Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
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

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
rs369389970	G>A,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs372751467	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397509398	->A	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs730882238	TTAG>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs752015120	G>C	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs774877657	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs879255610	A>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1170041461	T>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1226716539	->A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1555697020	G>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained

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
MIRT943021	hsa-miR-4326	CLIP-seq
MIRT943022	hsa-miR-4649-3p	CLIP-seq
MIRT943023	hsa-miR-4745-3p	CLIP-seq
MIRT943024	hsa-miR-4747-3p	CLIP-seq
MIRT1979220	hsa-miR-148a	CLIP-seq
MIRT1979221	hsa-miR-148b	CLIP-seq
MIRT1979222	hsa-miR-152	CLIP-seq
MIRT1979223	hsa-miR-2467-3p	CLIP-seq
MIRT1979224	hsa-miR-3144-5p	CLIP-seq
MIRT1979225	hsa-miR-3191	CLIP-seq
MIRT1979226	hsa-miR-4323	CLIP-seq
MIRT1979227	hsa-miR-4652-5p	CLIP-seq
MIRT1979228	hsa-miR-4688	CLIP-seq
MIRT1979229	hsa-miR-4711-5p	CLIP-seq
MIRT1979230	hsa-miR-486-3p	CLIP-seq

Show/Hide all(10)

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:0005515	Function	Protein binding	IPI	32203420
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

MIM	HGNC	e!Ensembl
614194	19189	ENSG00000130158

Protein

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

	Reactome
			Factors involved in megakaryocyte development and platelet production

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Adams-Oliver Syndrome	adams-oliver syndrome 2, adams-oliver syndrome 1, adams-oliver syndrome	rs201387914, rs1555697020, rs372751467, rs374530179, rs1280482569, rs1226716539, rs1555826472, rs397509398, rs752015120, rs397509399, rs730882238, rs879255610	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
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.
Aortic Valve Sclerosis	Aortic valve stenosis	N/A	N/A	GWAS
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Glaucoma	Glaucoma	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Microcephaly	microcephaly	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Intellectual Disability	Associate	35715422
Leukemia Myeloid Acute	Associate	24493670
Lymphoma Non Hodgkin	Associate	25091416
Metabolic Syndrome	Associate	32317770, 38201907
Microcephaly	Associate	33655927
Neoplasms	Associate	36761753
Non alcoholic Fatty Liver Disease	Associate	37679750
Osteitis Deformans	Associate	35241069
Retinal Detachment	Associate	33655927
Seizures	Associate	35715422

DOCK6 (dedicator of cytokinesis 6)