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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 Guanine Nucleotide-Exchange Protein 2 2 3
  • Brefeldin A-Inhibited GEP 2 3 4
  • BIG2 3 4
  • ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 2 4
  • 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 Heterotopia, Periventricular. Among its related pathways are Chaperonin-mediated protein folding and Metabolism of proteins. GO annotations related to this gene include binding and myosin binding. An important paralog of this gene is ARFGEF1.

UniProtKB/Swiss-Prot for ARFGEF2 Gene

  • Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F048982 0.2 ENCODE 20.7 +62.7 62662 3.7 HDAC1 PKNOX1 RAD21 CHAMP1 RARA ZNF121 ZNF766 ETV6 CEBPB KAT8 CSE1L ARFGEF2 PIR36218 GC20P048970 GC20M049036
GH20F049054 0.2 ENCODE 20 +132.9 132889 1.1 ARID1B PKNOX1 MTA2 POLR2A HLF NBN JUNB REST ARFGEF2 STAU1 CSE1L GC20P049089
GH20F048919 0.6 ENCODE 19 +0.8 775 5.7 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ZNF143 CSE1L ARFGEF2 ENSG00000199490 LINC01523 ENSG00000228503 ENSG00000234967 PREX1 SLC9A8 SNORD12B ZFAS1
GH20F049045 0.2 ENCODE 18.2 +125.1 125137 3.0 HDGF PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CSE1L ARFGEF2 SNORD12B ZFAS1 SNORD12 GC20P049089
GH20F049184 1.2 FANTOM5 Ensembl ENCODE 17.8 +264.7 264742 4.9 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A YBX1 ARFGEF2 PTGIS DDX27 CSE1L SNORD12B ZFAS1 PREX1 STAU1 PIR47119
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000402254 79 2401 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ZNF143
ENSR00001838101 1579 201 TBP MLX ARID4B DMAP1 ZSCAN9 RARA SLC30A9 CREM MIXL1 THAP11

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 ARFGEF1/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

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

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 extent 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:0005515 protein binding IPI 10716990
GO:0017022 myosin binding IEA --
GO:0034237 protein kinase A regulatory subunit binding IDA 12571360
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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:0000139 Golgi membrane IDA 10716990
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IEA,ISS --
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0001881 receptor recycling IDA 16477018
GO:0006810 transport IEA --
GO:0006887 exocytosis IEA,TAS --
GO:0006893 Golgi to plasma membrane transport IMP 17276987
GO:0007032 endosome organization IMP 20360857
genes like me logo Genes that share ontologies with ARFGEF2: view

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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ARFGEF2 Gene



Protein tissue co-expression partners for ARFGEF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARFGEF2 Gene:

ARFGEF2

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

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
chimpanzee
(Pan troglodytes)
Mammalia ARFGEF2 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia ARFGEF2 34 35
  • 92.66 (n)
oppossum
(Monodelphis domestica)
Mammalia ARFGEF2 35
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARFGEF2 34 35
  • 91.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARFGEF2 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arfgef2 34 16 35
  • 88.8 (n)
rat
(Rattus norvegicus)
Mammalia Arfgef2 34
  • 88.38 (n)
chicken
(Gallus gallus)
Aves ARFGEF2 34 35
  • 78.85 (n)
lizard
(Anolis carolinensis)
Reptilia ARFGEF2 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arfgef2 34
  • 75.88 (n)
Str.2698 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.30672 34
zebrafish
(Danio rerio)
Actinopterygii arfgef2 34 35
  • 72.46 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4267 34
fruit fly
(Drosophila melanogaster)
Insecta sec71 35
  • 64 (a)
OneToMany
BG:DS00797.7 36
  • 59 (a)
worm
(Caenorhabditis elegans)
Secernentea agef-1 35
  • 46 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC7 35 37
  • 27 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G38200 34
  • 48.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 83 (a)
ManyToMany
-- 35
  • 52 (a)
ManyToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec71 34
  • 47.92 (n)
Species where no ortholog for ARFGEF2 was found in the sources mined by GeneCards:
  • 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
VAR_036156 A breast cancer sample
rs28937880 Pathogenic 48,953,577(+) AACTG(A/G)AAAAA reference, missense
rs398122523 Pathogenic 48,976,200(+) GAGCT(A/G)TGAGT splice-donor-variant
rs730882200 Likely pathogenic 48,953,608(+) TCCCC(-/C)TGTGA reference, frameshift-variant
rs147534008 Likely benign 48,973,263(+) CATGA(A/G)CTGGG reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
esv2616333 CNV insertion 19546169
esv3646006 CNV loss 21293372
esv3893345 CNV loss 25118596
nsv1066050 CNV gain 25217958
nsv1067146 CNV loss 25217958
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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARFGEF2

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

Disorders for ARFGEF2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
periventricular heterotopia with microcephaly
  • periventricular heterotopia, autosomal recessive
heterotopia, periventricular
  • heterotopia, periventricular, ehlers-danlos variant
pseudobulbar palsy
  • pseudobulbar paralysis
neuronal migration disorders
  • malformations of cortical development, group ii
west syndrome
  • epileptic encephalopathy, early infantile, 1
- 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, ECO:0000269 PubMed:23812912, ECO:0000269 PubMed:25160555}. 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 22 64
  2. 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 4 22 64
  3. 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 4 22 64
  4. 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 4 22 64
  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 22 64

Products for ARFGEF2 Gene

Sources for ARFGEF2 Gene

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