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FLASH GENE

Symbol

ARFGEF2

contributors: mct - updated : 09-04-2014

HGNC name	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
HGNC id	15853

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARPHM periventricular heterotopia with microcephaly
Location	20q13.13      Physical location : 47.538.274 - 47.653.229
Synonym name	brefeldin A-inhibited guanine nucleotide exchange protein 2, for ADP-ribosylation factor
	Brefeldin A-inhibited GEP2
Synonym symbol(s)	BIG2, dJ1164I10.1, PVNH2

DNA

TYPE	functioning gene
STRUCTURE	114.98 kb     39 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_006420 40 - 9004 NP_006411 - 1785 - 2005 15705715

EXPRESSION

Type

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 Cardiovascular heart         Digestive liver       highly Endocrine pancreas         Nervous brain           spinal cord       highly Reproductive male system prostate       Respiratory lung         Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal     Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

C-terminal motif within Sec7 domain of guanine nucleotide exchange factors regulates ADP-ribosylation factor (ARF) binding and activation

HOMOLOGY

interspecies

homolog to Drosophila CG7187

intraspecies

homolog to BIG1

Homologene

FAMILY

CATEGORY

regulatory , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic,vesicle
text	colocalizing with COPB1 in a perinuclear structure probably with Golgi membranes
	GBF1 acts at the cis-Golgi, whereas ARFGEF1 and its close paralog ARFGEF2 act at the trans-Golgi

basic FUNCTION	playing an important role in vesicular and membrane trafficking from the trans-golgi network
	involved in the activation of ARFs (ARF1, ARF5 and ARF6) by accelerating replacement of bound GDP with GTP
	activator of ADP-ribosylation factor GTPases that are essential for regulating vesicular traffic among intracellular organelles
	ARFGEF1, ARFGEF2 play redundant roles in trafficking between the TGN and endosomes that involves the AP-1 complex
	ARFGEF1 is required to maintain the normal morphology of the Golgi but ARFGEF2 is important for endosomal compartment integrity and cannot replace the function of ARFGEF1 in Golgi organization
	alone or in concert with recruited MYCBP coordinates ARF-mediated membrane trafficking and signaling pathways
	may coordinate actin cytoskeleton mechanics and membrane traffic in cell migration via ITGB1 action and actin functions
	involved in the activation of ARFs by accelerating replacement of bound guanosine diphosphate (GDP) with Guanosine triphosphate (GTP), and is involved in Golgi transport
	Arf guanine nucleotide-exchange factors ARFGEF1, ARFGEF2 and regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

exocytosis transport , cellular trafficking transport

text	Golgi transport

PATHWAY

metabolism

signaling

a component

component with BIG1 of a macromolecular complex

INTERACTION

DNA

RNA

small molecule

protein	interacting with EXOC7 in trans-golgi network and centrosome
	ARL1 is necessary for Golgi recruitment of ARFGEF1 and ARFGEF2 but not GBF1
	regulates filamin A phosphorylation and neuronal migration
	GBF1-activated ARFs (ARF4 and ARF5, but not ARF3) facilitate ARFGEF1 and ARFGEF2 recruitment to the trans-Golgi network (TGN)
	FLNA regulates neuronal migration through ARFGEF2-dependent ARF1 activation

cell & other

REGULATION

inhibited by

brefeldin A

ASSOCIATED DISORDERS

corresponding disease(s)

ARPHM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   significantly up-regulated in the Huntington disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS