UHRF2
Ubiquitin-like with PHD and Ring Finger Domains 2
Gene Information Card
| Symbol | UHRF2 |
|---|---|
| Full Name | Ubiquitin-like with PHD and Ring Finger Domains 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p24.1 |
| NCBI Gene ID | 115426 ncbi.nlm.nih.gov/gene/115426 |
| Ensembl ID | ENSG00000106868 |
| UniProt ID | Q96PU4 |
| OMIM ID | 610679 |
| HGNC ID | 12563 |
| Aliases | NIRF, RNF107, URF2, ICBP90 |
Description
UHRF2 encodes a multi-domain protein that belongs to the UHRF family, characterized by an N-terminal ubiquitin-like domain, a PHD finger, a SET and RING finger-associated (SRA) domain, and a C-terminal RING finger domain. The protein functions as an E3 ubiquitin ligase and plays a key role in epigenetic regulation by recognizing hemi-methylated DNA and recruiting DNA methyltransferase 1 (DNMT1) to replication foci. UHRF2 is involved in cell cycle progression, DNA damage response, and chromatin remodeling. It is widely expressed in various tissues and is implicated in cancer and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of UHRF2 expression alters DNA methylation patterns and cell cycle control, promoting tumorigenesis. | NCBI Gene, COSMIC |
| Neurodevelopmental disorders | Mutations in UHRF2 may disrupt epigenetic programming during brain development. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.7 | Medium |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 11.8 | Moderate expression |
| A549 | 9.4 | Moderate expression |
| MCF7 | 7.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.567G>A (p.Glu189Lys) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to result in loss of E3 ubiquitin ligase activity and impaired epigenetic regulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • zinc ion binding |
| • ubiquitin protein ligase activity | • chromatin binding |
| • methylated histone binding | • nucleus |
| • cytoplasm | • cell cycle |
| • DNA methylation | • protein ubiquitination |
Pathways
• DNA methylation
• Cell cycle
• Ubiquitin-proteasome pathway
Protein Summary
The UHRF2 protein (UniProt Q96PU4) is a 802-amino acid multidomain protein that acts as an E3 ubiquitin ligase. It contains an N-terminal ubiquitin-like domain, a PHD finger that recognizes histone H3 tails, an SRA domain that binds hemi-methylated DNA, and a C-terminal RING finger domain responsible for ubiquitin transfer. UHRF2 is essential for maintaining DNA methylation patterns during replication and for regulating cell cycle progression. Its expression is tightly controlled, and alterations are linked to cancer and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UHRF2 Knockout HEK293 Cell Line | EDJ-KQ1130 | Human | 115426 | Details Get a Quote |
| UHRF2 Knockout A-549 Cell Line | EDJ-KQ18987 | Human | 115426 | Details Get a Quote |
| UHRF2 Knockout HCT 116 Cell Line | EDJ-KQ20334 | Human | 115426 | Details Get a Quote |
| UHRF2 Knockout HeLa Cell Line | EDJ-KQ20335 | Human | 115426 | Details Get a Quote |
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