Gene: C2CD6

Alternate names for this Gene: ALS2CR11

Gene Summary: An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction.

Gene is located in Chromosome: 2

Location in Chromosome : 2q33.1

Description of this Gene: C2 calcium dependent domain containing 6

Type of Gene: protein-coding

rs77688320 in C2CD6 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs2540435 in C2CD6 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.