PLEKHM2

Pleckstrin homology domain-containing family M member 2 is a protein that in humans is encoded by the PLEKHM2 gene.[5]

PLEKHM2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3CXB, 3HW2, 3ZFW
Identifiers
Aliases	PLEKHM2, SKIP, pleckstrin homology and RUN domain containing M2
External IDs	OMIM: 609613 MGI: 1916832 HomoloGene: 19575 GeneCards: PLEKHM2
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.21 Start 15,684,320 bp[1] End 15,734,769 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 E1 Start 141,625,734 bp[2] End 141,664,899 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding • kinesin binding Cellular component • cytoplasm • endosome membrane Biological process • positive regulation of membrane tubulation • Golgi organization • regulation of protein localization • lysosome localization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23207	69582
Ensembl	ENSG00000116786	ENSMUSG00000028917
UniProt	Q8IWE5	Q80TQ5
RefSeq (mRNA)	NM_015164	NM_001033150 NM_001347237
RefSeq (protein)	NP_055979	NP_001028322 NP_001334166
Location (UCSC)	Chr 1: 15.68 – 15.73 Mb	Chr 4: 141.63 – 141.66 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Plekhm2 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	Abnormal[6]
Plasma immunoglobulins	Normal
Haematology	Abnormal[7]
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Eye Histopathology	Normal
Salmonella infection	Abnormal[8]
Citrobacter infection	Normal[9]
All tests and analysis from[10][11]

Model organisms have been used in the study of PLEKHM2 function. A conditional knockout mouse line, called Plekhm2^{tm1a(EUCOMM)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.[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty six tests were carried out on mutant mice and three significant abnormalities were observed.[10] Male homozygous mutants had increased circulating alkaline phosphatase levels and an increased susceptibility to bacterial infection, while females had an increased leukocyte cell number.[10]

References

1. GRCh38: Ensembl release 89: ENSG00000116786 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028917 - 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. "Entrez Gene: pleckstrin homology domain containing, family M (with RUN domain) member 2". Retrieved 2011-08-30.
6. "Clinical chemistry data for Plekhm2". Wellcome Trust Sanger Institute.
7. "Haematology data for Plekhm2". Wellcome Trust Sanger Institute.
8. "Salmonella infection data for Plekhm2". Wellcome Trust Sanger Institute.
9. "Citrobacter infection data for Plekhm2". Wellcome Trust Sanger Institute.
10. 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.
11. Mouse Resources Portal, Wellcome Trust Sanger Institute.
12. "International Knockout Mouse Consortium".
13. "Mouse Genome Informatics".
14. 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.
15. Dolgin E (Jun 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 (Jan 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 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. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070.