FAT2 Chromosome 5
FAT atypical cadherin 2
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What This Gene Does
This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Cadherin related|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
5q33.1
Ensembl
ENSG00000086570
Associated Conditions (8)
FAT2-related disorder
Thyroid cancer
nonmedullary
1
Melanoma
Spinocerebellar ataxia 45
Malignant tumor of urinary bladder
Spastic ataxia
Key Variants
RS1001969191
Conflicting classifications of pathogenicity
Health Risk
RS112752342
Conflicting classifications of pathogenicity
Health Risk
RS114551196
Conflicting classifications of pathogenicity
Health Risk
RS1161562868
Conflicting classifications of pathogenicity
Health Risk
RS1230837637
Conflicting classifications of pathogenicity
Health Risk
RS138553789
Conflicting classifications of pathogenicity
Health Risk
RS138705803
Conflicting classifications of pathogenicity
Health Risk
RS138750878
Conflicting classifications of pathogenicity
FAT2-related disorder, FAT2-related disorder
Health Risk
RS138808784
Conflicting classifications of pathogenicity
FAT2-related disorder, FAT2-related disorder
Health Risk
RS139121881
Conflicting classifications of pathogenicity
Health Risk
RS140124616
Conflicting classifications of pathogenicity
Health Risk
RS140673312
Conflicting classifications of pathogenicity
Health Risk
All Variants (70)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS374886263 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376862533 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia 45, Spinocerebellar ataxia 45 |
| RS377056065 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS564470096 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS573511043 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61743240 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749212402 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750561477 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751421723 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751967199 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753135006 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753347885 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756275304 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766681033 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771234278 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772694360 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774864012 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781458716 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS79533881 | Health Risk | Conflicting classifications of pathogenicity | FAT2-related disorder, FAT2-related disorder |
| RS2479961112 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 45, Spinocerebellar ataxia 45 |