Gene: CBLC

Alternate names for this Gene: CBL-3|CBL-SL|RNF57

Gene Summary: This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: Cbl proto-oncogene C

Type of Gene: protein-coding

rs112450640 in CBLC gene and Alzheimer's Disease PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

PMID 30617256 2019 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

rs186872766 in CBLC gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs148933445 in CBLC gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3208856 in CBLC gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs3208856 in CBLC gene and Low density lipoprotein cholesterol measurement PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 24507774 2014 Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

rs3208856 in CBLC gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.