TRA2B
Description
The TRA2B (transformer 2 beta homolog) is a protein-coding gene located on chromosome 3.
TRA2B, also known as Transformer-2 protein homolog beta or Splicing factor, arginine/serine-rich 10 (SFRS10), is a protein encoded by the TRA2B gene in humans.
TRA2B is a sequence-specific RNA-binding protein that plays a role in regulating pre-mRNA splicing. It can either activate or repress exon inclusion. In conjunction with RBMX, TRA2B promotes the inclusion of exon 7 in the survival motor neuron SMN2 gene. It also activates the splicing of MAPT/Tau exon 10. TRA2B can modify pre-mRNA splicing patterns by counteracting the effects of other splicing regulators, such as RBMX. It binds to the AG-rich SE2 domain within the SMN exon 7 RNA and interacts directly with pre-mRNA.
TRA2B is also known as Htra2-beta, PPP1R156, SFRS10, SRFS10, TRA2-BETA, TRAN2B.
Associated Diseases
- microcephaly
- hypertriglyceridemia 2
- cholesterol-ester transfer protein deficiency
- hypoalphalipoproteinemia, primary, 1
- hyperlipidemia due to hepatic triglyceride lipase deficiency
- cancer
- homozygous familial hypercholesterolemia
