TCF4/E2-2 Gene Sequence, Family, Fuction and Expression Information
TCF4/E2-2 cDNA / Gene Overview
TCF4 cDNA / gene is a gene with protein product which located on 18q21.2. The TCF4 gene is conserved in Rhesus monkey, dog, cow, mouse, rat, and frog. 206 organisms have orthologs with human gene TCF4.
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]
TCF4/E2-2 cDNA / Gene Sequence
HUMSEF21B 2500 bp mRNA linear PRI 09-JAN-1995
Human SEF2-1B protein (SEF2-1B) mRNA, complete cds.
This sequence information is just for reference only.