DISEASES

Disease-gene associations mined from literature

Literature associating TRA2B and frontotemporal dementia

TRA2B [ENSP00000416959]

Splicing factor, arginine/serine-rich 10; Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Can either activate or suppress exon inclusion. Acts additively with RBMX to promote exon 7 inclusion of the survival motor neuron SMN2. Activates the splicing of MAPT/Tau exon 10. Alters pre-mRNA splicing patterns by antagonizing the effects of splicing regulators, like RBMX. Binds to the AG-rich SE2 domain in the SMN exon 7 RNA. Binds to pre- mRNA; Belongs to the splicing factor SR family.

Synonyms:  TRA2B,  TRA2Bp,  hTRA2B,  P62995,  P62995p ...

Linkouts:  STRING  Pharos  UniProt  OMIM