ADAM30

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

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

OMIM ID:`OMIM ID 604779 `_

NCBI Phenotypes

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

Gene Ontology

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

KEGG Pathways

No pathways found linked to this gene.

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]

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

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