SRRM2
Function
Required for pre-mRNA splicing as component of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable).
Involvement in disease
Intellectual developmental disorder, autosomal dominant 72
MRD72
An autosomal dominant disorder characterized by mild developmental delay and intellectual disability, predominant speech delay, autistic or attention deficit-hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight, and dysmorphic facial features.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CWC21 family.
Tissue Specificity
Expressed in liver, placenta, and white blood cells.
Cellular localization
- Nucleus
- Nucleus speckle
Alternative names
KIAA0324, SRL300, SRM300, HSPC075, SRRM2, Serine/arginine repetitive matrix protein 2, 300 kDa nuclear matrix antigen, Serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa, Splicing coactivator subunit SRm300, Tax-responsive enhancer element-binding protein 803, SR-related nuclear matrix protein of 300 kDa, Ser/Arg-related nuclear matrix protein of 300 kDa, TaxREB803