CDH1 Chromosome 16
Cadherin 1
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What This Gene Does
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. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
"CD molecules|Type I classical cadherins"
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000039068
Associated Conditions (39)
Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
6 conditions
Endometrial carcinoma
Familial cancer of breast
Blepharocheilodontic syndrome 1
Ovarian cancer
Prostate cancer
Malignant tumor of breast
CDH1-related disorder
CDH1-related diffuse gastric and lobular breast cancer syndrome
Gastric cancer
Breast and/or ovarian cancer
Breast lobular carcinoma
Cleft lip with or without cleft palate
Hereditary breast ovarian cancer syndrome
Ovarian serous cystadenocarcinoma
Breast-ovarian cancer
familial
susceptibility to
+19 more conditions
Key Variants
RS1001200905
Conflicting classifications of pathogenicity
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
Health Risk
RS1003012321
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, 6 conditions, Hereditary diffuse gastric adenocarcinoma
Health Risk
RS1031814673
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1042391377
Conflicting classifications of pathogenicity
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
Health Risk
RS1053572488
Conflicting classifications of pathogenicity
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1057517618
Conflicting classifications of pathogenicity
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
Health Risk
RS1057520261
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1057520562
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1057520916
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1057521592
Conflicting classifications of pathogenicity
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
Health Risk
RS1057521835
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1057521843
Conflicting classifications of pathogenicity
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
Health Risk
All Variants (914)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1962463097 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Malignant tumor of breast |
| RS2152114329 | Health Risk | Pathogenic/Likely pathogenic | Gastric cancer, Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152133449 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, Familial cancer of breast, Hereditary diffuse gastric adenocarcinoma |
| RS2152137028 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2543904994 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2543915988 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS2543919463 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543924300 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS2543927013 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, Familial cancer of breast, Hereditary diffuse gastric adenocarcinoma |
| RS2543931410 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, CDH1-related disorder, Hereditary diffuse gastric adenocarcinoma |
| RS2543942324 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS376922615 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS761753486 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS765929630 | Health Risk | Pathogenic/Likely pathogenic | Familial cancer of breast, Hereditary diffuse gastric adenocarcinoma, Endometrial carcinoma |