AC T02782
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ID T02782
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DT 26.07.1999 (created); mpr.
DT 16.03.2012 (updated); jtr.
CO Copyright (C), QIAGEN.
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FA FOXE1
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SY FK15; FKHL15; Fork head related protein FKHL15; Thyroid transcription factor 2; TITF2; TTF-2.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G006090 FOXE1; HGNC: FOXE1.
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HO strong homology to rat TTF-2.
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CL C0023; fork head; 3.3.1.5.1.
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CP thyroid (follicular cells), anterior pituitary, lung, foregut endoderm.
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FF regulates genes expressed during the thyroid differentiation, like thyroid peroxidase (TPO) and thyroglobulin (Tg) genes [1] [3];
FF required for palate closure [1] [5];
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BS R38142.
BS R38148.
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DR TRANSPATH: MO000026754.
DR PATHODB: MT000019.
DR UniProtKB: O00358;
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RN [1]; RE0013355.
RX PUBMED: 9697705.
RA Clifton-Bligh R. J., Wentworth J. M., Heinz P., Crisp M. S., John R., Lazarus J. H., Ludgate M., Chatterjee V. K.
RT Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
RL Nat. Genet. 19:399-401 (1998).
RN [2]; RE0013356.
RX PUBMED: 9697704.
RA de Felice M., Ovitt C., Biffali E., Rodriguez-Mallon A., Arra C., Anastassiadis K., Macchia P. E., Mattei M. G., Mariano A., Scholer H., Macchia V., Di Lauro R.
RT A mouse model for hereditary thyroid dysgenesis and cleft palate
RL Nat. Genet. 19:395-398 (1998).
RN [3]; RE0013493.
RX PUBMED: 9214635.
RA Zannini M., Avantaggiato V., Biffali E., Arnone M. I., Sato K., Pischetola M., Taylor B. A., Phillips S. J., Simeone A., Di Lauro R.
RT TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation.
RL EMBO J. 16:3185-3197 (1997).
RN [4]; RE0013768.
RX PUBMED: 9169137.
RA Chadwick B. P., Obermayr F., Frischauf A. M.
RT FKHL15, a new human member of the forkhead gene family located on chromosome 9q22
RL Genomics 41:390-396 (1997).
RN [5]; RE0013786.
RX PUBMED: 9916856.
RA Damante G.
RT Thyroid defects due to Pax8 gene mutations
RL Eur. J. Endocrinol. 139:563-566 (1998).
RN [6]; RE0047915.
RX PUBMED: 11179011.
RA Saleem R. A., Banerjee-Basu S., Berry F. B., Baxevanis A. D., Walter M. A.
RT Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1.
RL Am. J. Hum. Genet. 68:627-641 (2001).
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