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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DOCK8 Gene

protein-coding GIFtS: 56
GCID: GC09P000263

dedicator of cytokinesis 8

Explore 20 diseases affiliated with
DOCK8 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 8¹ ²		FLJ00152¹
ZIR8¹ ²		FLJ00346¹
MRD2² ⁵		1200017A24Rik²
FLJ00026¹		Dedicator Of Cytokinesis Protein 8²

External Ids:	HGNC: 19191¹	Entrez Gene: 81704²	Ensembl: ENSG00000107099⁷	OMIM: 611432⁵	UniProtKB: Q8NF50³

Export aliases for DOCK8 gene to outside databases

(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 DOCK8:

This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange

factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene

result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding

different isoforms have been described.(provided by RefSeq, Jun 2010)

UniProtKB/Swiss-Prot: DOCK8_HUMAN, Q8NF50

Function: Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging

bound GDP for free GTP (By similarity)

Gene Wiki entry for DOCK8 (Dock8)

(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_000009.11 NC_018920.1 NT_008413.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DOCK8 gene promoter:
Nkx3-1 STAT1 Nkx3-1 v4 FOXO3 Nkx3-1 v1 FOXO3b FOXL1 Nkx3-1 v2 Nkx3-1 v3 FOXO3a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DOCK8 promoter sequence

Search SABiosciences Chromatin IP Primers for DOCK8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DOCK8

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

Entrez Gene cytogenetic band: 9p24.3 Ensembl cytogenetic band: 9p24.3 HGNC cytogenetic band: 9p24.3

DOCK8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DOCK8 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P000263: view genomic region (about GC identifiers)

Start:	214,854 bp from pter	End:	465,259 bp from pter
Size:	250,406 bases	Orientation:	plus 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: DOCK8_HUMAN, Q8NF50 (See protein sequence)

Recommended Name: Dedicator of cytokinesis protein 8

Size: 2099 amino acids; 238529 Da

Sequence caution: Sequence=AAG42221.1; Type=Frameshift; Positions=2067, 2083; Sequence=BAB84907.1; Type=Frameshift;

Positions=1956; Sequence=CAI46160.1; Type=Erroneous initiation;

Secondary accessions: A2A350 A2BDF2 A4FU78 B7ZLP0 E9PH09 Q3MV16 Q5JPJ1 Q8TEP1 Q8WUY2 Q9BYJ5 Q9H1Q2

Q9H1Q3 Q9H308 Q9H7P2

Alternative splicing: 4 isoforms: Q8NF50-1 Q8NF50-2 Q8NF50-3 Q8NF50-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DOCK8: NX_Q8NF50

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NF50

DOCK8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001177387.1 NP_001180465.1 NP_982272.2

ENSEMBL proteins:

ENSP00000418587 ENSP00000436628 ENSP00000408464 ENSP00000417082 ENSP00000418318

ENSP00000417691 ENSP00000419438 ENSP00000371768 ENSP00000371766 ENSP00000394888

Reactome Protein details: Q8NF50
Human Recombinant Protein Products:

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	Novus Biologicals DOCK8 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DOCK8

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--

DOCK8 for ontologies About GeneDecksing

DOCK8 Antibody Products:

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	Uscn ELISAs and CLIAs for DOCK8

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

DOCK8 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

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 Q8NF50

ProtoNet protein and cluster: Q8NF50

1 Blocks protein family: IPB010703 Dedicator of cytokinesis

UniProtKB/Swiss-Prot: DOCK8_HUMAN, Q8NF50

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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: DOCK8_HUMAN, Q8NF50

Function: Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging

bound GDP for free GTP (By similarity)

miRNA Products:		OriGene 3'-UTR Clone: DOCK8 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOCK8
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate DOCK8 (see all 9):
		hsa-miR-410 hsa-miR-3916 hsa-miR-3125 hsa-miR-214 hsa-miR-3119 hsa-miR-330-3p hsa-miR-32* hsa-miR-3148

		SwitchGear 3'UTR luciferase reporter plasmid: DOCK8 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 DOCK8 (see all 7) OriGene shRNA RFP: DOCK8 Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOCK8

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for DOCK8

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 DOCK8 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DOCK8 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): DOCK8 (NM_001190458)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOCK8

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DOCK8
		Search LifeMap BioReagents cell lines for DOCK8

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOCK8

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	--	--

DOCK8 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Dock8^tm1Ysfk for DOCK8
     3 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Dock8):

cellular

hematopoietic system

immune system

DOCK8 for phenotypes About GeneDecksing

(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

Factors involved in megakaryocyte development and platelet production

Factors involved in megakaryocyte development and platelet production

1.00

Platelet activation, signaling and aggregation

Hemostasis

0.43

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Reactome Pathways for DOCK8

	Hemostasis
	Factors involved in megakaryocyte development and platelet production

DOCK8 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for DOCK8

5/531 Interacting proteins for DOCK8 (Q8NF50^{2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 531)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD2	Q15796²^,³	MINT-61604 I2D: score=2
YWHAE	P62258²^,³	MINT-7947479 I2D: score=1
CDC42	P60953³	I2D: score=2
RAC1	P63000³	I2D: score=2
RHOJ	Q9H4E5³	I2D: score=1

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	--

DOCK8 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 DOCK8

3 HMDB Compounds for DOCK8 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 DOCK8

(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, 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 DOCK8 gene (3 alternative transcripts):

NM_001190458.1 NM_001193536.1 NM_203447.3

Unigene Cluster for DOCK8:

Dedicator of cytokinesis 8

Hs.132599 [show with all ESTs]

Unigene Representative Sequence: AL832270

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

ENST00000469197 ENST00000524396(uc011lls.1) ENST00000453981 ENST00000454469

ENST00000479404 ENST00000487230 ENST00000382341(uc003zgg.3) ENST00000483757(uc022bct.1)

ENST00000478380(uc010mgt.3) ENST00000469391 ENST00000495184(uc010mgu.3)

ENST00000474772 ENST00000382331(uc010mgw.2) ENST00000382329(uc003zgk.2)

ENST00000493666 ENST00000462618 ENST00000432829(uc003zgf.2 uc022bcu.1 uc010mgv.3)

miRNA Products:		OriGene 3'-UTR Clone: DOCK8 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOCK8
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate DOCK8 (see all 9):
		hsa-miR-410 hsa-miR-3916 hsa-miR-3125 hsa-miR-214 hsa-miR-3119 hsa-miR-330-3p hsa-miR-32* hsa-miR-3148

		SwitchGear 3'UTR luciferase reporter plasmid: DOCK8 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 DOCK8 (see all 7) OriGene shRNA RFP: DOCK8 Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOCK8

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DOCK8 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DOCK8 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): DOCK8 (NM_001190458)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DOCK8
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOCK8

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DOCK8 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DOCK8
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOCK8
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOCK8

Additional cDNA sequence:

AB191037.1 AF194407.1 AK024436.1 AK074081.1 AK090429.1 AK293353.1 AK310555.1 AL583913.1

AL832270.1 AY117695.1 BC019102.2 BC030518.1 BC045629.1 BC112894.1 BC130518.1 BC143929.1

HM991479.1 HM991480.1

19 DOTS entries:

DT.92046200 DT.100815495 DT.444744 DT.100815497 DT.40211008 DT.121162564 DT.121162545 DT.91896597

DT.92068106 DT.121162554 DT.95364658 DT.110514 DT.40110860 DT.75145507 DT.92040301 DT.95126001

DT.40264054 DT.448936 DT.95336573

24/178 AceView cDNA sequences (see all 178):

AK090429 BM479571 AA700965 AA252489 AY117695 BE326843 AA170814 AA321435

BM929401 NM_203447 AA732488 AK024436 AA400074 BU149158 AV702815 AW959798

AL832270 AA485050 BM457575 AL583913 AI621032 BG532296 AA401548 BM718059

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for DOCK8 (see all 12) About this scheme

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

ExUns:	19	^	20a	·	20b	·	20c	^	21	^	22	^	23	^	24	^	25	^	26	^	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38a	·	38b	^	39	^	40	^	41	^
SP1:																																			-
SP2:																																			-
SP3:
SP4:
SP5:

ExUns:	42	^	43	^	44	^	45	^	46	^	47	^	48	^	49	^	50	^	51	^	52a	·	52b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for DOCK8

(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

DOCK8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGGCACATA

About this image

DOCK8 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Zeugopod Epiphyseal End

Chondrocytes

Bone, Cartilage

Ovary

Antral Follicle

Mature Granulosa Cells

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See DOCK8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DOCK8

SOURCE GeneReport for Unigene cluster: Hs.132599

SABiosciences Custom PCR Arrays for DOCK8

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DOCK8 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOCK8
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOCK8

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOCK8

(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 DOCK8 gene from 8/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DOCK8¹	dedicator of cytokinesis 8	76.09(n) 81.93(a)		427348 XM_424926.3 XP_424926.3
lizard (Anolis carolinensis)	Reptilia	DOCK8⁶	--	80(a)	1 ↔ 1	2(50051487-50140830)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.3797²	Transcribed sequence with weak similarity to protein more	74.64(n)		BX730929.1
zebrafish (Danio rerio)	Actinopterygii	Dr.27090²	Danio rerio cDNA clone IMAGE6795491, partial cds	77.19(n)		BC056560.1
fruit fly (Drosophila melanogaster)	Insecta	CG11376⁶	--	42(a)	possible ortholog	2L(94739-102086)
worm (Caenorhabditis elegans)	Secernentea	F46H5.4⁶	Protein F46H5.4	28(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 DOCK8 (if available)
TreeFam Gene Tree for DOCK8 (if available)

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

Paralogs for DOCK8 gene

DOCK9² DOCK7² DOCK11² DOCK6² DOCK10²

18/50 SIMAP similar genes for DOCK8 using alignment to 12 protein entries: DOCK8_HUMAN (see all proteins) (see all similar genes):

SH3BP1 ARIH1 IDNK RHBG RPS13 SEC14L3

MRPL45 EIF3G LSM12 RRM2B CEP95 SNRPF

NCKAP1L NDC80 SLC16A3 TBCB ZNF554 ASCC1

DOCK8 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 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs112321280^1,2	C	pathogenic	336714(+)	`TTTCAA/GGCAGG`	6	K R	mis¹		0	--	--	--	--
rs488787^1,2	C,F,A,H,	--	212908(-)	`TCTGAA/GTTTCT`	2	--	ds500¹ us2k¹		21		NA EA NS CSA WA	2591
rs77862137^1,2	C,	--	212924(+)	`TCATCC/TGAAAG`	2	--	ds500¹ us2k¹		2		CSA WA	120
rs74623260^1,2		--	212931(+)	`AAAGGC/GTGACA`	2	--	ds500¹ us2k¹		1		NA	120
rs79590823^1,2	C,F,	--	212999(+)	`AGTCTC/GAGTTT`	2	--	us2k¹ ds500¹		1		EA	120
rs115559938^1,2	F,	--	213020(+)	`TTACAC/TATTTG`	2	--	ds500¹ us2k¹		1		WA	118
rs13294926^1,2	C,	--	213091(+)	`CAGTTT/ATGAAA`	2	--	ds500¹ us2k¹		3		NA	124
rs192565466^1,2		--	213101(+)	`AGTCAA/GAAACT`	2	--	ds500¹ us2k¹		0	--	--	--	--
rs79621870^1,2		--	213102(+)	`GTCAGA/CAACTC`	2	--	us2k¹ ds500¹		2		CSA WA	120
rs680654^1,2	C,F,A,H,	--	213149(+)	`TTTTCG/ATATGT`	2	--	us2k¹ ut3¹		8		NS EA CSA WA NA	778

HapMap Linkage Disequilibrium report for DOCK8 (214854 - 464854 bp, first 250kb of DOCK8)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 36 variations for DOCK8
15/32 CNVs (see all 32): 7738 31461 2780 3753 7742 37771 82853 53285 82850 82851 62874 44387 1807 100548 0125
4 Indels: 82856 47716 95784 82855
Human Gene Mutation Database (HGMD): DOCK8

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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.)
About This Section

DOCK8 for disorders           About GeneDecksing

OMIM gene information: 611432
OMIM disorders: 243700
UniProtKB/Swiss-Prot: DOCK8_HUMAN, Q8NF50

Defects in DOCK8 are the cause of hyperimmunoglobulin E recurrent infection syndrome autosomal recessive

(AR-HIES) [MIM:243700]. It is a rare disorder of immunity characterized by immunodeficiency, recurrent infections,

eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement

Defects in DOCK8 are the cause of mental retardation autosomal dominant type 2 (MRD2) [MIM:614113]. Mental

retardation is characterized by significantly below average general intellectual functioning associated with

impairments in adaptative behavior and manifested during the developmental period. Note=A chromosomal aberration

disrupting DOCK8 has been found in a patient with mental retardation and ectodermal dysplasia. DOCK8 is disrupted in

patients with mental retardation. A balanced translocation, t(X;9) (q13.1;p24)

20 diseases for DOCK8: About MalaCards

hyper-ige syndrome mental retardation, autosomal dominant 2 autosomal recessive hyper ige syndrome xy sex reversal

sex reversal otitis externa molluscum contagiosum developmental disabilities

job's syndrome lagophthalmos ectodermal dysplasia coronary aneurysm

combined immunodeficiency lymphopenia squamous cell carcinoma eczema

hepatocellular carcinoma immunodeficiency lung cancer carcinoma

4 diseases from the University of Copenhagen DISEASES database for DOCK8:

Molluscum contagiosum Primary immunodeficiency disease Pulmonary aspergilloma Lagophthalmos

Human Genome Epidemiology (HuGE) Navigator: DOCK8 (3 documents)

Export disorders for DOCK8 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)
About This Section

PubMed articles for DOCK8 gene, integrated from 9 sources (see all 36):
(articles sorted by number of sources associating them with DOCK8)

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

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. (PubMed id 18060736)^{1, 2, 9} Griggs B.L....Srivastava A.K. (2008)
Combined immunodeficiency associated with DOCK8 mutat ions. (PubMed id 19776401)^{1, 2, 9} Zhang Q....Su H.C. (2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (2004)
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)
Identification of an evolutionarily conserved superfamily of DOCK180- related proteins with guanine nucleotide exchange activity. (PubMed id 12432077)^{1, 2} Cote J.-F. and Vuori K. (2002)
Characterization of long cDNA clones from human adult spleen. (PubMed id 11214971)^{1, 3} Hattori A.... Ohara O. (2000)
The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex- related domain. (PubMed id 10729223)^{1, 2} Ottolenghi C.... McElreavey K. (2000)
Homozygous deletion and reduced expression of the DOCK8 gene in human lung cancer. (PubMed id 16391785)^{1, 9} Takahashi K....Yokota J. (2006)
Pure distal 9p deletion in a female infant with cerebr al palsy. (PubMed id 22876580)¹ Chen C.P....Wang W. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 81704	HGNC: 19191	AceView: DOCK8	Ensembl:ENSG00000107099	euGenes: HUgn81704
ECgene: DOCK8	H-InvDB: DOCK8

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DOCK8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DOCK8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DOCK8 gene:
Search GeneIP for patents involving DOCK8

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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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dedicator of cytokinesis 8

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dedicator of cytokinesis 8

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