APPL2

APPL2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAPPL2, DIP13B, adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
External IDsMGI: 2384914 HomoloGene: 10046 GeneCards: APPL2
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12q23.3Start105,173,296 bp[1]
End105,236,238 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

55198

216190

Ensembl

ENSG00000136044

ENSMUSG00000020263

UniProt

Q8NEU8

Q8K3G9

RefSeq (mRNA)

NM_001251904
NM_001251905
NM_018171

NM_145220

RefSeq (protein)

NP_001238833
NP_001238834
NP_060641

NP_660255

Location (UCSC)Chr 12: 105.17 – 105.24 MbChr 10: 83.6 – 83.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

DCC-interacting protein 13-beta is a protein that in humans is encoded by the APPL2 gene.[5][6][7]

Model organisms

Model organisms have been used in the study of APPL2 function. A conditional knockout mouse line, called Appl2tm1a(KOMP)Wtsi[12][13] 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.[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty three tests were carried out on mutant mice, but no significant abnormalities were observed.[10]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000136044 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020263 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ "Entrez Gene: APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2".
  8. ↑ "Salmonella infection data for Appl2". Wellcome Trust Sanger Institute.
  9. ↑ "Citrobacter infection data for Appl2". Wellcome Trust Sanger Institute.
  10. 1 2 3 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.
  11. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  12. ↑ "International Knockout Mouse Consortium".
  13. ↑ "Mouse Genome Informatics".
  14. ↑ 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.
  15. ↑ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  16. ↑ 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.
  17. ↑ 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

  • Mao X, Kikani CK, Riojas RA, et al. (2006). "APPL1 binds to adiponectin receptors and mediates adiponectin signalling and function". Nat. Cell Biol. 8 (5): 516–23. doi:10.1038/ncb1404. PMID 16622416.
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Miaczynska M, Christoforidis S, Giner A, et al. (2004). "APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment". Cell. 116 (3): 445–56. doi:10.1016/S0092-8674(04)00117-5. PMID 15016378.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
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