CTNNA1 Chromosome 5
Catenin alpha 1
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What This Gene Does
This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]
Gene Info
Gene Group
Alpha catenins
Locus Type
gene with protein product
Location
5q31.2
Ensembl
ENSG00000044115
Associated Conditions (15)
Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
CTNNA1-related disorder
Patterned macular dystrophy 2
Retinal dystrophy
Hereditary nonpolyposis colon cancer
Hepatocellular carcinoma
Nonpapillary renal cell carcinoma
Polyposis syndrome
hereditary mixed
1
Colorectal cancer
Craniosynostosis syndrome
Hereditary breast ovarian cancer syndrome
CTNNA1-associated FEVR
Key Variants
RS1015730449
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1025792545
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1181337385
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1213017578
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1215283244
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1248721633
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1253558458
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, CTNNA1-related disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1283433441
Conflicting classifications of pathogenicity
Patterned macular dystrophy 2, Patterned macular dystrophy 2
Health Risk
RS1292294409
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1294061925
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1346100329
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1354521948
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (306)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2532448044 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532980193 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532980348 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2532981201 | Health Risk | Pathogenic | — |
| RS2532981409 | Health Risk | Pathogenic | — |
| RS2532982253 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533017790 | Health Risk | Pathogenic | — |
| RS2533352646 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533353880 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533354315 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS2533587832 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533588489 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533589177 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533589473 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533589704 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533589742 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533710424 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS2533713057 | Health Risk | Pathogenic | — |
| RS2533714564 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533734361 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533735074 | Health Risk | Pathogenic | — |
| RS2533736177 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533819466 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS2533819573 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533819947 | Health Risk | Pathogenic | — |
| RS2533820112 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533821748 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533822409 | Health Risk | Pathogenic | — |
| RS2533858938 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533910715 | Health Risk | Pathogenic | — |
| RS371052704 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS745411817 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS753714506 | Health Risk | Pathogenic | — |
| RS755724779 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS758599826 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS767711515 | Health Risk | Pathogenic | — |
| RS772061558 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS773235871 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS773383379 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS774590663 | Health Risk | Pathogenic | — |
| RS869320696 | Health Risk | Pathogenic | Patterned macular dystrophy 2, Patterned macular dystrophy 2 |
| RS869320697 | Health Risk | Pathogenic | Patterned macular dystrophy 2, Patterned macular dystrophy 2 |
| RS926691029 | Health Risk | Pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS1043413100 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS1181915653 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS1356240181 | Health Risk | Pathogenic/Likely pathogenic | Hereditary diffuse gastric adenocarcinoma, Patterned macular dystrophy 2, Hereditary diffuse gastric adenocarcinoma |
| RS1401839892 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, CTNNA1-associated FEVR, Patterned macular dystrophy 2 |
| RS1581105774 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Patterned macular dystrophy 2 |
| RS1763595481 | Health Risk | Pathogenic/Likely pathogenic | Patterned macular dystrophy 2, Patterned macular dystrophy 2 |
| RS1763609978 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |