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Aliases for ARFGEF2 Gene

Aliases for ARFGEF2 Gene

  • ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2 2 3 5
  • ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 2 (Brefeldin A-Inhibited) 2 3
  • Brefeldin A-Inhibited GEP 2 3 4
  • BIG2 3 4
  • ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 2 4
  • Brefeldin A-Inhibited Guanine Nucleotide-Exchange Protein 2 2
  • DJ1164I10.1 3
  • ARFGEP2 4
  • PVNH2 3

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) is a Protein Coding gene. Diseases associated with ARFGEF2 include Periventricular Heterotopia With Microcephaly and Periventricular Nodular Heterotopia. Among its related pathways are Chaperonin-mediated protein folding and Endocytosis. GO annotations related to this gene include binding and myosin binding. 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

Enhancers for ARFGEF2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ARFGEF2 on UCSC Golden Path with GeneCards custom track

Promoters for ARFGEF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARFGEF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ARFGEF2 Gene

Chromosome:
20
Start:
48,921,721 bp from pter
End:
49,036,693 bp from pter
Size:
114,973 bases
Orientation:
Plus strand

Genomic View for ARFGEF2 Gene

Genes around ARFGEF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARFGEF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARFGEF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ARFGEF2 Gene

Domains & Families for ARFGEF2 Gene

Gene Families for ARFGEF2 Gene

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 :
  • Contains 1 SEC7 domain.
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:0005086 ARF guanyl-nucleotide exchange factor activity IEA,IDA 15385626
genes like me logo Genes that share ontologies with ARFGEF2: view
genes like me logo Genes that share phenotypes with ARFGEF2: view

Human Phenotype Ontology for ARFGEF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARFGEF2 Gene

MGI Knock Outs for ARFGEF2:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for ARFGEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA 12571360
GO:0016023 cytoplasmic, membrane-bounded vesicle IEA --
GO:0030054 cell junction IEA --
GO:0032279 asymmetric synapse IEA,ISS --
GO:0055037 recycling endosome IDA 15385626
genes like me logo Genes that share ontologies with ARFGEF2: view

Pathways & Interactions for ARFGEF2 Gene

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

Pathways by source for ARFGEF2 Gene

Gene Ontology (GO) - Biological Process for ARFGEF2 Gene

None

No data available for SIGNOR curated interactions for ARFGEF2 Gene

Drugs & Compounds for ARFGEF2 Gene

(3) Drugs for ARFGEF2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for ARFGEF2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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

Protein differential expression in normal tissues from HIPED for ARFGEF2 Gene

This gene is overexpressed in Bone (33.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ARFGEF2: view

Protein tissue co-expression partners for ARFGEF2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
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
chimpanzee
(Pan troglodytes)
Mammalia ARFGEF2 35
  • 99.44 (n)
  • 99.61 (a)
ARFGEF2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arfgef2 35
  • 88.38 (n)
  • 95.4 (a)
oppossum
(Monodelphis domestica)
Mammalia ARFGEF2 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARFGEF2 36
  • 91 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia arfgef2 35
  • 75.88 (n)
  • 82.84 (a)
Str.2698 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.30672 35
zebrafish
(Danio rerio)
Actinopterygii arfgef2 35
  • 72.46 (n)
  • 80.52 (a)
arfgef2 36
  • 76 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4267 35
fruit fly
(Drosophila melanogaster)
Insecta BG:DS00797.7 37
  • 59 (a)
sec71 36
  • 64 (a)
OneToMany
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

(7) 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
rs6063343 - 48,973,199(+) TGCTG(C/T)TAACA reference, missense
VAR_036156 A breast cancer sample
rs28937880 Periventricular nodular heterotopia 2 (PVNH2) 48,953,577(+) AACTG(A/G)AAAAA reference, missense
VAR_069404 -
rs15674 -- 49,035,885(-) GGAAA(A/T)GATAT utr-variant-3-prime

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

Variation tolerance for ARFGEF2 Gene

Residual Variation Intolerance Score: 1.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARFGEF2 Gene

Human Gene Mutation Database (HGMD)
ARFGEF2

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

Disorders for ARFGEF2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ARFGEF2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
periventricular heterotopia with microcephaly
  • periventricular heterotopia, autosomal recessive
periventricular nodular heterotopia
  • paroxysmal nocturnal hemoglobinuria
neuronal migration disorders
  • malformations of cortical development, group ii
pseudobulbar palsy
  • pseudobulbar paralysis
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for ARFGEF2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARFGEF2
genes like me logo Genes that share disorders with ARFGEF2: view

No data available for Genatlas for ARFGEF2 Gene

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 67
  2. Redundant roles of BIG2 and BIG1, guanine-nucleotide exchange factors for ADP-ribosylation factors in membrane traffic between the trans-Golgi network and endosomes. (PMID: 18417613) Ishizaki R. … Nakayama K. (Mol. Biol. Cell 2008) 3 23
  3. cAMP-dependent protein kinase A (PKA) signaling induces TNFR1 exosome-like vesicle release via anchoring of PKA regulatory subunit RIIbeta to BIG2. (PMID: 18625701) Islam A. … Levine S.J. (J. Biol. Chem. 2008) 3 23
  4. The brefeldin A-inhibited guanine nucleotide-exchange protein, BIG2, regulates the constitutive release of TNFR1 exosome-like vesicles. (PMID: 17276987) Islam A. … Levine S.J. (J. Biol. Chem. 2007) 3 23
  5. Regulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) and BIG2 activity via PKA and protein phosphatase 1gamma. (PMID: 17360629) Kuroda F. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 23

Products for ARFGEF2 Gene

Sources for ARFGEF2 Gene

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