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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57572
Gene name	Dedicator of cytokinesis 6
Gene symbol	DOCK6
Synonyms (NCBI Gene)	AOS2ZIR1
Chromosome	19
Chromosome location	19p13.2
Summary	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

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

278

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adams-Oliver syndrome	Likely pathogenic; Pathogenic	rs765129469, rs730882238, rs374530179	RCV005356083 RCV000162169 RCV000600085
Adams-Oliver syndrome 1	Likely pathogenic; Pathogenic	rs372751467	RCV000761231
Adams-Oliver syndrome 2	Likely pathogenic; Pathogenic	rs775397068, rs936266747, rs747575528, rs1198436520, rs2147852182, rs1232184969, rs1192375765, rs1169546944, rs765129469, rs1169086609, rs730882238, rs538506091, rs2513039217, rs879255610, rs201387914 View all (9 more)	RCV001771676 RCV001329797 RCV003136112 RCV001775232 RCV001775233 RCV001783135 RCV001783137 RCV002221915 RCV002283936 RCV002287622 RCV000024123 RCV004798955 RCV003155894 RCV000239532 RCV000239583 RCV000024124 RCV001261946 RCV005860116 RCV005240345 RCV000626147 RCV005860141 RCV002226740 RCV000049239 RCV000049240
DOCK6-related disorder	Pathogenic; Likely pathogenic	rs747575528, rs2513039217, rs201387914, rs757170859, rs372751467	RCV003941023 RCV003396929 RCV004751400 RCV003939392 RCV003420034
Intellectual disability	Likely pathogenic	rs761856660	RCV001251729
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs1169546944, rs201387914	RCV005929877 RCV005891083
Nonpapillary renal cell carcinoma	Likely pathogenic	rs538506091	RCV005931991
Ovarian serous cystadenocarcinoma	Pathogenic	rs201387914	RCV005891084
Sarcoma	Likely pathogenic	rs368262294	RCV005930581

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Uncertain significance	rs8110957, rs773454770	RCV005914253 RCV005930367
Bone Paget disease	Conflicting classifications of pathogenicity	rs183060698	RCV001784475
Cervical cancer	Benign; Likely benign	rs8110957, rs8104277, rs7252321	RCV005914256 RCV005918463 RCV005902568
Cholangiocarcinoma	Benign; Uncertain significance	rs3745683, rs201976636	RCV005925340 RCV005923979
Clear cell carcinoma of kidney	Benign; Likely benign	rs8110957, rs767814446, rs200659753	RCV005914257 RCV005921188 RCV005911940
Colon adenocarcinoma	Benign; Likely benign	rs8110957, rs150276162	RCV005914252 RCV005908645
Colorectal cancer	Benign	rs8110957	RCV005914258
Gastric cancer	Benign; Likely benign	rs8110957, rs3745683, rs117014874	RCV005914260 RCV005925339 RCV005906097
Hepatocellular carcinoma	Likely benign	rs199613013	RCV005926274
Hydrocephalus, nonsyndromic, autosomal recessive 1	Uncertain significance	rs370838036	RCV000414816
Lung cancer	Benign	rs8110957	RCV005914264
Macrocephaly	Uncertain significance	rs370838036	RCV000414816
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs3745683, rs7252321	RCV005925338 RCV005902569
Malignant tumor of esophagus	Benign	rs8110957	RCV005914254
Melanoma	Uncertain significance	rs750314919	RCV005932057
Microcephaly	Conflicting classifications of pathogenicity; Uncertain significance	rs564554926, rs141161343, rs371041517	RCV001252806 RCV001252709 RCV001252876
See cases	Conflicting classifications of pathogenicity	rs373956807	RCV002252710
Thymoma	Benign; Likely benign	rs8110957, rs369430502, rs8104277	RCV005914262 RCV005916248 RCV005918465
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs8110957, rs764748107	RCV005914263 RCV005931397
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs8110957, rs8104277, rs7252321, rs150276162	RCV005914265 RCV005918466 RCV005902570 RCV005908647

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)