FAT1 Chromosome 4
FAT atypical cadherin 1
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What This Gene Does
This gene is an ortholog 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 five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cadherin related
Locus Type
gene with protein product
Location
4q35.2
Ensembl
ENSG00000083857
Associated Conditions (10)
Inborn genetic diseases
FAT1-related disorder
Familial pancreatic carcinoma
Irido-corneo-trabecular dysgenesis
Anophthalmia-microphthalmia syndrome
Finnish congenital nephrotic syndrome
Congenital myasthenic syndrome 12
Multiple myeloma
Nephrotic syndrome
Neoplasm
Key Variants
RS1021583788
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1360260127
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141154871
Conflicting classifications of pathogenicity
FAT1-related disorder, FAT1-related disorder
Health Risk
RS142890707
Conflicting classifications of pathogenicity
Inborn genetic diseases, FAT1-related disorder, Inborn genetic diseases
Health Risk
RS143694311
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143802989
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149295542
Conflicting classifications of pathogenicity
Health Risk
RS149417595
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS188188069
Conflicting classifications of pathogenicity
Health Risk
RS188733415
Conflicting classifications of pathogenicity
FAT1-related disorder, FAT1-related disorder
Health Risk
RS192691397
Conflicting classifications of pathogenicity
FAT1-related disorder, FAT1-related disorder
Health Risk
RS192910004
Conflicting classifications of pathogenicity
FAT1-related disorder, FAT1-related disorder
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2477359801 | Health Risk | Likely pathogenic | — |
| RS369363545 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS375998390 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS570583897 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS751163127 | Health Risk | Likely pathogenic | FAT1-related disorder, FAT1-related disorder |
| RS983524169 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS1053599088 | Health Risk | Pathogenic | — |
| RS1744650400 | Health Risk | Pathogenic | — |
| RS1744838539 | Health Risk | Pathogenic | — |
| RS2477285101 | Health Risk | Pathogenic | — |
| RS2477302963 | Health Risk | Pathogenic | — |
| RS2477573063 | Health Risk | Pathogenic | — |
| RS577375480 | Health Risk | Pathogenic | — |
| RS777631605 | Health Risk | Pathogenic | — |
| RS928653182 | Health Risk | Pathogenic | — |