DOCK6 (dedicator of cytokinesis 6)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57572
Gene name Gene Name - the full gene name approved by the HGNC.
Dedicator of cytokinesis 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DOCK6
Synonyms (NCBI Gene) Gene synonyms aliases
AOS2, ZIR1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AOS2
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded p
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
SNP ID Visualize variation Clinical significance Consequence
rs79202547 C>G,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, genic upstream transcript variant, synonymous variant
rs145081732 G>A,T Conflicting-interpretations-of-pathogenicity Missense variant, synonymous variant, coding sequence variant
rs199922090 C>A,T Conflicting-interpretations-of-pathogenicity Missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs200393834 G>A Conflicting-interpretations-of-pathogenicity Intron variant
rs201387914 A>C,G Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
miRTarBase ID miRNA Experiments Reference
MIRT018644 hsa-miR-335-5p Microarray 18185580
MIRT044102 hsa-miR-361-5p CLASH 23622248
MIRT943018 hsa-miR-1324 CLIP-seq
MIRT943019 hsa-miR-138 CLIP-seq
MIRT943020 hsa-miR-1538 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005515 Function Protein binding IPI 32203420
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
GO:0007264 Process Small GTPase mediated signal transduction IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614194 19189 ENSG00000130158
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96HP0
Protein name Dedicator of cytokinesis protein 6
Protein function Acts as a guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11878 DUF3398 48 → 157 Domain of unknown function (DUF3398) Domain
PF14429 DOCK-C2 544 → 723 C2 domain in Dock180 and Zizimin proteins Domain
PF06920 DHR-2 1490 → 2016 Dock homology region 2 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at low level in spleen, cerebellum, hippocampus and in substantia nigra. {ECO:0000269|PubMed:10718198}.
Sequence 
MAASERRAFAHKINRTVAAEVRKQVSRERSGSPHSSRRCSSSLGVPLTEVVEPLDFEDVL
LSRPPDAEPGPLRDLVEFPADDLELLLQPRECRTTEPGIPKDEKLDAQVRAAVEMYIEDW
VIVHRRYQYLSAAYSPVTTDTQRERQKGLPRQVFEQDASGDERSGPEDSNDSRRGSGSPE
DTPRSSGASSIFDLRNLAADSLLPSLLERAAPEDVDRRNETLRRQHRPPALLTLYPAPDE
DEAVERCSRPEPPREHFGQRILVKCLSLKFEIEIEPIFGILALYDVREKKKISENFYFDL
NSDSMKGLLRAHGTHPAISTLARSAIFSVTYPSPDIFLVIKLEKVLQQGDISECCEPYMV
LKEVDTAKNKEKLEKLRLAAEQFCTRLGRYRMPFAWTAVHLANIVSSAGQLDRDSDSEGE
RRPAWTDRRRRGPQDRASSGDDACSFSGFRPATLTVTNFFKQEAERLSDEDLFKFLADMR
RPSSLLRRLRPVTAQLKIDISPAPENPHFCLSPELLHIKPYPDPRGRPTKEILEFPAREV
YAPHTSYRNLLYVYPHSLNFSSRQGSVRNLAVRVQYMTGEDPSQALPVIFGKSSCSEFTR
EAFTPVVYHNKSPEFYEEFKLHLPACVTENHHLLFTFYHVSCQPRPGTALETPVGFTWIP
LLQHGRLRTGPFCLPVSVDQPPPSYSVLTPDVALPGMRWVDGHKGVFSVELTAVSSVHPQ
DPYLDKFFTLVHVLEEGAFPFRLKDTVLSEGNVEQELRASLAALRLASPEPLVAFSHHVL
DKLVRLVIRPPIISGQIVNLGRGAFEAMAHVVSLVHRSLEAAQDARGHCPQLAAYVHYAF
RLPGTEPSLPDGAPPVTVQAATLARGSGRPASLYLARSKSISSSNPDLAVAPGSVDDEVS
RILASKLLHEELALQWVVSSSAVREAILQHAWFFFQLMVKSMALHLLLGQRLDTPRKLRF
PGRFLDDITALVGSVGLEVITRVHKDVELAEHLNASLAFFLSDLLSLVDRGFVFSLVRAH
YKQVATRLQSSPNPAALLTLRMEFTRILCSHEHYVTLNLPCCPLSPPASPSPSVSSTTSQ
SSTFSSQAPDPKVTSMFELSGPFRQQHFLAGLLLTELALALEPEAEGAFLLHKKAISAVH
SLLCGHDTDPRYAEATVKARVAELYLPLLSIARDTLPRLHDFAEGPGQRSRLASMLDSDT
EGEGDIAGTINPSVAMAIAGGPLAPGSRASISQGPPTASRAGCALSAESSRTLLACVLWV
LKNTEPALLQRWATDLTLPQLGRLLDLLYLCLAAFEYKGKKAFERINSLTFKKSLDMKAR
LEEAILGTIGARQEMVRRSRERSPFGNPENVRWRKSVTHWKQTSDRVDKTKDEMEHEALV
EGNLATEASLVVLDTLEIIVQTVMLSEARESVLGAVLKVVLYSLGSAQSALFLQHGLATQ
RALVSKFPELLFEEDTELCADLCLRLLRHCGSRISTIRTHASASLYLLMRQNFEIGHNFA
RVKMQVTMSLSSLVGTTQNFSEEHLRRSLKTILTYAEEDMGLRDSTFAEQVQDLMFNLHM
ILTDTVKMKEHQEDPEMLIDLMYRIARGYQGSPDLRLTWLQNMAGKHAELGNHAEAAQCM
VHAAALVAEYLALLEDHRHLPVGCVSFQNISSNVLEESAISDDILSPDEEGFCSGKHFTE
LGLVGLLEQAAGYFTMGGLYEAVNEVYKNLIPILEAHRDYKKLAAVHGKLQEAFTKIMHQ
SSGWERVFGTYFRVGFYGAHFGDLDEQEFVYKEPSITKLAEISHRLEEFYTERFGDDVVE
IIKDSNPVDKSKLDSQKAYIQITYVEPYFDTYELKDRVTYFDRNYGLRTFLFCTPFTPDG
RAHGELPEQHKRKTLLSTDHAFPYIKTRIRVCHREETVLTPVEVAIEDMQKKTRELAFAT
EQDPPDAKMLQMVLQGSVGPTVNQGPLEVAQVFLAEIPEDPKLFRHHNKLRLCFKDFCKK
CEDALRKNKALIGPDQKEYHRELERNYCRLREALQPLLTQRLPQLMAPTPPGLRNSLNRA
SFRKADL
Sequence length 2047
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Factors involved in megakaryocyte development and platelet production
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (11)
Causal
Disease term Disease name dbSNP ID References
Adams-oliver syndrome Adams Oliver syndrome, ADAMS-OLIVER SYNDROME 2, Adams-Oliver syndrome 1, Adams-Oliver syndrome rs41309764, rs387907031, rs1559999373, rs1226716539, rs387907270, rs387907271, rs397509398, rs397509399, rs587776993, rs587776994, rs587776995, rs587781259, rs587777735, rs587777736, rs730882238
View all (56 more)		 21820096, 25824905, 23522784, 29924900, 26457590
Aplasia cutis congenita Aplasia Cutis Congenita, Congenital defect of skull and scalp rs587777706
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Show/Hide Unknown Diseases (9)
Unknown
Disease term Disease name Evidence References Source
Cirrhosis Cirrhosis ClinVar
Porencephalic cyst Porencephalic cyst ClinVar
Adams-Oliver Syndrome Adams-Oliver syndrome GenCC
Aortic Valve Sclerosis Aortic Valve Sclerosis GWAS
Show/Hide Text Mining Associations (20)
Associations from Text Mining
Disease Name Relationship Type References
Adams Oliver syndrome Associate 23522784, 25091416, 26299364, 27693507, 28287327, 29924900, 33655927
Aortic Diseases Associate 25091416
Calcinosis Associate 25091416
Cognitive Dysfunction Associate 25091416
Conotruncal cardiac defects Associate 36789878
Familial Exudative Vitreoretinopathies Associate 33655927
Hypercholesterolemia Associate 32317770
Hyperglycemia Associate 32317770
Hyperostosis corticalis deformans juvenilis Associate 35241069
Hypertensive Retinopathy Associate 33655927