APPL2

Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 4H8S​
Identifiers
Symbols	APPL2 ; DIP13B
External IDs	OMIM: 606231 MGI: 2384914 HomoloGene: 10046 GeneCards: APPL2 Gene
Gene ontology Molecular function • protein binding Cellular component • nucleus • cytoplasm • endosome membrane • NuRD complex • early endosome membrane • extracellular exosome Biological process • cell cycle • signal transduction • cell proliferation Sources: Amigo / QuickGO
RNA expression pattern
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: 105.17 – 105.24 Mb	Chr 10: 83.6 – 83.65 Mb
PubMed search

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

Model organisms

Appl2 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal[4]
Citrobacter infection	Normal[5]
All tests and analysis from[6][7]

Model organisms have been used in the study of APPL2 function. A conditional knockout mouse line, called Appl2^{tm1a(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

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. 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.
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

• 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.