PLEKHM2

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PLEKHM2
Protein PLEKHM2 PDB 3CXB.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PLEKHM2, SKIP, pleckstrin homology and RUN domain containing M2
External IDs MGI: 1916832 HomoloGene: 19575 GeneCards: PLEKHM2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015164

NM_001033150
NM_001347237

RefSeq (protein)

NP_055979

NP_001028322.1
NP_001028322
NP_001334166

Location (UCSC) Chr 1: 15.68 – 15.73 Mb Chr 4: 141.63 – 141.66 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Pleckstrin homology domain-containing family M member 2 is a protein that in humans is encoded by the PLEKHM2 gene.[3]

Model organisms[edit]

Model organisms have been used in the study of PLEKHM2 function. A conditional knockout mouse line, called Plekhm2tm1a(EUCOMM)Wtsi[10][11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty six tests were carried out on mutant mice and three significant abnormalities were observed.[8] Male homozygous mutants had increased circulating alkaline phosphatase levels and an increased susceptibility to bacterial infection, while females had an increased leukocyte cell number.[8]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: pleckstrin homology domain containing, family M (with RUN domain) member 2". Retrieved 2011-08-30. 
  4. ^ "Clinical chemistry data for Plekhm2". Wellcome Trust Sanger Institute. 
  5. ^ "Haematology data for Plekhm2". Wellcome Trust Sanger Institute. 
  6. ^ "Salmonella infection data for Plekhm2". Wellcome Trust Sanger Institute. 
  7. ^ "Citrobacter infection data for Plekhm2". Wellcome Trust Sanger Institute. 
  8. ^ a b c d 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. 
  9. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ^ "International Knockout Mouse Consortium". 
  11. ^ "Mouse Genome Informatics". 
  12. ^ 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 3572410Freely accessible. PMID 21677750. 
  13. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  14. ^ 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. 
  15. ^ 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 3218837Freely accessible. PMID 21722353. 

Further reading[edit]

  • 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.