APPL2

APPL2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4H8S, 5C5B
Identifiers
Aliases	APPL2 , DIP13B, adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
External IDs	OMIM: 606231 MGI: 2384914 HomoloGene: 10046 GeneCards: APPL2
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q23.3 Start 105,173,297 bp [1] End 105,236,203 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10|10 C1 Start 83,435,897 bp [2] End 83,484,602 bp [2]
RNA expression pattern Bgee Top expressed in corpus callosum colon kidney stomach Achilles tendon More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GO:0001948 protein binding phosphatidylserine binding phosphatidylinositol binding protein homodimerization activity GO:0032403 protein-containing complex binding Cellular component cytoplasm NuRD complex endosome early endosome membrane endosome membrane extracellular exosome membrane nucleus ruffle plasma membrane GO:0016023 cytoplasmic vesicle vesicle early phagosome ruffle membrane early phagosome membrane macropinosome phagocytic vesicle membrane cell projection phagocytic vesicle Biological process cell cycle cell population proliferation signal transduction diet induced thermogenesis transforming growth factor beta receptor signaling pathway cold acclimation regulation of fibroblast migration signaling adiponectin-activated signaling pathway regulation of toll-like receptor 4 signaling pathway cellular response to hepatocyte growth factor stimulus glucose homeostasis regulation of innate immune response negative regulation of fatty acid oxidation negative regulation of glucose import negative regulation of neurogenesis protein homotetramerization positive regulation of phagocytosis, engulfment positive regulation of cold-induced thermogenesis negative regulation of cytokine production involved in inflammatory response negative regulation of cellular response to insulin stimulus positive regulation of macropinocytosis positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis negative regulation of neural precursor cell proliferation protein import into nucleus Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
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 Mb	Chr 10: 83.44 – 83.48 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

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 [8]
Citrobacter infection	Normal [9]
All tests and analysis from [10] [11]

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

External links

• Human APPL2 genome location and APPL2 gene details page in the UCSC Genome Browser .

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. S2CID   21273764.
• 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. S2CID   4427026.
• 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. S2CID   18281503.
• 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.