.. _ADAM30:

ADAM30
^^^^^^

.. contents::
   :local:

General Information
*******************

:Full gene name: ADAM metallopeptidase domain 30
:Entrez Gene ID: 11085
:Location: 1p12
:Synonyms: svph4
:Type: protein-coding

User SNPs
*********

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

+------------+---------------+-----------+
|    SNP     | Distance (bp) | Direction |
+============+===============+===========+
| rs10923931 |     78812     |  upstream |
+------------+---------------+-----------+

.. _ADAM30 Gene summary:

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

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]

.. _OMIM ID 604779
                        : http://omim.org/entry/604779
                        

.. _ADAM30 OMIM Text:

OMIM
****

:OMIM ID: `OMIM ID 604779
                        `_


.. _ADAM30 Phenotype:

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

* NHGRI GWA Catalog
* Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 \ ``diabetes``\ .

.. _ADAM30 GO Term:

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

* metallopeptidase activity
* proteolysis
* metalloendopeptidase activity
* integral to membrane
* zinc ion binding

.. _ADAM30 Pathway:

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

No pathways found linked to this gene.

.. _ADAM30 GeneRIF:

GeneRIFs
********

* Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) [`PMID 18591388`_]
* Observational study of gene-disease association. (HuGE Navigator) [`PMID 19862325`_]

.. _PMID 18591388: http://www.ncbi.nlm.nih.gov/pubmed/18591388
.. _PMID 19862325: http://www.ncbi.nlm.nih.gov/pubmed/19862325

.. _ADAM30 Pubmed:

PubMed Articles
***************

*Recent articles:*

* Hu C et al. "PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population." PLoS One. 2009 Oct 28;4(10):e7643. `PMID 19862325`_
* Lango H et al. "Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk." Diabetes. 2008 Nov;57(11):3129-35. `PMID 18591388`_
* Zeggini E et al. "Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes." Nat Genet. 2008 May;40(5):638-45. `PMID 18372903`_
* Gregory SG et al. "The DNA sequence and biological annotation of human chromosome 1." Nature. 2006 May 18;441(7091):315-21. `PMID 16710414`_
* Clark HF et al. "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Genome Res. 2003 Oct;13(10):2265-70. `PMID 12975309`_
* 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`_
* Cerretti DP et al. "Isolation of two novel metalloproteinase-disintegrin (ADAM) cDNAs that show testis-specific gene expression." Biochem Biophys Res Commun. 1999 Oct 5;263(3):810-5. `PMID 10512762`_

.. _PMID 19862325: http://www.ncbi.nlm.nih.gov/pubmed/19862325
.. _PMID 16710414: http://www.ncbi.nlm.nih.gov/pubmed/16710414
.. _PMID 12477932: http://www.ncbi.nlm.nih.gov/pubmed/12477932
.. _PMID 12975309: http://www.ncbi.nlm.nih.gov/pubmed/12975309
.. _PMID 18372903: http://www.ncbi.nlm.nih.gov/pubmed/18372903
.. _PMID 10512762: http://www.ncbi.nlm.nih.gov/pubmed/10512762
.. _PMID 18591388: http://www.ncbi.nlm.nih.gov/pubmed/18591388

*Top Pubmed articles linked to gene ADAM30 matching any search term:* 

* Gupta V et al. "Association analysis of 31 common polymorphisms with type 2 diabetes and its related traits in Indian sib pairs." Diabetologia. 2012 Feb;55(2):349-57. `PMID 22052079`_
* Hu C et al. "PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population." PLoS One. 2009 Oct 28;4(10):e7643. `PMID 19862325`_
* Lango H et al. "Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk." Diabetes. 2008 Nov;57(11):3129-35. `PMID 18591388`_
* Zeggini E et al. "Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes." Nat Genet. 2008 May;40(5):638-45. `PMID 18372903`_

.. _PMID 18591388: http://www.ncbi.nlm.nih.gov/pubmed/18591388
.. _PMID 22052079: http://www.ncbi.nlm.nih.gov/pubmed/22052079
.. _PMID 19862325: http://www.ncbi.nlm.nih.gov/pubmed/19862325
.. _PMID 18372903: http://www.ncbi.nlm.nih.gov/pubmed/18372903