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; OMA:APPL2 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12q23.3 Start 105,173,297 bp End 105,236,203 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10|10 C1 Start 83,435,897 bp End 83,484,602 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of leg skin of abdomen rectum mucosa of transverse colon ventricular zone Achilles tendon stromal cell of endometrium canal of the cervix ectocervix bronchial epithelial cell Top expressed in retinal pigment epithelium ciliary body iris cerebellar cortex neural layer of retina parotid gland lobe of cerebellum cerebellar vermis lacrimal gland epithelium of stomach More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding phosphatidylserine binding phosphatidylinositol binding protein homodimerization activity protein-containing complex binding Cellular component cytoplasm NuRD complex endosome early endosome membrane endosome membrane extracellular exosome membrane nucleus ruffle plasma membrane 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
Wikidata
View/Edit Human View/Edit Mouse

DCC-interacting protein 13-beta is a protein that in humans is encoded by the APPL2 gene.

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
Citrobacter infection	Normal
All tests and analysis from

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

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

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.
• 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.