APPL2

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

APPL2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAPPL2, DIP13B, adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
External IDsOMIM: 606231 MGI: 2384914 HomoloGene: 10046 GeneCards: APPL2
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: 83.44 – 83.48 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000136044 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000020263 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. 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. S2CID 85911512.
  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. S2CID 18872015.
  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
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