InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ARFGEF2

Summary

InnateDB Protein

IDBP-80061.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ARFGEF2

Protein Name

ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)

Synonyms

BIG2; dJ1164I10.1; PVNH2;

Species

Homo sapiens

Ensembl Protein

ENSP00000360985

InnateDB Gene

IDBG-80059 (ARFGEF2)

Protein Structure

UniProt Annotation

Function

Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extend on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma membrane. Probably is involved in the exit of GABA(A) receptors from the endoplasmic reticulum. Involved in constitutive release of tumor necrosis factor receptor 1 via exosome-like vesicles; the function seems to involve PKA and specifically PRKAR2B. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. {ECO:0000269PubMed:12051703, ECO:0000269PubMed:12571360, ECO:0000269PubMed:15385626, ECO:0000269PubMed:16477018, ECO:0000269PubMed:17276987, ECO:0000269PubMed:18625701, ECO:0000269PubMed:20360857}.

Subcellular Localization

Cytoplasm. Membrane. Golgi apparatus. Cytoplasm, perinuclear region. Golgi apparatus, trans-Golgi network {ECO:0000250}. Endosome {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, dendrite {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Translocates from cytoplasm to membranes upon cAMP treatment. Localized in recycling endosomes.

Disease Associations

Periventricular nodular heterotopia 2 (PVNH2) [MIM:608097]: A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2. {ECO:0000269PubMed:14647276}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in placenta, lung, heart, brain, kidney and pancreas.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	29 [view]
Protein-Protein	28 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005085	guanyl-nucleotide exchange factor activity
GO:0005086	ARF guanyl-nucleotide exchange factor activity
GO:0005488	binding
GO:0005515	protein binding
GO:0017022	myosin binding
GO:0034237	protein kinase A regulatory subunit binding
GO:0050811	GABA receptor binding

Biological Process

GO:0001881	receptor recycling
GO:0006887	exocytosis
GO:0006893	Golgi to plasma membrane transport
GO:0007032	endosome organization
GO:0010256	endomembrane system organization
GO:0015031	protein transport
GO:0016192	vesicle-mediated transport
GO:0032012	regulation of ARF protein signal transduction
GO:0032760	positive regulation of tumor necrosis factor production
GO:0035556	intracellular signal transduction
GO:0043547	positive regulation of GTPase activity

Cellular Component

GO:0000139	Golgi membrane
GO:0005737	cytoplasm
GO:0005802	trans-Golgi network
GO:0005815	microtubule organizing center
GO:0005829	cytosol
GO:0005879	axonemal microtubule
GO:0016020	membrane
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0030054	cell junction
GO:0031410	cytoplasmic vesicle
GO:0032279	asymmetric synapse
GO:0032280	symmetric synapse
GO:0043197	dendritic spine
GO:0048471	perinuclear region of cytoplasm
GO:0055037	recycling endosome