2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
protein bindingnucleoplasmU12-type spliceosomal complexspliceosome conformational change to release U4 (or U4atac) and U1 (or U11)neurodegenerative diseasetype 2 diabetes mellitusalcohol drinkingdiabetes mellitus
Based on limited published evidence, ZMAT5 is a zinc finger matrin-type protein localized to the nucleoplasm that functions as a component of the U12-type spliceosomal complex. It is positioned near the 5' end of U11 snRNA where it stabilizes binding of incoming 5' splice sites during U12-dependent intron recognition 1. ZMAT5 participates in mRNA splicing via spliceosome and spliceosomal conformational changes. A cancer-associated MGST3-ZMAT5 translocation was identified in oropharyngeal squamous cell carcinoma 2, though its biological significance remains unclear.
1
ZMAT5 is positioned near the 5' end of U11 snRNA and stabilizes binding of incoming U12-type 5' splice sites in the minor spliceosome
PMID: 398092722
A novel MGST3-ZMAT5 translocation was identified in oropharyngeal squamous cell carcinoma
PMID: 22807096β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
type 2 diabetes mellitusOpen Targets
alcohol drinkingOpen Targets
diabetes mellitusOpen Targets
ulcerative colitisOpen Targets
ankylosing spondylitisOpen Targets
sclerosing cholangitisOpen Targets
Crohn's diseaseOpen Targets
Fuchs endothelial corneal dystrophyOpen Targets
X-linked endothelial corneal dystrophyOpen Targets
granular corneal dystrophy type IOpen Targets
macular corneal dystrophyOpen Targets
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
granular corneal dystrophy type IIOpen Targets
Peters anomalyOpen Targets
ocular cystinosisOpen Targets
No pathogenic variants reported on ClinVar for this gene.