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.

TCF4/E2-2 cDNA / Gene Function

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

LOCUS
HUMSEF21B 2500 bp mRNA linear PRI 09-JAN-1995
DEFINITION
Human SEF2-1B protein (SEF2-1B) mRNA, complete cds.
ACCESSION
M74719
VERSION
M74719.1

This sequence information is just for reference only.

TCF4/E2-2 Family & Reagents

TCF4/E2-2 Gene family reagents (Basic helix-loop-helix proteins)

Approved Symbol Reagent list
HIF1A
MITF
Approved Symbol Reagent list
MAX
   

TCF4/E2-2 cDNA / Gene Alias

  • bHLHb19
  • class B basic helix-loop-helix protein 19
  • E2-2
  • immunoglobulin transcription factor 2
  • ITF2
  • SEF2-1B
  • SL3-3 enhancer factor 2

TCF4/E2-2 cDNA / Gene Expression

Ubiquitous expression in brain (RPKM 17.0), fat (RPKM 14.9) and 24 other tissues