FOXE1 gene

forkhead box E1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression.

From NCBI Gene:

  • Bamforth-Lazarus syndrome
  • Thyroid cancer, nonmedullary, 4

From UniProt:

Thyroid cancer, non-medullary, 4 (NMTC4): A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. [MIM:616534]

Bamforth-Lazarus syndrome (BLS): A disease characterized by thyroid agenesis, cleft palate and choanal atresia. [MIM:241850]

Cytogenetic Location: 9q22.33, which is the long (q) arm of chromosome 9 at position 22.33

Molecular Location: base pairs 97,853,226 to 97,856,717 on chromosome 9 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 9q22.33, which is the long (q) arm of chromosome 9 at position 22.33
  • FKHL15
  • FOXE2
  • HFKH4
  • HFKL5
  • NMTC4
  • TITF2
  • TTF-2
  • TTF2