PLEKHM2

Pleckstrin homology domain containing, family M (with RUN domain) member 2

Rendering based on PDB 3CXB.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PLEKHM2 ; SKIP
External IDs OMIM: 609613 HomoloGene: 19575 GeneCards: PLEKHM2 Gene
Orthologs
Species Human Mouse
Entrez 23207 69582
Ensembl ENSG00000116786 ENSMUSG00000028917
UniProt Q8IWE5 Q80TQ5
RefSeq (mRNA) NM_015164 NM_001033150
RefSeq (protein) NP_055979 NP_001028322
Location (UCSC) Chr 1:
15.68 – 15.73 Mb
Chr 4:
141.63 – 141.66 Mb
PubMed search

Pleckstrin homology domain-containing family M member 2 is a protein that in humans is encoded by the PLEKHM2 gene.[1]

Model organisms

Model organisms have been used in the study of PLEKHM2 function. A conditional knockout mouse line, called Plekhm2tm1a(EUCOMM)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.[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty six tests were carried out on mutant mice and three significant abnormalities were observed.[6] Male homozygous mutants had increased circulating alkaline phosphatase levels and an increased susceptibility to bacterial infection, while females had an increased leukocyte cell number.[6]

References

  1. "Entrez Gene: pleckstrin homology domain containing, family M (with RUN domain) member 2". Retrieved 2011-08-30.
  2. "Clinical chemistry data for Plekhm2". Wellcome Trust Sanger Institute.
  3. "Haematology data for Plekhm2". Wellcome Trust Sanger Institute.
  4. "Salmonella infection data for Plekhm2". Wellcome Trust Sanger Institute.
  5. "Citrobacter infection data for Plekhm2". Wellcome Trust Sanger Institute.
  6. 1 2 3 4 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. 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 WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  11. Dolgin E (Jun 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 (Jan 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 Biology 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

  • Boucrot E, Henry T, Borg JP, Gorvel JP, Méresse S (May 2005). "The intracellular fate of Salmonella depends on the recruitment of kinesin". Science 308 (5725): 1174–8. doi:10.1126/science.1110225. PMID 15905402. 
  • Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Dec 1998). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID 10048485. 
  • Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070. 
This article is issued from Wikipedia - version of the Friday, August 28, 2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.