CAMK1D

General Information

Full gene name:calcium/calmodulin-dependent protein kinase ID Entrez Gene ID:57118 Location:10p13 Synonyms:CaM-K1, CKLiK, CaMKID Type:protein-coding

User SNPs

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

SNP	Distance (bp)	Direction
rs12779790	63573	upstream

NCBI Summary

This gene encodes a member of the Ca2+/calmodulin-dependent protein kinase 1 subfamily of serine/threonine kinases. The encoded protein may be involved in the regulation of granulocyte function through the chemokine signal transduction pathway. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

OMIM

OMIM ID:`OMIM ID 607957 `_

NCBI Phenotypes

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

Gene Ontology

• regulation of dendrite development
• cytoplasm
• inflammatory response
• positive regulation of phagocytosis
• calmodulin-dependent protein kinase activity
• regulation of apoptotic process
• positive regulation of neuron projection development
• calmodulin binding
• calcium- and calmodulin-dependent protein kinase complex
• ATP binding
• positive regulation of neutrophil chemotaxis
• positive regulation of respiratory burst
• positive regulation of CREB transcription factor activity
• regulation of granulocyte chemotaxis
• nucleus

KEGG Pathways

No pathways found linked to this gene.

GeneRIFs

• Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) [PMID 20889853]
• Observational study of gene-disease association. (HuGE Navigator) [PMID 20712903]
• CAMK1D as a novel amplified oncogene linked to epithelial-mesenchymal transition in breast cancer, with elevated expression in invasive carcinomas compared to carcinoma in situ [PMID 19383354]
• Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) [PMID 18372903]
• Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) [PMID 19324937]
• Observational study and meta-analysis of gene-disease association. (HuGE Navigator) [PMID 20927120]
• Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) [PMID 20379614]
• A significant association of rs10906115 in CDC123/CAMK1D and rs1359790 near SPRY2 was identified with type 2 diabetes in a Japanese population. [PMID 21909839]
• Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) [PMID 20571754]
• Biochemical Activity [PMID 19953087]
• Biochemical Activity [PMID 19953087]
• Biochemical Activity; Reconstituted Complex [PMID 19953087]
• Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator) [PMID 19602701]
• Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator) [PMID 20418484]
• Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) [PMID 20879858]
• role of CKLiK in specific granulocyte effector functions such as phagocytosis, respiratory burst, migration, and adhesion [PMID 15840691]

PubMed Articles

Recent articles:

• Imamura M et al. “Genetic variants at CDC123/CAMK1D and SPRY2 are associated with susceptibility to type 2 diabetes in the Japanese population.” Diabetologia. 2011 Dec;54(12):3071-7. PMID 21909839
• de Miguel-Yanes JM et al. “Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms.” Diabetes Care. 2011 Jan;34(1):121-5. PMID 20889853
• Zhou DZ et al. “Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese.” J Hum Genet. 2010 Dec;55(12):810-5. PMID 20927120
• Rotger M et al. “Impact of single nucleotide polymorphisms and of clinical risk factors on new‐onset diabetes mellitus in HIV‐infected individuals.” Clin Infect Dis. 2010 Nov 1;51(9):1090-8. PMID 20879858
• Fontaine-Bisson B et al. “Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.” Diabetologia. 2010 Oct;53(10):2155-62. PMID 20571754
• Shimada M et al. “An approach based on a genome-wide association study reveals candidate loci for narcolepsy.” Hum Genet. 2010 Oct;128(4):433-41. PMID 20677014
• Shu XO et al. “Identification of new genetic risk variants for type 2 diabetes.” PLoS Genet. 2010 Sep 16;6(9). PMID 20862305
• Morgan AR et al. “Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.” BMC Med Genet. 2010 Aug 16;11:125. PMID 20712903
• Wang X et al. “Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.” Hum Mol Genet. 2010 Jul 15;19(14):2886-97. PMID 20418484
• Rose JE et al. “Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.” Mol Med. 2010 Jul-Aug;16(7-8):247-53. PMID 20379614

Top Pubmed articles linked to gene CAMK1D matching any search term:

• Imamura M et al. “Genetic variants at CDC123/CAMK1D and SPRY2 are associated with susceptibility to type 2 diabetes in the Japanese population.” Diabetologia. 2011 Dec;54(12):3071-7. PMID 21909839
• de Miguel-Yanes JM et al. “Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms.” Diabetes Care. 2011 Jan;34(1):121-5. PMID 20889853
• Zhou DZ et al. “Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese.” J Hum Genet. 2010 Dec;55(12):810-5. PMID 20927120
• Morgan AR et al. “Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.” BMC Med Genet. 2010 Aug 16;11:125. PMID 20712903
• Zhao J et al. “Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.” Diabetes. 2010 Mar;59(3):751-5. PMID 19933996
• Wen J et al. “Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.” PLoS One. 2010 Feb 10;5(2):e9153. PMID 20161779
• Lango Allen H et al. “Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.” Diabetes. 2010 Jan;59(1):266-71. PMID 19794065
• Schleinitz D et al. “Lack of significant effects of the type 2 diabetes susceptibility loci JAZF1, CDC123/CAMK1D, NOTCH2, ADAMTS9, THADA, and TSPAN8/LGR5 on diabetes and quantitative metabolic traits.” Horm Metab Res. 2010 Jan;42(1):14-22. PMID 19670153
• Simonis-Bik AM et al. “Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancreatic beta-cell function.” Diabetes. 2010 Jan;59(1):293-301. PMID 19833888
• Boesgaard TW et al. “Variant near ADAMTS9 known to associate with type 2 diabetes is related to insulin resistance in offspring of type 2 diabetes patients–EUGENE2 study.” PLoS One. 2009 Sep 30;4(9):e7236. PMID 19789630
• Kang ES et al. “Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.” Transplantation. 2009 Sep 15;88(5):693-8. PMID 19741467
• Omori S et al. “Replication study for the association of new meta-analysis-derived risk loci with susceptibility to type 2 diabetes in 6,244 Japanese individuals.” Diabetologia. 2009 Aug;52(8):1554-60. PMID 19455301
• Sanghera DK et al. “Testing the association of novel meta-analysis-derived diabetes risk genes with type II diabetes and related metabolic traits in Asian Indian Sikhs.” J Hum Genet. 2009 Mar;54(3):162-8. PMID 19247373
• Meigs JB et al. “Genotype score in addition to common risk factors for prediction of type 2 diabetes.” N Engl J Med. 2008 Nov 20;359(21):2208-19. PMID 19020323
• Staiger H et al. “Novel meta-analysis-derived type 2 diabetes risk loci do not determine prediabetic phenotypes.” PLoS One. 2008 Aug 20;3(8):e3019. PMID 18714373
• 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