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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... See more...
Aliases for ARFGEF2 Gene
Aliases for ARFGEF2 Gene
External Ids for ARFGEF2 Gene
- HGNC: 15853
- Entrez Gene: 10564
- Ensembl: ENSG00000124198
- OMIM: 605371
- UniProtKB: Q9Y6D5
Previous GeneCards Identifiers for ARFGEF2 Gene
- GC20P047266
- GC20P048176
- GC20P048223
- GC20P046971
- GC20P047538
- GC20P044289
Summaries 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, Autosomal Recessive and Hydrocephalus. Among its related pathways are Chaperonin-mediated protein folding and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include binding and myosin binding. An important paralog of this gene is ARFGEF1.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for ARFGEF2 Gene
- HGNC(15853)
- Entrez Gene(10564)
- Ensembl(ENSG00000124198)
- OMIM(605371)
- UniProtKB(Q9Y6D5)
- Open Targets Platform(ENSG00000124198)
- Monarch Initiative
- Search for ARFGEF2 at DataMed
- Search for ARFGEF2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARFGEF2 Gene
Genomics for ARFGEF2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ARFGEF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ARFGEF2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARFGEF2
- Top Transcription factor binding sites by QIAGEN in the ARFGEF2 gene promoter:
-
- AP-1
- ATF-2
- ATF6
- c-Jun
- CUTL1
- E47
- Hand1
- Msx-1
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for ARFGEF2 Gene
Genomic Locations for ARFGEF2 Gene
- chr20:48,921,711-49,036,693
- (GRCh38/hg38)
- Size:
- 114,983 bases
- Orientation:
- Plus strand
- chr20:47,538,275-47,653,230
- (GRCh37/hg19)
- Size:
- 114,956 bases
- Orientation:
- Plus strand
Genomic View for ARFGEF2 Gene
Genes around ARFGEF2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.13 by HGNC
- 20q13.13 by Entrez Gene
- 20q13.13 by Ensembl
ARFGEF2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression 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:
Antibody Products
- G Biosciences Immunotag™ ARFGEF2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ARFGEF2
- Novus Biologicals Antibodies for ARFGEF2
-
Abcam antibodies for ARFGEF2
- Invitrogen Antibodies for ARFGEF2 (AFLGC-ARFGEF2)
-
Biorbyt antibodies for ARFGEF2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ARFGEF2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ARFGEF2
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- Novus Biologicals proteins for ARFGEF2
No data available for DME Specific Peptides for ARFGEF2 Gene
Domains & Families for ARFGEF2 Gene
Gene Families for ARFGEF2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for ARFGEF2 Gene
- InterPro:
- Blocks:
-
- HEAT repeat
- SEC7-like domain
- ProtoNet:
Suggested Antigen Peptide Sequences for ARFGEF2 Gene
- GenScript: Design optimal peptide antigens:
-
- Brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2_HUMAN)
- ARFGEF2 protein (Q86TH5_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARFGEF2 Gene
Function for ARFGEF2 Gene
Molecular function for ARFGEF2 Gene
- 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.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by brefeldin A.
Phenotypes From GWAS Catalog 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 |
Phenotypes for ARFGEF2 Gene
- MGI mutant phenotypes for ARFGEF2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ARFGEF2:
Animal Models for ARFGEF2 Gene
- MGI Knock Outs for ARFGEF2:
-
- Arfgef2 Arfgef2<tm1Itl>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ARFGEF2 - Select products 50% OFF >
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-
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miRNA for ARFGEF2 Gene
- miRTarBase miRNAs that target ARFGEF2
-
- hsa-miR-766-3p (MIRT039010)
- hsa-miR-484 (MIRT042348)
- hsa-miR-20a-5p (MIRT050608)
- hsa-miR-32-5p (MIRT154075)
- hsa-miR-92a-3p (MIRT154076)
- hsa-miR-92b-3p (MIRT154087)
- hsa-miR-335-3p (MIRT154127)
- hsa-miR-539-5p (MIRT441206)
- hsa-miR-664b-3p (MIRT640168)
- hsa-miR-579-3p (MIRT640169)
- hsa-miR-5696 (MIRT640170)
- hsa-miR-329-5p (MIRT640171)
- hsa-miR-552-3p (MIRT640172)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for ARFGEF2 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for ARFGEF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARFGEF2
Cell Line Products
-
Horizon Cell Lines for ARFGEF2
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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| endosome | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| nucleus | 3 |
| plasma membrane | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| peroxisome | 0 |
- Golgi apparatus (3)
| 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 | -- |
Pathways & Interactions for ARFGEF2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chaperonin-mediated protein folding |
.94
|
|
| 2 | Endocytosis | ||
| 3 | Metabolism of proteins | ||
Pathways by source for ARFGEF2 Gene
4 Reactome pathways for ARFGEF2 Gene
1 KEGG pathway for ARFGEF2 Gene
Interacting Proteins for ARFGEF2 Gene
Selected Interacting proteins:
Q9Y6D5-BIG2_HUMAN
ENSP00000360985
for ARFGEF2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ARFGEF2
| 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 |
No data available for SIGNOR curated interactions for ARFGEF2 Gene
Drugs & Compounds for ARFGEF2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine triphosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for ARFGEF2 Gene
mRNA/cDNA for ARFGEF2 Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000371917 9031 nts (view in UCSC)
- ENST00000493140 245 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ARFGEF2 - Select products 50% OFF >
- * ARFGEF2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ARFGEF2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARFGEF2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARFGEF2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ARFGEF2
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Clone Products
- Applied Biological Materials (abm): Clones for ARFGEF2 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for ARFGEF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARFGEF2
Relevant External Links for ARFGEF2 Gene
- GeneLoc Exon Structure for
- ARFGEF2
Expression for ARFGEF2 Gene
This gene is overexpressed in Bone (33.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARFGEF2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARFGEF2
SOURCE GeneReport for Unigene cluster for ARFGEF2 Gene:
Hs.62578mRNA Expression by UniProt/SwissProt for ARFGEF2 Gene:
Q9Y6D5-BIG2_HUMAN
Tissue specificity:
Expressed in placenta, lung, heart, brain, kidney and pancreas.
Evidence on tissue expression from TISSUES for ARFGEF2 Gene
- Nervous system(4.6)
- Liver(4.4)
- Adrenal gland(2.6)
- Gall bladder(2.1)
- Intestine(2.1)
- Pancreas(2.1)
- Stomach(2.1)
- Thyroid gland(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ARFGEF2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- head
- skull
Thorax:
- aorta
- heart
- heart valve
Limb:
- lower limb
- upper limb
General:
- blood
- blood vessel
- coagulation system
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for ARFGEF2
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ARFGEF2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ARFGEF2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ARFGEF2 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ARFGEF2 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ARFGEF2 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Arfgef2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Arfgef2 30 |
|
||
| Chicken (Gallus gallus) |
Aves | ARFGEF2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ARFGEF2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | arfgef2 30 |
|
||
| Str.2698 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.30672 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | arfgef2 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4267 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | sec71 31 |
|
OneToMany | |
| BG:DS00797.7 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | agef-1 31 |
|
ManyToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SEC7 31 33 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G38200 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | sec71 30 |
|
- Species where no ortholog for ARFGEF2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ARFGEF2: view image
Paralogs for ARFGEF2 Gene
Paralogs for ARFGEF2 Gene
(7) SIMAP similar genes for ARFGEF2 Gene using alignment to 3 proteins:
- BIG2_HUMAN
- L8E9E5_HUMAN
- Q86TH5_HUMAN
Variants for ARFGEF2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARFGEF2 Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 667986 | Benign: not provided | 48,921,560(+) | A/G | ||
| 667987 | Benign: not provided | 48,964,162(+) | T/A | INTRON_VARIANT | |
| 667988 | Benign: not provided | 48,965,588(+) | T/C | INTRON_VARIANT | |
| 667989 | Benign: not provided | 48,971,620(+) | G/C | INTRON_VARIANT | |
| 667990 | Benign: not provided | 49,009,948(+) | G/C | INTRON_VARIANT |
| 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 |
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)
Additional Variant Information for ARFGEF2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARFGEF2 Gene
Disorders for ARFGEF2 Gene
(15) MalaCards diseases for ARFGEF2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| periventricular heterotopia with microcephaly, autosomal recessive |
|
|
| hydrocephalus |
|
|
| periventricular nodular heterotopia |
|
|
| visual epilepsy |
|
|
| microcephaly |
|
Search ARFGEF2 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for ARFGEF2
No data available for Genatlas for ARFGEF2 Gene
Publications for ARFGEF2 Gene
- Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors. (PMID: 10212200) Togawa A … Vaughan M (The Journal of biological chemistry 1999) 2 3 4 23
- Interaction of phosphodiesterase 3A with brefeldin A-inhibited guanine nucleotide-exchange proteins BIG1 and BIG2 and effect on ARF1 activity. (PMID: 19332778) Puxeddu E … Vaughan M (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 23
- 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 SJ (The Journal of biological chemistry 2008) 3 4 23
- 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 (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 23
- The brefeldin A-inhibited guanine nucleotide-exchange protein, BIG2, regulates the constitutive release of TNFR1 exosome-like vesicles. (PMID: 17276987) Islam A … Levine SJ (The Journal of biological chemistry 2007) 3 4 23
ExternalLinks
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- Novus Biologicals proteins for ARFGEF2
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- Invitrogen Antibodies for ARFGEF2 (AFLGC-ARFGEF2)
- VectorBuilder Custom and pre-made DNA vectors for ARFGEF2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ARFGEF2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ARFGEF2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ARFGEF2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ARFGEF2
- antibodies-online: Show 7 available ARFGEF2 Antibodies ranked by validation data
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- antibodies-online: Search results for available ARFGEF2 related products ranked by validation data
- antibodies-online: Search results for available ARFGEF2 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for ARFGEF2
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- Santa Cruz Biotechnology (SCBT) CRISPR for ARFGEF2
- Horizon Cell Lines for ARFGEF2
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARFGEF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARFGEF2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ARFGEF2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARFGEF2
- Biorbyt antibodies for ARFGEF2
Sources for ARFGEF2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
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- (13) UniProtKB/TrEMBL
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- (15) ProtoNet
- (16) Blocks
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- (18) IUBMB
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- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
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- (44) Atlas
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
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- (98) ProteomicsDB
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- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB