Recombinant Human Serine/arginine repetitive matrix protein 2 (SRRM2), partial

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)

Subcellular Location

Nucleus; Nucleus speckle

Disease Association

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. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed in liver, placenta, and white blood cells

Subunit

Component of pre-catalytic, catalytic and post-catalytic spliceosome complexes (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30705154). Found in a pre-mRNA splicing complex with SFRS4, SFRS5, SNRP70, SNRPA1, SRRM1 and SRRM2 (PubMed:9531537). Component of the minor spliceosome, which splices U12-type introns (PubMed:33509932). Interacts with DHX8 (PubMed:28062851). Interacts with CACTIN (PubMed:28062851)

• Sawada Y. et al. Cloning and characterization of a novel RNA-binding protein SRL300 with RS domains. — Biochim. Biophys. Acta (2000)
• Blencowe B.J. et al. The SRm160/300 splicing coactivator subunits. — RNA (2000)
• Nagase T. et al. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. — DNA Res. (1997)
• Martin J. et al. The sequence and analysis of duplication-rich human chromosome 16. — Nature (2004)
• Mural R.J. et al. PubMed: CI-5GBD0VIIJ7C63 (SEP-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Bienvenut W.V. et al. PubMed: CI-DPVDG93G6186J (JUL-)
• Ye M. et al. Human partial CDS from CD34+ stem cells. (MAY-)