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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZMAT5
zinc finger matrin-type 5
Chromosome 22 Β· 22q12.2
NCBI Gene: 55954Ensembl: ENSG00000100319.14HGNC: HGNC:28046UniProt: Q9UDW3
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ 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
✦AI Summary

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.

Sources cited
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: 39809272
2
A novel MGST3-ZMAT5 translocation was identified in oropharyngeal squamous cell carcinoma
PMID: 22807096
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.53Moderate
type 2 diabetes mellitusOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.29Weak
diabetes mellitusOpen Targets
0.29Weak
radiculitisOpen Targets
0.23Weak
ulcerative colitisOpen Targets
0.09Suggestive
ankylosing spondylitisOpen Targets
0.09Suggestive
sclerosing cholangitisOpen Targets
0.09Suggestive
Crohn's diseaseOpen Targets
0.08Suggestive
psoriasisOpen Targets
0.08Suggestive
thyroiditisOpen Targets
0.06Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.06Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.05Suggestive
granular corneal dystrophy type IOpen Targets
0.05Suggestive
macular corneal dystrophyOpen Targets
0.05Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.05Suggestive
denturesOpen Targets
0.05Suggestive
granular corneal dystrophy type IIOpen Targets
0.05Suggestive
Peters anomalyOpen Targets
0.04Suggestive
ocular cystinosisOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
LSM7Protein interaction100%LSM10Protein interaction100%DDX23Protein interaction100%NCBP1Protein interaction99%PRPF39Protein interaction97%RBM41Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Brain
98%
Liver
82%
Lung
70%
Ovary
62%
Bone Marrow
41%
Gene Interaction Network
Click a node to explore
ZMAT5LSM7LSM10DDX23NCBP1PRPF39RBM41
PROTEIN STRUCTURE
Preparing viewer…
PDB9GCL Β· 3.00 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.33LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.94 [0.68–1.33]
RankingsWhere ZMAT5 stands among ~20K protein-coding genes
  • #13,352of 20,598
    Most Researched24
  • #13,977of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedZMAT5
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Structural basis of 5' splice site recognition by the minor spliceosome.
PMID: 39809272
Mol Cell Β· 2025
1.00
2
Search for chromosome rearrangements: new approaches toward discovery of novel translocations in head and neck squamous cell carcinoma.
PMID: 22807096
Head Neck Β· 2013
0.50