ARHGEF4

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Rho guanine nucleotide exchange factor (GEF) 4
Protein ARHGEF4 PDB 2dx1.png
PDB rendering based on 2dx1.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ARHGEF4 ; ASEF; ASEF1; GEF4; STM6
External IDs OMIM605216 MGI2442507 HomoloGene49414 GeneCards: ARHGEF4 Gene
RNA expression pattern
PBB GE ARHGEF4 211891 s at tn.png
PBB GE ARHGEF4 205109 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 50649 226970
Ensembl ENSG00000136002 ENSMUSG00000037509
UniProt Q9NR80 Q7TNR9
RefSeq (mRNA) NM_015320 NM_183019
RefSeq (protein) NP_056135 NP_898840
Location (UCSC) Chr 2:
131.59 – 131.8 Mb
Chr 1:
34.68 – 34.81 Mb
PubMed search [1] [2]

Rho guanine nucleotide exchange factor 4 is a protein that in humans is encoded by the ARHGEF4 gene.[1][2]

Function[edit]

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. This protein is similar to rat collybistin protein. Alternative splicing of this gene generates two transcript variants that encode different isoforms. Also, there is possibility for the usage of multiple polyadenylation sites for this gene.[2]

Model organisms[edit]

Model organisms have been used in the study of ARHGEF4 function. A conditional knockout mouse line, called Arhgef4tm1a(KOMP)Wtsi[10][11] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty two tests were carried out on homozygous mutant mice and one significant abnormality was observed: males has atypical peripheral blood lymphocyte parameters, including a decreased B cell number and an increased granulocyte number.[8]

Interactions[edit]

ARHGEF4 has been shown to interact with APC.[16]

References[edit]

  1. ^ Thiesen S, Kubart S, Ropers HH, Nothwang HG (Jul 2000). "Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22". Biochem Biophys Res Commun 273 (1): 364–9. doi:10.1006/bbrc.2000.2925. PMID 10873612. 
  2. ^ a b "Entrez Gene: ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4". 
  3. ^ "Dysmorphology data for Arhgef4". Wellcome Trust Sanger Institute. 
  4. ^ "Haematology data for Arhgef4". Wellcome Trust Sanger Institute. 
  5. ^ "Peripheral blood lymphocytes data for Arhgef4". Wellcome Trust Sanger Institute. 
  6. ^ "Salmonella infection data for Arhgef4". Wellcome Trust Sanger Institute. 
  7. ^ "Citrobacter infection data for Arhgef4". Wellcome Trust Sanger Institute. 
  8. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  9. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ^ "International Knockout Mouse Consortium". 
  11. ^ "Mouse Genome Informatics". 
  12. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  13. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  14. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  15. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 
  16. ^ Kawasaki Y, Senda T, Ishidate T, Koyama R, Morishita T, Iwayama Y, Higuchi O, Akiyama T (2000). "Asef, a link between the tumor suppressor APC and G-protein signaling". Science 289 (5482): 1194–7. PMID 10947987. 


Further reading[edit]