Gene: CDH12

Alternate names for this Gene: CDHB

Gene Summary: This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis.

Gene is located in Chromosome: 5

Location in Chromosome : 5p14.3

Description of this Gene: cadherin 12

Type of Gene: protein-coding

rs986732 in CDH12 gene and Body mass index PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs780179 in CDH12 gene and Multiple Myeloma PMID 23502783 2013 The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.

rs986732 in CDH12 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs73068906 in CDH12 gene and White Blood Cell Count procedure PMID 29596498 2018 Analyses of genome wide association data, cytokines, and gene expression in African-Americans with benign ethnic neutropenia.