APPL2

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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
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for APPL2
Genomic location for APPL2
Band12q23.3Start105,173,297 bp[1]
End105,236,203 bp[1]
RNA expression pattern
PBB GE APPL2 218218 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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: 83.6 – 83.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Model organisms[edit]

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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136044 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b c 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.
  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.
  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[edit]

Further reading[edit]