FOXE1 Chromosome 9
Forkhead box E1
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What This Gene Does
This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding 'forkhead' domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4. [provided by RefSeq, Nov 2016]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
9q22.33
Ensembl
ENSG00000178919
Associated Conditions (4)
Thyroid cancer
nonmedullary
4
Bamforth-Lazarus syndrome
Key Variants
RS538912281
Conflicting classifications of pathogenicity
Thyroid cancer, nonmedullary, 4
Health Risk
RS104894110
Pathogenic
Bamforth-Lazarus syndrome, Bamforth-Lazarus syndrome
Health Risk
RS104894111
Pathogenic
Bamforth-Lazarus syndrome, Bamforth-Lazarus syndrome
Health Risk
RS2489998217
Pathogenic
Bamforth-Lazarus syndrome, Bamforth-Lazarus syndrome
Health Risk
RS28937575
Pathogenic
Bamforth-Lazarus syndrome, Bamforth-Lazarus syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS538912281 | Health Risk | Conflicting classifications of pathogenicity | Thyroid cancer, nonmedullary, 4 |
| RS104894110 | Health Risk | Pathogenic | Bamforth-Lazarus syndrome, Bamforth-Lazarus syndrome |
| RS104894111 | Health Risk | Pathogenic | Bamforth-Lazarus syndrome, Bamforth-Lazarus syndrome |
| RS2489998217 | Health Risk | Pathogenic | Bamforth-Lazarus syndrome, Bamforth-Lazarus syndrome |
| RS28937575 | Health Risk | Pathogenic | Bamforth-Lazarus syndrome, Bamforth-Lazarus syndrome |