THUMP domain-containing protein 2 (THUMPD2)

THUMP domain-containing protein 2 (THUMPD2) is an RNA methyltransferase that forms a complex with TRMT112 to specifically catalyze the S-adenosylmethionine (SAM)–dependent N(2)-methylation of guanosine at position 72 (m²G72) in U6 small nuclear RNA (snRNA), a core component of the major spliceosome[1][2][3]. This post-transcriptional RNA modification is essential for efficient pre-mRNA splicing, particularly affecting introns with suboptimal splice sites, and impacts global mRNA processing in human cells[1][2][3]. Loss of THUMPD2-mediated U6 m²G72 methylation impairs splicing activity and can lead to widespread alternative splicing events, induction of nonsense-mediated decay, and is associated with retinal pathologies including age-related macular degeneration[1][2]. THUMPD2 is ubiquitously expressed in multiple cell types and tissues and operates mainly in the nucleus, consistent with its role in spliceosome function[1].

Other names

THUMP domain-containing protein 2C2orf8U6 snRNA (guanine-N(2))-methyltransferase THUMPD2SAM-dependent methyltransferaseMGC2454