PLEKHH2

General Information

Full gene name:pleckstrin homology domain containing, family H (with MyTH4 domain) member 2
Entrez Gene ID:130271
Location:2p21
Synonyms:PLEKHH1L
Type:protein-coding

User SNPs

SNPs given by the user that are near or inside this gene:

SNP Distance (bp) Direction
rs7578597 131616 upstream

NCBI Summary

None available.

OMIM

OMIM ID:`OMIM ID 612723 `_

NCBI Phenotypes

No phenotypes found linked to this gene.

Gene Ontology

  • cytoplasm
  • cytoskeleton
  • phospholipid binding
  • integral to membrane

KEGG Pathways

No pathways found linked to this gene.

GeneRIFs

  • PLEKHH2, which has mRNA and protein expression exclusively in the glomerulus, may be a genetic risk factor for susceptibility to diabetic nephropathy in the diabetic population [PMID 18752002]
  • Observational study of gene-disease association. (HuGE Navigator) [PMID 18752002]

PubMed Articles

Recent articles:

  • Greene CN et al. “Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population.” Hum Genet. 2008 Oct;124(3):255-62. PMID 18752002
  • Mehrle A et al. “The LIFEdb database in 2006.” Nucleic Acids Res. 2006 Jan 1;34(Database issue):D415-8. PMID 16381901
  • Wiemann S et al. “From ORFeome to biology: a functional genomics pipeline.” Genome Res. 2004 Oct;14(10B):2136-44. PMID 15489336
  • Strausberg RL et al. “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.” Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. PMID 12477932
  • Wiemann S et al. “Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.” Genome Res. 2001 Mar;11(3):422-35. PMID 11230166
  • Hartley JL et al. “DNA cloning using in vitro site-specific recombination.” Genome Res. 2000 Nov;10(11):1788-95. PMID 11076863
  • Simpson JC et al. “Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.” EMBO Rep. 2000 Sep;1(3):287-92. PMID 11256614

Top Pubmed articles linked to gene PLEKHH2 matching any search term:

  • Greene CN et al. “Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population.” Hum Genet. 2008 Oct;124(3):255-62. PMID 18752002

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