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]
End	105,236,203 bp[1]
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)[2]
End	83,648,738 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• GO:0001948 protein binding; • phosphatidylserine binding; • phosphatidylinositol binding; • protein homodimerization activity; • GO:0032403 macromolecular complex binding;
Cellular component	• cytoplasm; • NuRD complex; • endosome; • early endosome membrane; • endosome membrane; • extracellular exosome; • membrane; • cell nucleus; • ruffle; • cell membrane; • cytoplasmic vesicle; • vesicle; • early phagosome; • ruffle membrane; • early phagosome membrane; • macropinosome; • phagocytic vesicle membrane; • cell projection; • phagocytic vesicle;
Biological process	• cell cycle; • cellular 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
	55198
	216190
	ENSG00000136044
	ENSMUSG00000020263
	Q8NEU8
	Q8K3G9
	NM_001251904; NM_001251905; NM_018171
	NM_145220
	NP_001238833; NP_001238834; NP_060641
	NP_660255
	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

GRCh38: Ensembl release 89: ENSG00000136044 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000020263 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"Entrez Gene: APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2".
"Salmonella infection data for Appl2". Wellcome Trust Sanger Institute.
"Citrobacter infection data for Appl2". Wellcome Trust Sanger Institute.
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.
Mouse Resources Portal, Wellcome Trust Sanger Institute.
"International Knockout Mouse Consortium".
"Mouse Genome Informatics".
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.
Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
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.
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.

APPL2

Model organisms

References

External links

Further reading