Gene: TCF4

Alternate names for this Gene: CDG2T|E2-2|FECD3|ITF-2|ITF2|PTHS|SEF-2|SEF2|SEF2-1|SEF2-1A|SEF2-1B|SEF2-1D|TCF-4|bHLHb19

Gene Summary: 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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.2

Description of this Gene: transcription factor 4

Type of Gene: protein-coding

Gene: TCF4-AS1

Alternate names for this Gene: MIR4529HG

Gene Summary:

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.2

Description of this Gene: TCF4 antisense RNA 1

Type of Gene: ncRNA