APPL2

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Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols APPL2 ; DIP13B
External IDs OMIM606231 MGI2384914 HomoloGene10046 GeneCards: APPL2 Gene
RNA expression pattern
PBB GE APPL2 218218 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 55198 216190
Ensembl ENSG00000136044 ENSMUSG00000020263
UniProt Q8NEU8 Q8K3G9
RefSeq (mRNA) NM_001251904 NM_145220
RefSeq (protein) NP_001238833 NP_660255
Location (UCSC) Chr 12:
105.57 – 105.63 Mb
Chr 10:
83.6 – 83.65 Mb
PubMed search [1] [2]

DCC-interacting protein 13-beta is a protein that in humans is encoded by the APPL2 gene.[1][2][3]

Model organisms[edit]

Model organisms have been used in the study of APPL2 function. A conditional knockout mouse line, called Appl2tm1a(KOMP)Wtsi[8][9] 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 — at the Wellcome Trust Sanger Institute.[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty three tests were carried out on mutant mice, but no significant abnormalities were observed.[6]

References[edit]

  1. ^ Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O (Jul 2001). "Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome". Am J Hum Genet 69 (2): 261–8. doi:10.1086/321293. PMC 1235301. PMID 11431708. 
  2. ^ Nechamen CA, Thomas RM, Dias JA (Nov 2006). "APPL1, APPL2, Akt2 and FOXO1a Interact with FSHR in a Potential Signaling Complex". Mol Cell Endocrinol. 260-262: 93–9. doi:10.1016/j.mce.2006.08.014. PMC 1782224. PMID 17030088. 
  3. ^ "Entrez Gene: APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2". 
  4. ^ "Salmonella infection data for Appl2". Wellcome Trust Sanger Institute. 
  5. ^ "Citrobacter infection data for Appl2". Wellcome Trust Sanger Institute. 
  6. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. 
  7. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  8. ^ "International Knockout Mouse Consortium". 
  9. ^ "Mouse Genome Informatics". 
  10. ^ 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
  11. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  12. ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  13. ^ 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. 

Further reading[edit]