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FLASH GENE

Symbol

DOCK6

contributors: mct - updated : 06-09-2012

HGNC name	dedicator of cytokinesis 6
HGNC id	19189

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AOS2 Adams-Oliver syndrome 2
Location	19p13.2      Physical location : 11.309.972 - 11.373.157
Synonym symbol(s)	KIAA1395, AOS2, ZIR1

DNA

TYPE	functioning gene
STRUCTURE	63.20 kb     48 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020812 48 - 6400 NP_065863 - 2047 - 2002 12432077

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen       lowly Nervous brain           brain hindbrain cerebellum   lowly   brain diencephalon hypothalamus   lowly Urinary kidney

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a PH domain
	a DHR1 domain,
	a catalytic Dock Homology Region-2 (DHR-2) domain promoting neurite outgrowth mediated by RAC1 and CDC42 (MIM:614194)

HOMOLOGY

Homologene

FAMILY

Dock-C subfamily

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
text	perinuclear

basic FUNCTION	potential guanine nucleotide exchange factor (GEF)
	differs from all of the identified Dock180-related proteins, in that it is the GEF specific for both RAC1 and CDC42 and may be one of physiological regulators of neurite outgrowth
	atypical guanidine exchange factor (GEF) known to activate two members of the Rho GTPase family: CDC42 and RAC1

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP binding

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AOS2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS