Gene Gene information from NCBI Gene database.
Entrez ID 9732
Gene name Dedicator of cytokinesis 4
Gene symbol DOCK4
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7q31.1
Summary 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.
203
miRTarBase ID miRNA Experiments Reference
MIRT005411 hsa-miR-155-5p Microarray 19193853
MIRT006313 hsa-miR-21-5p ImmunoblotLuciferase reporter assayqRT-PCR 22158624
MIRT006313 hsa-miR-21-5p ImmunoblotLuciferase reporter assayqRT-PCR 22158624
MIRT006313 hsa-miR-21-5p ImmunoblotLuciferase reporter assayqRT-PCR 22158624
MIRT027576 hsa-miR-98-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607679 19192 ENSG00000128512
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder Likely pathogenic rs2536798545, rs2536768544, rs1799458667 RCV003388865
RCV003388866
RCV003388867
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Uncertain significance rs2537041242 RCV003447827
DOCK4-related disorder Uncertain significance; Likely benign; Benign rs1483364539, rs776053096, rs1401315161, rs1222600731, rs2536768793, rs549577916, rs2536288745, rs34597439, rs186031092 RCV003397280
RCV003418883
RCV003909297
RCV003981566
RCV003892270
RCV003902096
RCV003926854
RCV003976645
RCV003910575
Gastric cancer Likely benign rs200903684 RCV005902631
Associations from Text MiningDisease 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