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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ZNHIT2
zinc finger HIT-type containing 2
Chromosome 11 · 11q13.1
NCBI Gene: 741Ensembl: ENSG00000174276.7HGNC: HGNC:1177UniProt: Q9UHR6
37PubMed Papers
12Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingneurodegenerative diseasehyperuricemiaMODYgout
✦AI Summary

ZNHIT2 is a zinc finger HIT-domain protein that functions as a critical assembly factor for the U5 small nuclear ribonucleoprotein (snRNP), a major component of the spliceosome. ZNHIT2 acts as a bridging factor mediating interactions between the R2TP/Prefoldin-like chaperone complex and U5 snRNP proteins 1. Structurally, ZNHIT2 contains a zinc finger HIT domain that coordinates two zinc ions via a CCCC-CCHC motif, adopting a novel treble clef fold distinct from other zinc finger domains 2. Mechanistically, ZNHIT2 directly binds the RUVBL1-RUVBL2 ATPases of the R2TP complex, facilitating interactions with U5 snRNP proteins including PRPF8, EFTUD2, and SNRNP200 13. Remarkably, ZNHIT2 binding alters the conformation and nucleotide state of the RUVBL1-RUVBL2 ATPases, regulating their catalytic activity 3. This regulation is essential for the HSP90/R2TP-mediated assembly and quality control of PRPF8, particularly during splicing factor maturation 4. Clinically, dysregulation of ZNHIT2 has emerging relevance in soft tissue sarcoma, where it was incorporated into progression-free survival prediction models 5. Additionally, ZNHIT2 expression correlates with thermal stress responses in human skin 6. The precise molecular mechanisms underlying ZNHIT2's disease associations require further investigation.

Sources cited
1
ZNHIT2 mediates R2TP/PFDL interaction with U5 snRNP and regulates U5 snRNP protein composition
PMID: 28561026
2
ZNHIT2 forms a complex with RUVBL1-RUVBL2 and alters their conformation and ATPase activity during PRPF8 biogenesis
PMID: 34951455
3
ZNHIT2 acts as an HSP90/R2TP cofactor required for PRPF8 assembly and quality control in U5 snRNP
PMID: 28515276
4
ZNHIT2 zinc finger HIT domain adopts a treble clef fold coordinating two zinc ions via CCCC-CCHC motif
PMID: 17656577
5
ZNHIT2 is included in progression-free survival prediction models for soft tissue sarcoma
PMID: 37100454
6
ZNHIT2 expression correlates negatively with skin surface temperature during infrared-A irradiation
PMID: 40482318
Disease Associationsⓘ12
neurodegenerative diseaseOpen Targets
0.37Weak
hyperuricemiaOpen Targets
0.11Weak
MODYOpen Targets
0.04Suggestive
goutOpen Targets
0.04Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.04Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.03Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.03Suggestive
infectionOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
acute lymphoblastic leukemiaOpen Targets
0.00Suggestive
endometriosisOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RUVBL1Protein interaction100%RUVBL2Protein interaction100%PRPF8Protein interaction93%AAR2Protein interaction92%TM7SF2Protein interaction90%TSSC4Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Ovary
51%
Lung
46%
Brain
35%
Bone Marrow
20%
Heart
20%
Gene Interaction Network
Click a node to explore
ZNHIT2RUVBL1RUVBL2PRPF8AAR2TM7SF2TSSC4
PROTEIN STRUCTURE
Preparing viewer…
PDB1X4S · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.77LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.30 [0.95–1.77]
RankingsWhere ZNHIT2 stands among ~20K protein-coding genes
  • #10,728of 20,598
    Most Researched37
  • #16,446of 17,882
    Most Constrained (LOEUF)1.77
Genes detectedZNHIT2
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
CryoEM of RUVBL1-RUVBL2-ZNHIT2, a complex that interacts with pre-mRNA-processing-splicing factor 8.
PMID: 34951455
Nucleic Acids Res · 2022
1.00
2
R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein.
PMID: 28561026
Nat Commun · 2017
0.86
3
Development and validation of novel prognostic models for zinc finger proteins-related genes in soft tissue sarcoma.
PMID: 37100454
Aging (Albany NY) · 2023
0.71
4
Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones.
PMID: 28515276
J Cell Biol · 2017
0.57
5
Infrared-A (IR-A) modulates the p53 pathway and diurnal clock in human skin and subcutaneous adipose tissue in vivo.
PMID: 40482318
J Photochem Photobiol B · 2025
0.43