CDH3 Chromosome 16
Cadherin 3
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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. 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). [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
Type I classical cadherins
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000062038
Associated Conditions (13)
EEM syndrome
CDH3-related disorder
Retinal dystrophy
Inborn genetic diseases
Lung cancer
Congenital hypotrichosis with juvenile macular dystrophy
Gastric cancer
Malignant tumor of esophagus
Retinitis pigmentosa
Hypotrichosis with juvenile macular dystrophy
Hypotrichosis simplex
Macular dystrophy
Hypotrichosis
Key Variants
RS1191322448
Conflicting classifications of pathogenicity
EEM syndrome, EEM syndrome
Health Risk
RS138190335
Conflicting classifications of pathogenicity
EEM syndrome, CDH3-related disorder, Retinal dystrophy
Health Risk
RS144403828
Conflicting classifications of pathogenicity
EEM syndrome, CDH3-related disorder, EEM syndrome
Health Risk
RS144637479
Conflicting classifications of pathogenicity
Health Risk
RS145160881
Conflicting classifications of pathogenicity
EEM syndrome, Inborn genetic diseases, EEM syndrome
Health Risk
RS145851551
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147208782
Conflicting classifications of pathogenicity
EEM syndrome, EEM syndrome
Health Risk
RS148535251
Conflicting classifications of pathogenicity
EEM syndrome, CDH3-related disorder, EEM syndrome
Health Risk
RS151198926
Conflicting classifications of pathogenicity
EEM syndrome, CDH3-related disorder, EEM syndrome
Health Risk
RS1567457224
Conflicting classifications of pathogenicity
EEM syndrome, EEM syndrome
Health Risk
RS200124759
Conflicting classifications of pathogenicity
EEM syndrome, Lung cancer, EEM syndrome
Health Risk
RS201352240
Conflicting classifications of pathogenicity
EEM syndrome, EEM syndrome
Health Risk
All Variants (85)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2152105628 | Health Risk | Likely pathogenic | — |
| RS2152106824 | Health Risk | Likely pathogenic | — |
| RS2152107192 | Health Risk | Likely pathogenic | — |
| RS370724082 | Health Risk | Likely pathogenic | — |
| RS758051035 | Health Risk | Likely pathogenic | — |
| RS777186958 | Health Risk | Likely pathogenic | — |
| RS902162035 | Health Risk | Likely pathogenic | — |
| RS1157108621 | Health Risk | Pathogenic | Retinal dystrophy, Congenital hypotrichosis with juvenile macular dystrophy, Retinal dystrophy |
| RS1157340043 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1198380114 | Health Risk | Pathogenic | — |
| RS1208055411 | Health Risk | Pathogenic | — |
| RS121434542 | Health Risk | Pathogenic | Congenital hypotrichosis with juvenile macular dystrophy, Retinal dystrophy, Congenital hypotrichosis with juvenile macular dystrophy |
| RS121434543 | Health Risk | Pathogenic | EEM syndrome, EEM syndrome |
| RS1384363306 | Health Risk | Pathogenic | — |
| RS1474181679 | Health Risk | Pathogenic | Congenital hypotrichosis with juvenile macular dystrophy, Retinal dystrophy, Congenital hypotrichosis with juvenile macular dystrophy |
| RS1597807758 | Health Risk | Pathogenic | Hypotrichosis with juvenile macular dystrophy, Hypotrichosis with juvenile macular dystrophy |
| RS1961257560 | Health Risk | Pathogenic | — |
| RS1961345678 | Health Risk | Pathogenic | — |
| RS1961376390 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1961686856 | Health Risk | Pathogenic | — |
| RS2152100234 | Health Risk | Pathogenic | Hypotrichosis simplex, Hypotrichosis simplex |
| RS2152105500 | Health Risk | Pathogenic | — |
| RS2152105512 | Health Risk | Pathogenic | — |
| RS2543729239 | Health Risk | Pathogenic | — |
| RS2543732694 | Health Risk | Pathogenic | — |
| RS2543735986 | Health Risk | Pathogenic | — |
| RS724159984 | Health Risk | Pathogenic | Hypotrichosis with juvenile macular dystrophy, Congenital hypotrichosis with juvenile macular dystrophy, Hypotrichosis with juvenile macular dystrophy |
| RS724159985 | Health Risk | Pathogenic | EEM syndrome, Macular dystrophy, Congenital hypotrichosis with juvenile macular dystrophy |
| RS752131891 | Health Risk | Pathogenic | Congenital hypotrichosis with juvenile macular dystrophy, Congenital hypotrichosis with juvenile macular dystrophy |
| RS755910254 | Health Risk | Pathogenic | — |
| RS757728994 | Health Risk | Pathogenic | — |
| RS761941770 | Health Risk | Pathogenic | Congenital hypotrichosis with juvenile macular dystrophy, Congenital hypotrichosis with juvenile macular dystrophy |
| RS767009501 | Health Risk | Pathogenic | — |
| RS779888126 | Health Risk | Pathogenic | Congenital hypotrichosis with juvenile macular dystrophy, Retinal dystrophy, Congenital hypotrichosis with juvenile macular dystrophy |
| RS866290802 | Health Risk | Pathogenic | Hypotrichosis, Hypotrichosis |