C12orf43

General Information

Full gene name:chromosome 12 open reading frame 43
Entrez Gene ID:64897
Location:12q
Synonyms:
Type:protein-coding

User SNPs

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

SNP Distance (bp) Direction
rs7957197 6386 upstream

NCBI Summary

None available.

OMIM

No OMIM data available for this gene.

NCBI Phenotypes

  • Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation.
  • Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
  • New susceptibility locus for coronary artery disease on chromosome 3q22.3.
  • NHGRI GWA Catalog

Gene Ontology

No GO terms found linked to this gene.

KEGG Pathways

No pathways found linked to this gene.

GeneRIFs

  • Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) [PMID 19198612]

PubMed Articles

Recent articles:

  • Lauc G et al. “Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation.” PLoS Genet. 2010 Dec 23;6(12):e1001256. PMID 21203500
  • Erdmann J et al. “New susceptibility locus for coronary artery disease on chromosome 3q22.3.” Nat Genet. 2009 Mar;41(3):280-2. PMID 19198612
  • Yuan X et al. “Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.” Am J Hum Genet. 2008 Oct;83(4):520-8. PMID 18940312
  • Olsen JV et al. “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.” Cell. 2006 Nov 3;127(3):635-48. PMID 17081983
  • Gerhard DS et al. “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” Genome Res. 2004 Oct;14(10B):2121-7. PMID 15489334
  • Ota T et al. “Complete sequencing and characterization of 21,243 full-length human cDNAs.” Nat Genet. 2004 Jan;36(1):40-5. PMID 14702039
  • 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
  • Yu W et al. “Large-scale concatenation cDNA sequencing.” Genome Res. 1997 Apr;7(4):353-8. PMID 9110174
  • Andersson B et al. “A “double adaptor” method for improved shotgun library construction.” Anal Biochem. 1996 Apr 5;236(1):107-13. PMID 8619474
  • Maruyama K et al. “Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.” Gene. 1994 Jan 28;138(1-2):171-4. PMID 8125298

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