FAT2 Chromosome 5

FAT atypical cadherin 2
70 variants 70 Health Risk

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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
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
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