.. _PLEKHH2:

PLEKHH2
^^^^^^^

.. contents::
   :local:

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 |
+-----------+---------------+-----------+

.. _PLEKHH2 Gene summary:

NCBI Summary
************

None available.

.. _OMIM ID 612723
                        : http://omim.org/entry/612723
                        

.. _PLEKHH2 OMIM Text:

OMIM
****

:OMIM ID: `OMIM ID 612723
                        `_


.. _PLEKHH2 Phenotype:

NCBI Phenotypes
***************

No phenotypes found linked to this gene.

.. _PLEKHH2 GO Term:

Gene Ontology
*************

* cytoplasm
* cytoskeleton
* phospholipid binding
* integral to membrane

.. _PLEKHH2 Pathway:

KEGG Pathways
*************

No pathways found linked to this gene.

.. _PLEKHH2 GeneRIF:

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`_]

.. _PMID 18752002: http://www.ncbi.nlm.nih.gov/pubmed/18752002

.. _PLEKHH2 Pubmed:

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`_

.. _PMID 11076863: http://www.ncbi.nlm.nih.gov/pubmed/11076863
.. _PMID 12477932: http://www.ncbi.nlm.nih.gov/pubmed/12477932
.. _PMID 11230166: http://www.ncbi.nlm.nih.gov/pubmed/11230166
.. _PMID 18752002: http://www.ncbi.nlm.nih.gov/pubmed/18752002
.. _PMID 11256614: http://www.ncbi.nlm.nih.gov/pubmed/11256614
.. _PMID 15489336: http://www.ncbi.nlm.nih.gov/pubmed/15489336
.. _PMID 16381901: http://www.ncbi.nlm.nih.gov/pubmed/16381901

*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`_

.. _PMID 18752002: http://www.ncbi.nlm.nih.gov/pubmed/18752002