CTNND2 Chromosome 5
Catenin delta 2
Upload your DNA to see your personal genotypes for variants in CTNND2.
What This Gene Does
This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
"Armadillo repeat containing|p120 catenin family"
Locus Type
gene with protein product
Location
5p15.2
Ensembl
ENSG00000169862
Associated Conditions (3)
Neurodevelopmental disorder
Inborn genetic diseases
CTNND2-related disorder
Key Variants
RS1016219246
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Inborn genetic diseases, Neurodevelopmental disorder
Health Risk
RS141302945
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142843736
Conflicting classifications of pathogenicity
Health Risk
RS550349189
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS557341981
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765655737
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS774668411
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS886041494
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1057518120
Likely pathogenic
Health Risk
RS1064796494
Likely pathogenic
Health Risk
RS1554008611
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554046915
Likely pathogenic
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1016219246 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Inborn genetic diseases, Neurodevelopmental disorder |
| RS141302945 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142843736 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS550349189 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS557341981 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765655737 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774668411 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS886041494 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1057518120 | Health Risk | Likely pathogenic | — |
| RS1064796494 | Health Risk | Likely pathogenic | — |
| RS1554008611 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554046915 | Health Risk | Likely pathogenic | — |
| RS1561136548 | Health Risk | Likely pathogenic | — |
| RS1580669869 | Health Risk | Likely pathogenic | — |
| RS1581078962 | Health Risk | Likely pathogenic | — |
| RS2477383479 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2546872978 | Health Risk | Likely pathogenic | CTNND2-related disorder, CTNND2-related disorder |