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Aliases for ARFGEF2 Gene

Aliases for ARFGEF2 Gene

  • ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 2 (Brefeldin A-Inhibited) 2 3
  • BIG2 3 4 6
  • Brefeldin A-Inhibited Guanine Nucleotide-Exchange Protein 2 2 3
  • Brefeldin A-Inhibited GEP 2 3 4
  • PVNH2 3 6
  • ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 2 4
  • DJ1164I10.1 3
  • ARFGEP2 4

External Ids for ARFGEF2 Gene

Previous GeneCards Identifiers for ARFGEF2 Gene

  • GC20P047266
  • GC20P048176
  • GC20P048223
  • GC20P046971
  • GC20P047538
  • GC20P044289

Summaries for ARFGEF2 Gene

Entrez Gene Summary for ARFGEF2 Gene

  • ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARFGEF2 Gene

ARFGEF2 (ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 2 (Brefeldin A-Inhibited)) is a Protein Coding gene. Diseases associated with ARFGEF2 include periventricular heterotopia with microcephaly and x-linked periventricular heterotopia. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Protein folding. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is ENSG00000268465.

UniProtKB/Swiss-Prot for ARFGEF2 Gene

  • 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.

Gene Wiki entry for ARFGEF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARFGEF2 Gene

Genomics for ARFGEF2 Gene

Regulatory Elements for ARFGEF2 Gene

Genomic Location for ARFGEF2 Gene

Start:
48,921,713 bp from pter
End:
49,036,693 bp from pter
Size:
114,981 bases
Orientation:
Plus strand

Genomic View for ARFGEF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARFGEF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARFGEF2 Gene

Proteins for ARFGEF2 Gene

  • Protein details for ARFGEF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6D5-BIG2_HUMAN
    Recommended name:
    Brefeldin A-inhibited guanine nucleotide-exchange protein 2
    Protein Accession:
    Q9Y6D5
    Secondary Accessions:
    • Q5TFT9
    • Q9NTS1

    Protein attributes for ARFGEF2 Gene

    Size:
    1785 amino acids
    Molecular mass:
    202038 Da
    Quaternary structure:
    • Homodimer (Probable). Interacts with BIG1; both proteins are probably part of the same or very similar macromolecular complexes. Interacts with PRKAR1A, PRKAR2A, PRKAR1B, PRKAR2B, PPP1CC, PDE3A, TNFRSF1A, MYCBP and EXOC7. Interacts with GABRB1, GABRB2 and GABRB3 (By similarity).

    Three dimensional structures from OCA and Proteopedia for ARFGEF2 Gene

neXtProt entry for ARFGEF2 Gene

Proteomics data for ARFGEF2 Gene at MOPED

Post-translational modifications for ARFGEF2 Gene

  • In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1.
  • Ubiquitination at Lys1171
  • Modification sites at PhosphoSitePlus

Other Protein References for ARFGEF2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ARFGEF2 Gene

Domains for ARFGEF2 Gene

Gene Families for ARFGEF2 Gene

HGNC:
  • AKAP :A-kinase anchor proteins

Protein Domains for ARFGEF2 Gene

Suggested Antigen Peptide Sequences for ARFGEF2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6D5

UniProtKB/Swiss-Prot:

BIG2_HUMAN :
  • Q9Y6D5
Domain:
  • Contains 1 SEC7 domain.
genes like me logo Genes that share domains with ARFGEF2: view

Function for ARFGEF2 Gene

Molecular function for ARFGEF2 Gene

UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by brefeldin A
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for ARFGEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA 10212200
GO:0005086 ARF guanyl-nucleotide exchange factor activity IDA 15385626
GO:0005488 binding --
GO:0005515 protein binding IPI 10716990
GO:0017022 myosin binding IEA --
genes like me logo Genes that share ontologies with ARFGEF2: view
genes like me logo Genes that share phenotypes with ARFGEF2: view

Animal Models for ARFGEF2 Gene

MGI Knock Outs for ARFGEF2:

Animal Model Products

CRISPR Products

miRNA for ARFGEF2 Gene

miRTarBase miRNAs that target ARFGEF2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARFGEF2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ARFGEF2 Gene

Localization for ARFGEF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARFGEF2 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARFGEF2 Gene COMPARTMENTS Subcellular localization image for ARFGEF2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endosome 5
golgi apparatus 5
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ARFGEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 10716990
GO:0005737 cytoplasm --
GO:0005802 trans-Golgi network ISS --
GO:0005815 microtubule organizing center IDA 15705715
GO:0005829 cytosol IDA 12571360
genes like me logo Genes that share ontologies with ARFGEF2: view

Pathways for ARFGEF2 Gene

genes like me logo Genes that share pathways with ARFGEF2: view

Gene Ontology (GO) - Biological Process for ARFGEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001881 receptor recycling IDA 16477018
GO:0006887 exocytosis IEA --
GO:0006893 Golgi to plasma membrane transport IMP 17276987
GO:0007032 endosome organization IMP 20360857
GO:0010256 endomembrane system organization IMP 20360857
genes like me logo Genes that share ontologies with ARFGEF2: view

Compounds for ARFGEF2 Gene

(1) HMDB Compounds for ARFGEF2 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(5) Novoseek inferred chemical compound relationships for ARFGEF2 Gene

Compound -log(P) Hits PubMed IDs
gdp 73.2 4
gtp 63.8 4
nocodazole 52.1 1
guanine 33.7 4
gaba 18.5 8
genes like me logo Genes that share compounds with ARFGEF2: view

Transcripts for ARFGEF2 Gene

mRNA/cDNA for ARFGEF2 Gene

Unigene Clusters for ARFGEF2 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARFGEF2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ARFGEF2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARFGEF2 Gene

No ASD Table

Relevant External Links for ARFGEF2 Gene

GeneLoc Exon Structure for
ARFGEF2
ECgene alternative splicing isoforms for
ARFGEF2

Expression for ARFGEF2 Gene

mRNA expression in normal human tissues for ARFGEF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARFGEF2 Gene

SOURCE GeneReport for Unigene cluster for ARFGEF2 Gene Hs.62578

mRNA Expression by UniProt/SwissProt for ARFGEF2 Gene

Q9Y6D5-BIG2_HUMAN
Tissue specificity: Expressed in placenta, lung, heart, brain, kidney and pancreas
genes like me logo Genes that share expressions with ARFGEF2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ARFGEF2 Gene

Orthologs for ARFGEF2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ARFGEF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARFGEF2 35
  • 99.44 (n)
  • 99.61 (a)
ARFGEF2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARFGEF2 35
  • 91.06 (n)
  • 96.91 (a)
ARFGEF2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARFGEF2 35
  • 92.66 (n)
  • 97.7 (a)
ARFGEF2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arfgef2 35
  • 88.8 (n)
  • 95.74 (a)
Arfgef2 16
Arfgef2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARFGEF2 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARFGEF2 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arfgef2 35
  • 88.38 (n)
  • 95.4 (a)
chicken
(Gallus gallus)
Aves ARFGEF2 35
  • 78.85 (n)
  • 87.69 (a)
ARFGEF2 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARFGEF2 36
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.30672 35
tropical clawed frog
(Silurana tropicalis)
Amphibia arfgef2 35
  • 75.88 (n)
  • 82.84 (a)
Str.2698 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4267 35
zebrafish
(Danio rerio)
Actinopterygii arfgef2 35
  • 72.46 (n)
  • 80.52 (a)
arfgef2 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sec71 36
  • 64 (a)
OneToMany
BG:DS00797.7 37
  • 59 (a)
worm
(Caenorhabditis elegans)
Secernentea agef-1 36
  • 46 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC7 36
  • 27 (a)
OneToMany
SEC7 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G38200 35
  • 48.08 (n)
  • 39.18 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec71 35
  • 47.92 (n)
  • 37.7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
ManyToMany
-- 36
  • 83 (a)
ManyToMany
Species with no ortholog for ARFGEF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARFGEF2 Gene

ENSEMBL:
Gene Tree for ARFGEF2 (if available)
TreeFam:
Gene Tree for ARFGEF2 (if available)

Paralogs for ARFGEF2 Gene

Selected SIMAP similar genes for ARFGEF2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ARFGEF2: view

Variants for ARFGEF2 Gene

Sequence variations from dbSNP and Humsavar for ARFGEF2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs15674 -- 49,035,885(-) GGAAA(A/T)GATAT utr-variant-3-prime
rs707533 -- 49,035,717(+) ATTAT(A/G)TGTGC utr-variant-3-prime
rs707534 -- 49,035,801(+) TAGGG(A/G)AATCA utr-variant-3-prime
rs730543 -- 49,019,178(+) TCCAT(A/G)TGCAG intron-variant
rs730544 -- 49,019,281(+) ACATT(C/G)ACATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARFGEF2 Gene

Variant ID Type Subtype PubMed ID
esv2616333 CNV Insertion 19546169
nsv3411 CNV Insertion 18451855

Relevant External Links for ARFGEF2 Gene

HapMap Linkage Disequilibrium report
ARFGEF2
Human Gene Mutation Database (HGMD)
ARFGEF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARFGEF2 Gene

Disorders for ARFGEF2 Gene

(1) OMIM Diseases for ARFGEF2 Gene (605371)

UniProtKB/Swiss-Prot

BIG2_HUMAN
  • 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:0000269 PubMed:14647276}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for ARFGEF2 Gene

(2) Novoseek inferred disease relationships for ARFGEF2 Gene

Disease -log(P) Hits PubMed IDs
periventricular nodular heterotopia 92.1 4
microcephaly 65.7 4
genes like me logo Genes that share disorders with ARFGEF2: view

Publications for ARFGEF2 Gene

  1. Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors. (PMID: 10212200) Togawa A. … Vaughan M. (J. Biol. Chem. 1999) 2 3 4 23
  2. Protein kinase A-anchoring (AKAP) domains in brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2). (PMID: 12571360) Li H. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 23
  3. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. (PMID: 14647276) Sheen V.L. … Walsh C.A. (Nat. Genet. 2004) 3 4 23
  4. Interaction of BIG2, a brefeldin A-inhibited guanine nucleotide- exchange protein, with exocyst protein Exo70. (PMID: 15705715) Xu K.F. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 23
  5. Association of brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2) with recycling endosomes during transferrin uptake. (PMID: 16477018) Shen X. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 23

Products for ARFGEF2 Gene

Sources for ARFGEF2 Gene

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