Gene: CDH3

Alternate names for this Gene: CDHP|HJMD|PCAD

Gene Summary: This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS).

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1

Description of this Gene: cadherin 3

Type of Gene: protein-coding

rs9924886 in CDH3 gene and Adenocarcinoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs9924886 in CDH3 gene and Adenoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs9924886 in CDH3 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs9924886 in CDH3 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs9924886 in CDH3 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs9924886 in CDH3 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs9924886 in CDH3 gene and Colorectal Carcinoma PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs9924886 in CDH3 gene and Colorectal Neoplasms PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs3118228 in CDH3 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs724159985 in CDH3 gene and Macular dystrophy PMID 14708629 2003 Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.

rs9924886 in CDH3 gene and Malignant neoplasm of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs9924886 in CDH3 gene and Malignant tumor of colon PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1886700 in CDH3 gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs147333341 in CDH3 gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs147333341 in CDH3 gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6499188 in CDH3 gene and Ulcerative Colitis PMID 21297633 2011 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.