Official Symbol: DOCK8provided by HGNC
Official Full Name: dedicator of cytokinesis 8provided by HGNC
Primary Source: HGNC:19191
Locus Tag: RP11-165F24.7
See related: Ensembl:ENSG00000107099; HPRD:10920; MIM:611432
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRD2; ZIR8; FLJ00026; FLJ00152; FLJ00346; DOCK8
Summary: DOCK8 is a member of the DOCK180-related (DOCK1; MIM 601403) protein family (Ruusala and Aspenstrom, 2004 [PubMed 15304341]).[supplied by OMIM]

[Top][Help]Genomic regions, transcripts, and products

(plus) Go to reference sequence details Try our new Sequence Viewer

[Top][Help]Genomic context

chromosome: 9; Location: 9p24.3See DOCK8 in MapViewer

[Top][Help]Bibliography

GeneRIFs: Gene References Into Function What's a GeneRIF?

	1.	rare mutations in the DOCK8 gene may contribute to some cases of autosomal dominant mental retardation
	2.	involvement of DOCK8 in processes that affect the organisation of filamentous actin.

Submit: New GeneRIF Correction

[Top][Help]Interactions

Description ..........
Product	Interactant	Other Gene	Complex	Source	Pubs

NP_982272.1	NP_001782.1	CDC42		HPRD	PubMed

NP_982272.1	NP_061485.1	RAC1		HPRD	PubMed

NP_982272.1	NP_065714.1	RHOJ		HPRD	PubMed

NP_982272.1	NP_036381.1	RHOQ		HPRD	PubMed
Two-hybrid
BioGRID:123577	BioGRID:107433	CDC42		BioGRID	PubMed
Two-hybrid
BioGRID:123577	BioGRID:111817	RAC1		BioGRID	PubMed

[Top][Help]General gene information

Markers

D9S913(e-PCR): Links: UniSTS:63059

STS-T92908(e-PCR): Links: UniSTS:35682

RH36905(e-PCR): Links: UniSTS:87932

MFD455-AAT(e-PCR): Links: UniSTS:498595

WI-17492(e-PCR): Links: UniSTS:65192

D9S917(e-PCR), detects polymorphism: Links: UniSTS:34736

RH80320(e-PCR): Links: UniSTS:88754

A008I30(e-PCR): Links: UniSTS:67792

A008P36(e-PCR): Links: UniSTS:82648

SHGC-18075(e-PCR): Links: UniSTS:74718

G29245(e-PCR): Links: UniSTS:68841

RH118948(e-PCR): Links: UniSTS:138233

Phenotypes

Mental retardation, autosomal dominant 2: MIM: 611432

Genotypes

See DOCK8 SNP Genotype Report

See DOCK8 SNP Geneview Report

Homology

Homologs of the DOCK8 gene The DOCK8 gene is conserved in chimpanzee, dog, mouse, rat, chicken, and zebrafish.

Map Viewer (Mouse, Rat)

Gene Ontology Provided by GOA

Function	Evidence
GTP binding	IEA
GTPase binding	IEA
guanyl-nucleotide exchange factor activity	IEA

[Top][Help]General protein information

Preferred Names: dedicator of cytokinesis 8

Names: dedicator of cytokinesis 8; 1200017A24Rik

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

mRNA and Protein(s)

NM_203447.3 → NP_982272.2 dedicator of cytokinesis 8

Source sequence(s)

AB191037,AK090429,CA503173,DR004867

Consensus CDS

CCDS6440.1

UniProtKB/Swiss-Prot

Q8NF50

Related Ensembl

ENSP00000287364, ENST00000287364

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

NC_000009.11

Range

273047..465254

Download

GenBank FASTA Sequence Viewer (Graphics)
NT_008413.18

Range

263047..455254

Download

GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

AC_000052.1

Range

187886..382248

Download

GenBank FASTA Sequence Viewer (Graphics)
NW_924062.1

Range

72405..266767

Download

GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

AC_000141.1

Range

226736..417076, complement

Download

GenBank FASTA Sequence Viewer (Graphics)
NW_001839149.2

Range

35451144..35641484, complement

Download

GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

Nucleotide		Protein
genomic	AL158832.13	CAM22535.1
		CAM22536.1
		CAM22537.1
genomic	AL158832.13	CAM22535.1
		CAM22536.1
		CAM22537.1
genomic	AL161725.13	CAM13232.1
		CAM13233.1
		CAM13234.1
genomic	CH471071.2	EAW58825.1
		EAW58826.1
		EAW58827.1
		EAW58828.1
		EAW58829.1
		EAW58830.1
mRNA	AB191037.1	BAE45254.1
mRNA	AF194407.1	AAG42221.1
mRNA	AK024436.1	BAB15726.1
mRNA	AK074081.1	BAB84907.1
mRNA	AK090429.1	BAC03410.1
mRNA	AK093572.1	BAC04199.1
mRNA	AK293353.1	BAG56869.1
mRNA	AK310555.1	None
mRNA	AL583913.1	CAC29497.1
mRNA	AY117695.1	None
mRNA	BC019102.2	AAH19102.2
mRNA	BC030518.1	None
mRNA	BC043265.2	None
mRNA	BC045629.1	AAH45629.1
mRNA	BC112894.1	AAI12895.1
mRNA	BC130518.1	AAI30519.1
mRNA	BC143929.1	AAI43930.1
mRNA	BG388288.1	None
mRNA	BU532484.1	None
mRNA	CA503173.1	None
mRNA	DR004867.1	None
mRNA	AL832270.1	CAI46160.1