PLEKHM2
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| Pleckstrin homology domain containing, family M (with RUN domain) member 2 | |||||||||||||
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 Rendering based on PDB 3CXB. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | PLEKHM2; RP11-169K16.1; SKIP | ||||||||||||
| External IDs | OMIM: 609613 HomoloGene: 19575 GeneCards: PLEKHM2 Gene | ||||||||||||
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| 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: 16.01 – 16.06 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
| 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 | Abnormal[2] |
| Plasma immunoglobulins | Normal |
| Haematology | Abnormal[3] |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Skin Histopathology | Normal |
| Brain histopathology | Normal |
| Eye Histopathology | Normal |
| Salmonella infection | Abnormal[4] |
| Citrobacter infection | Normal[5] |
| All tests and analysis from[6][7] |
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
- ↑ "Entrez Gene: pleckstrin homology domain containing, family M (with RUN domain) member 2". Retrieved 2011-08-30.
- ↑ "Clinical chemistry data for Plekhm2". Wellcome Trust Sanger Institute.
- ↑ "Haematology data for Plekhm2". Wellcome Trust Sanger Institute.
- ↑ "Salmonella infection data for Plekhm2". Wellcome Trust Sanger Institute.
- ↑ "Citrobacter infection data for Plekhm2". Wellcome Trust Sanger Institute.
- ↑ 6.0 6.1 6.2 6.3 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.
- ↑ 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 (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ↑ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ 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.
Further reading
- Boucrot E, Henry T, Borg JP, et al. (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, et al. (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 Res. 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID 10048485.
- Stelzl U, Worm U, Lalowski M, et al. (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.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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.
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