGSGALSQSQAVFLSSFPAVYSELLKLFDV
REVANLVQDTLGSLPTILHVDDSLQAIKLQCIGKTVESQLYTNPDSRYILLPVVLHHLHI
HLQEQKDLIMCARILSNVFCLIKKNSSEKSVLEEIDVIVASLLDILLRTILEITSRPQPS
SSAMRFQFQDVTGEFVACLLSLLRQMTDRHYQQLLDSFNTKEELRDFLLQIFTVFRILIR
PEMFPKDWTVMRLVANNVIITTVLYLSDALRKNFLNENFDYKIWDSYFYLAVIFINQLCL
QLEMFTPSKKKKVLEKYGDMRVTMGCEIFSMWQNLGEHKLHFIPALIGPFLEVTLIPQPD
LRNVMIPIFHDMMDWEQRRSGNFKQVEAKLIDKLDSLMSEGKGDETYRELFNSILLKKIE
RETWRESGVSLIATVTRLMERLLDYRDCMKMGEVDGKKIGCTVSLLNFYKTELNKEEMYI
RYIHKLYDLHLKAQNFTEAAYTLLLYDELLEWSDRPLREFLTYPMQTEWQRKEHLHLTII
QNFDRGKCWENGIILCRKIAEQYESYYDYRNLSKMRMMEASLYDKIMDQQRLEPEFFRVG
FYGKKFPFFLRNKEFVCRGHDYERLEAFQQRMLNEFPHAIAMQHANQPDETIFQAEAQYL
QIYAVTPIPESQEVLQREGVPDNIKSFYKVNHIWKFRYDRPFHKGTKDKENEFKSLWVER
TSLYLVQSLPGISRWFEVEKREVVEMSPLENAIEVLENKNQQLKTLISQCQTRQMQNINP
LTMCLNGVIDAAVNGGVSRYQEAFFVKEYILSHPEDGEKIARLRELMLEQAQILEFGLAV
HEKFVPQDMRPLHKKLVDQFFVMKSSLG
IQEFSACMQASPVHFPNGSPRVCRNSAPASVS
PDGTRVIPRRSPLSYPAVNRYSSSSLSSQASAEVSNITGQSESSDEVFNMQPSPSTSSLS
STHSASPNVTSSAPSSARASPLLSDKHKHSRENSCLSPRERPCSAIYPTPVEPSQRMLFN
HIGDGALPRSDPNLSAPEKAVNPTPSSWSLDSGKEAKNMSDSGKLISPPVPPRPTQTASP
ARHTTSVSPSPAGRSPLKGSVQSFTPSPVEYHSPGLISNSPVLSGSYSSGISSLSRCSTS
ETSGFENQVNEQSAPLPVPVPVPVPSYGGEEPVRKESKTPPPYSVYERTLRRPVPLPHSL
SIPVTSEPPALPPKPLAARSSHLENGARRTDPGPRPRPLPRKVSQL
Sequence length 1966
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Rap1 signaling pathway   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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asperger Syndrome Associate 26176695
Autism Spectrum Disorder Associate 33660564
Autistic Disorder Associate 19401682, 20346443, 24518835, 24599690, 36150388
Bone Marrow Failure Disorders Associate 21532034
Breast Neoplasms Associate 30426503
Carcinoma Non Small Cell Lung Inhibit 34783629
COVID 19 Associate 35657140
Developmental Disabilities Associate 33660564
Dyslexia Associate 20346443
Lymphoma Non Hodgkin Associate 19383911