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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DOCK6 Gene

protein-coding GIFtS: 57
GCID: GC19M011309

dedicator of cytokinesis 6

Explore 9 diseases affiliated with
DOCK6 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Dedicator Of Cytokinesis 6¹ ²
ZIR1¹ ²
KIAA1395¹ ³
AOS2²
Dedicator Of Cytokinesis Protein 6²

External Ids:	HGNC: 19189¹	Entrez Gene: 57572²	Ensembl: ENSG00000130158⁷	OMIM: 614194⁵	UniProtKB: Q96HP0³

Export aliases for DOCK6 gene to outside databases

Previous GC identifers: GC19U900290 GC19M011171 GC19M011172 GC19M010887

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DOCK6:

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 protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by

activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2.

(provided by RefSeq, Dec 2011)

UniProtKB/Swiss-Prot: DOCK6_HUMAN, Q96HP0

Function: Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of

CDC42 and RAC1, may regulate neurite outgrowth (By similarity)

Gene Wiki entry for DOCK6 (Dock6)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DOCK6 gene promoter:
Bach1 Max1 Tal-1 RREB-1 MyoD AP-4 NF-kappaB E47 C/EBPalpha NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DOCK6 promoter sequence

Search SABiosciences Chromatin IP Primers for DOCK6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DOCK6

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2 Ensembl cytogenetic band: 19p13.2 HGNC cytogenetic band: 19p13.2

DOCK6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DOCK6 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M011309: view genomic region (about GC identifiers)

Start:	11,309,971 bp from pter	End:	11,373,157 bp from pter
Size:	63,187 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DOCK6_HUMAN, Q96HP0 (See protein sequence)

Recommended Name: Dedicator of cytokinesis protein 6

Size: 2047 amino acids; 229558 Da

Subcellular location: Cytoplasm. Cytoplasm, perinuclear region. Note=Mainly located near the cell surface

Sequence caution: Sequence=AAH08335.2; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAA92633.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: A6H8X5 Q7Z7P4 Q9P2F2

Explore the universe of human proteins at neXtProt for DOCK6: NX_Q96HP0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96HP0

DOCK6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_065863.2

ENSEMBL proteins:

ENSP00000294618 ENSP00000468291 ENSP00000468638 ENSP00000467231 ENSP00000467191

ENSP00000465767 ENSP00000321556

Reactome Protein details: Q96HP0
Human Recombinant Protein Products for DOCK6:

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	GenScript Custom Purified and Recombinant Proteins Services for DOCK6
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DOCK6

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0048471	perinuclear region of cytoplasm	IEA	--

DOCK6 for ontologies About GeneDecksing

DOCK6 Antibody Products:

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	Search for Antibodies for DOCK6 at Abcam
	Uscn Antibodies for DOCK6
	Search ThermoFisher Antibodies for DOCK6

Assay Products for DOCK6:

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	Uscn ELISAs and CLIAs for DOCK6

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DOCK6 for domains About GeneDecksing

5 InterPro domains/families:

IPR021816 DOCK_C/D_N

IPR027007 DOCK-C2

IPR026791 DOCK

IPR010703 DOCK_C

IPR026798 DOCK_C_fam

Graphical View of Domain Structure for InterPro Entry Q96HP0

ProtoNet protein and cluster: Q96HP0

1 Blocks protein family: IPB010703 Dedicator of cytokinesis

UniProtKB/Swiss-Prot: DOCK6_HUMAN, Q96HP0

Domain: The DHR-2 domain may mediate some GEF activity (By similarity)

Similarity: Belongs to the DOCK family

Similarity: Contains 1 DHR-1 domain

Similarity: Contains 1 DHR-2 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DOCK6_HUMAN, Q96HP0

Function: Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of

CDC42 and RAC1, may regulate neurite outgrowth (By similarity)

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	--
GO:0005525	GTP binding	--	--
GO:0051020	GTPase binding	--	--

DOCK6 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for DOCK6:

Stronger migration

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DOCK6

miRNA Products:		OriGene 3'-UTR Clone: DOCK6 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOCK6
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate DOCK6:
		hsa-miR-152 hsa-miR-148b hsa-miR-148a
		SwitchGear 3'UTR luciferase reporter plasmid: DOCK6 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DOCK6 (see all 6) OriGene siRNA: DOCK6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOCK6
		Sirion Biotech Custom design and validation of potent shRNA sequences against DOCK6

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for DOCK6
			Sirion Biotech Customized adenovirus for overexpression of DOCK6 Sirion Biotech Customized adenovirus for potent knockdown of DOCK6

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DOCK6 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DOCK6 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DOCK6 (NM_020812)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DOCK6
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOCK6

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DOCK6
		Search LifeMap BioReagents cell lines for DOCK6
		Sirion Biotech Customized stable knockdown cell line services for DOCK6 Sirion Biotech Customized inducible knockdown cell line services for DOCK6

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOCK6

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

G-protein signaling Regulation of RAC1 activity

G-protein signaling Regulation of CDC42 activity

0.25

G-protein signaling_Regulation of CDC42 activity

0.25

Factors involved in megakaryocyte development and platelet production

Factors involved in megakaryocyte development and platelet production

1.00

Regulation of CDC42 activity

Regulation of CDC42 activity

1.00

Regulation of RAC1 activity

Regulation of RAC1 activity

1.00

Platelet activation, signaling and aggregation

Hemostasis

0.43

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for DOCK6

G-protein signaling Regulation of CDC42 activity

1 GeneGo (Thomson Reuters) Pathway for DOCK6

G-protein signaling Regulation of CDC42 activity

2 BioSystems Pathways for DOCK6

	Regulation of CDC42 activity
	Regulation of RAC1 activity

2 Reactome Pathways for DOCK6

	Hemostasis
	Factors involved in megakaryocyte development and platelet production

DOCK6 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for DOCK6

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/8 Interacting proteins for DOCK6 (Q96HP0³ ENSP00000294618⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TADA2A	O75478³, ENSP00000225396⁴	I2D: score=1 STRING: ENSP00000225396
CDC42	ENSP00000314458⁴	STRING: ENSP00000314458
DOCK11	ENSP00000276202⁴	STRING: ENSP00000276202
DOCK9	ENSP00000365643⁴	STRING: ENSP00000365643
RAC1	ENSP00000348461⁴	STRING: ENSP00000348461

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007264	small GTPase mediated signal transduction	IEA	--
GO:0007596	blood coagulation	TAS	--

DOCK6 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DOCK6

3 HMDB Compounds for DOCK6 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine monophosphate	5'-GMP (see all 14)	85-32-5	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

Search CenterWatch for drugs/clinical trials and news about DOCK6

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DOCK6 gene:

NM_020812.3

Unigene Cluster for DOCK6:

Dedicator of cytokinesis 6

Hs.591002 [show with all ESTs]

Unigene Representative Sequence: NM_020812

17 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000586702 ENST00000294618(uc002mqs.4) ENST00000587734 ENST00000587656

ENST00000588666 ENST00000592463 ENST00000588429 ENST00000592403 ENST00000592550

ENST00000590680 ENST00000590452 ENST00000585904 ENST00000591750 ENST00000585609

ENST00000586482 ENST00000587572 ENST00000319867(uc002mqr.4 uc010xlq.2)

miRNA Products:		OriGene 3'-UTR Clone: DOCK6 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOCK6
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate DOCK6:
		hsa-miR-152 hsa-miR-148b hsa-miR-148a
		SwitchGear 3'UTR luciferase reporter plasmid: DOCK6 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DOCK6 (see all 6) OriGene siRNA: DOCK6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOCK6
		Sirion Biotech Custom design and validation of potent shRNA sequences against DOCK6

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DOCK6 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DOCK6 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DOCK6 (NM_020812)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DOCK6
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOCK6

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DOCK6 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DOCK6
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOCK6
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOCK6

Additional cDNA sequence:

AB037816.2 AK295664.1 AK316063.1 AY927481.1 AY927545.1 AY927568.1 BC008335.1 BC051330.1

BC146786.1

13 DOTS entries:

DT.454372 DT.75184777 DT.121410694 DT.100773530 DT.91764418 DT.100781397 DT.92010881 DT.95201596

DT.97773588 DT.97802306 DT.121410681 DT.75199149 DT.97794197

24/217 AceView cDNA sequences (see all 217):

BQ003217 AW071657 BQ007034 BI770146 BX282634 AI368427 BX281653 BM981651

BU688383 AA653085 AU122398 AI273413 AK022412 BU733395 BQ001038 AI660050

BQ182063 AI653377 BX280028 AI198543 BM985264 BM988042 BU856964 CA445968

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for DOCK6 (see all 13) About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	·	4c	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17a	·	17b	^	18	^	19a	·	19b	^	20	^	21	^
SP1:
SP2:									-		-
SP3:
SP4:									-		-
SP5:

ExUns:	22	^	23a	·	23b	^	24	^	25a	·	25b	^	26	^	27	^	28	^	29a	·	29b	·	29c	^	30a	·	30b	^	31	^	32	^	33	^	34a	·	34b	^	35
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for DOCK6

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DOCK6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGAAGAAGA

About this image

DOCK6 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Afferent Arteriole

Juxtaglomerular Cells

Kidney, Smooth Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See DOCK6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DOCK6

SOURCE GeneReport for Unigene cluster: Hs.591002

UniProtKB/Swiss-Prot: DOCK6_HUMAN, Q96HP0

Tissue specificity: Widely expressed. Expressed at low level in spleen, cerebellum, hippocampus and in substantia nigra

SABiosciences Custom PCR Arrays for DOCK6

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DOCK6 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOCK6
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOCK6

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOCK6

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for DOCK6 gene from 7/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dock6^{1 , 5}	dedicator of cytokinesis 6^{1, 5}	82.92(n)¹ 89.39(a)¹		9 (7.89 cM)⁵ 319899¹ NM_177030.3¹ NP_796004.2¹ 21800184⁵
lizard (Anolis carolinensis)	Reptilia	DOCK6⁶	--	71(a)	1 ↔ 1	2(79371189-79462506)
zebrafish (Danio rerio)	Actinopterygii	LOC553459¹	uncharacterized protein LOC553459	69.25(n) 72(a)		553459 XM_002661264.1 XP_002661310.1
fruit fly (Drosophila melanogaster)	Insecta	CG11376⁶	--	46(a)	possible ortholog	2L(94739-102086)
worm (Caenorhabditis elegans)	Secernentea	F46H5.4⁶	Protein F46H5.4	29(a)	1 → many	X(7245034-7254747)
thale cress (Arabidopsis thaliana)	eudicotyledons	SPK1⁶	guanyl-nucleotide exchange factor / GTPase binding...	22(a)	1 → many	4(9228185-9241317)
rice (Oryza sativa)	Liliopsida	--	guanine nucleotide exchange factor, putative, expr...	23(a)	1 → many	3(12000006-12006559)

ENSEMBL Gene Tree for DOCK6 (if available)
TreeFam Gene Tree for DOCK6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DOCK6 gene

DOCK9² DOCK7² DOCK11² DOCK10² DOCK8²

8 SIMAP similar genes for DOCK6 using alignment to 7 protein entries: DOCK6_HUMAN (see all proteins):

DOCK7 DOCK8 DOCK10 DOCK9 DKFZp686N04132 DRIP2

Nbla10300 DKFZp781A1532

DOCK6 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs139686307^1,2	C	--	11310244(+)	`CAGCAC/TGGCCA`	1	--	int¹		0	--	--	--	--
rs115477715^1,2	F	--	11310388(+)	`CACCAC/TGGAAG`	1	--	int¹		1		WA	118
rs7246614^1,2	C,F,A,H	--	11310538(+)	`GCCACC/TGCAGC`	1	--	int¹		11		NA WA CSA EA	374
rs78115797^1,2	C	--	11310548(+)	`CCAGGC/TGTGGT`	1	--	int¹		2		WA	120
rs60708544^1,2	C	--	11310549(+)	`CAGGCG/ATGGTG`	1	--	int¹		1		WA	2
rs147689116^1,2		--	11310636(+)	`TCTGGA/CCAACA`	1	--	int¹		0	--	--	--	--
rs117148536^1,2	F	--	11310808(+)	`GGCAAC/TAGAGG`	1	--	int¹		1		EA	120
rs8101206^1,2	C,F,A	--	11310836(+)	`AAAAAA/CAAAAA`	1	--	int¹		3		NA WA CSA	6
rs8101345^1,2	C,F,A	--	11310920(+)	`CTGTAC/TCTGTC`	1	--	int¹		14		NA WA CSA EA	558
rs201792003^1,2		--	11311053(+)	`CCTCCC/TGCAGG`	2	Q R	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DOCK6 (11309971 - 11373157 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 13 variations for DOCK6
8 CNVs: 78084 89090 78089 73312 78087 89091 78086 89092
5 Indels: 89094 78085 89093 89095 78088
Human Gene Mutation Database (HGMD): DOCK6

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DOCK6

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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DOCK6 for disorders About GeneDecksing

OMIM gene information: 614194 OMIM disorders: --

UniProtKB/Swiss-Prot: DOCK6_HUMAN, Q96HP0

Defects in DOCK6 are the cause of Adams-Oliver syndrome type 2 (AOS2) [MIM:614219]. A disorder characterized

by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis

congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior

parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are

typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely,

metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects,

syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable

and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata

and dilated scalp veins

9 diseases for DOCK6: About MalaCards

adams oliver syndrome oliver syndrome aplasia cutis congenita pilomyxoid astrocytoma

pilocytic astrocytoma ectrodactyly ganglioneuroblastoma syndactyly

astrocytoma

3 diseases from the University of Copenhagen DISEASES database for DOCK6:

Pilomyxoid astrocytoma Ganglioneuroblastoma Pilocytic astrocytoma

Export disorders for DOCK6 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for DOCK6 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with DOCK6)

Utopia: connect your pdf to the dynamic
world of online information

Identification of an evolutionarily conserved superfamily of DOCK180- related proteins with guanine nucleotide exchange activity. (PubMed id 12432077)^{1, 2, 3} Cote J.-F. and Vuori K. (2002)
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. (PubMed id 21820096)^{1, 2} Shaheen R.... Alkuraya F.S. (2011)
Dock6, a Dock-C subfamily guanine nucleotide exchange r, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth. (PubMed id 17196961)^{1, 2} Miyamoto Y....Tanoue A. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)^{1, 2} Nagase T.... Ohara O. (2000)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Genome-wide association study of coronary heart disea se and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PubMed id 21347282)¹ Lettre G....Boerwinkle E. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)¹ Teslovich T.M....Kathiresan S. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 57572	HGNC: 19189	AceView: DOCK6	Ensembl:ENSG00000130158	euGenes: HUgn57572
ECgene: DOCK6	H-InvDB: DOCK6

(According to HUGE)
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HUGE: KIAA1395

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for DOCK6	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DOCK6 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DOCK6 gene:
Search GeneIP for patents involving DOCK6

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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