RNU4-2

Date of Report

Dec 05, 2024

Full Name

RNA, U4 Small Nuclear 2

Location
Chromosome 12 (12q24.23)
RNU4-2-ideogram.png

Function

The RNU4-2 gene is predicted to enable U6 snRNA binding activity, participate in quadruple snRNA and spliceosomal tri-SNP complex assembly, and be part of the U4 snRNP and U4/U6 x U5 tri-snRNP complexes [Alliance of Genome Resources, Nov 2024].

Database Links

GeneCards: RNU4-2

NCBI Gene: 26834

OMIM: 620823

Clinical Significance

A de novo heterozygous change in this gene was identified in a UDN participant.

Gene RNU4-2
Inheritance Pattern de novo
Position (hg19) chr12:g.120729642T>C
Transcript NR_003137.2
DNA Change n.65A>G
Protein Change N/A
Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!

Top