Synonyms:CDG2T, E2-2, ENTREZ:6925, FECD3, HGNC:11634, ITF-2, ITF2, MIM:602272, NM_001083962, NM_001243226, NM_001243227, NM_001243228, NM_001243230, NM_001243231, NM_001243232, NM_001243233, NM_001243234, NM_001243235, NM_001243236, NM_001306207, NM_001306208, NM_001330604, NM_001330605, NM_001348211, NM_001348212, NM_001348213, NM_001348214, NM_001348215, NM_001348216, NM_001348217, NM_001348218, NM_001348219, NM_001348220, NM_001369567, NM_001369568, NM_001369569, NM_001369570, NM_001369571, NM_001369572, NM_001369573, NM_001369574, NM_001369575, NM_001369576, NM_001369577, NM_001369578, NM_001369579, NM_001369580, NM_001369581, NM_001369582, NM_001369583, NM_001369584, NM_001369585, NM_001369586, NM_003199, NP_001077431, NP_001230155, NP_001230156, NP_001230157, NP_001230159, NP_001230160, NP_001230161, NP_001230162, NP_001230163, NP_001230164, NP_001230165, NP_001293136, NP_001293137, NP_001317533, NP_001317534, NP_001335140, NP_001335141, NP_001335142, NP_001335143, NP_001335144, NP_001335145, NP_001335146, NP_001335147, NP_001335148, NP_001335149, NP_001356496, NP_001356497, NP_001356498, NP_001356499, NP_001356500, NP_001356501, NP_001356502, NP_001356503, NP_001356504, NP_001356505, NP_001356506, NP_001356507, NP_001356508, NP_001356509, NP_001356510, NP_001356511, NP_001356512, NP_001356513, NP_001356514, NP_001356515, NP_003190, PTHS, SEF-2, SEF2, SEF2-1, SEF2-1A, SEF2-1B, SEF2-1D, TCF-4, TCF4, XM_005266749, XM_005266752, XM_005266755, XM_005266761, XM_006722538, XM_017025950, XM_017025951, XM_017025952, XM_017025953, XM_017025954, XM_017025956, XM_024451241, XP_005266806, XP_005266809, XP_005266812, XP_005266818, XP_006722601, XP_016881439, XP_016881440, XP_016881441, XP_016881442, XP_016881443, XP_016881445, XP_024307009, bHLHb19, transcription factor 4
Omim:OMIM:602272
Id:ENSG00000196628
Hgnc:HGNC:11634
Description:transcription factor 4
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]
