SH3RF2 Gene (SH3 Domain Containing Ring Finger 2)
A ubiquitin ligase involved in cell signaling and potential tumor suppression.
Gene Information Card
| Symbol | SH3RF2 |
|---|---|
| Full Name | SH3 Domain Containing Ring Finger 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 153769 ncbi.nlm.nih.gov/gene/153769 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q8N5U6 |
| OMIM ID | 616998 |
| HGNC ID | 26299 |
| Aliases | HEL2, RNF158, POSH2, SH3MD4 |
Description
SH3RF2 (SH3 Domain Containing Ring Finger 2) encodes a protein that belongs to the SH3RF family of E3 ubiquitin ligases. The protein contains an N-terminal RING finger domain, which mediates ubiquitination, and multiple SH3 domains that facilitate protein-protein interactions. SH3RF2 is involved in regulating cell signaling pathways, including JNK and NF-κB, and may play a role in apoptosis, cell proliferation, and tumor suppression. It is also implicated in neuronal development and synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect ubiquitination of substrates, influencing cell survival and proliferation. | COSMIC, ClinVar |
| Neurodevelopmental disorders | Potential role in synaptic signaling; mutations may disrupt protein interactions. | OMIM, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 7.8 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| SH-SY5Y | 14.3 | Neuroblastoma cells |
| HeLa | 6.7 | Cervical cancer cells |
| MCF7 | 5.4 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Truncation, likely loss of function |
| c.567G>A (p.Glu189Lys) | Missense | <0.1% | Unknown functional effect |
| c.890_891insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of E3 ligase activity.
Gain of Function (GOF)
Not currently described in literature.
Dominant Negative (DN)
Not currently described in literature.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein ubiquitination |
| • zinc ion binding | • SH3 domain binding |
| • signal transduction | • apoptotic process |
| • JNK cascade |
Pathways
• JNK signaling pathway
• NF-κB signaling pathway
• Ubiquitin mediated proteolysis
Protein Summary
SH3RF2 is a 748-amino acid E3 ubiquitin ligase with a RING finger domain and three SH3 domains. It ubiquitinates target proteins, marking them for proteasomal degradation, and modulates signaling cascades such as JNK and NF-κB. The protein is expressed in multiple tissues, with highest levels in brain and testis. It may function as a tumor suppressor by promoting apoptosis and inhibiting cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH3RF2 Knockout HEK293 Cell Line | EDJ-KQ11538 | Human | 153769 | Details Get a Quote |
| SH3RF2 Knockout A-549 Cell Line | EDJ-KQ38527 | Human | 153769 | Details Get a Quote |
| SH3RF2 Knockout HCT 116 Cell Line | EDJ-KQ39862 | Human | 153769 | Details Get a Quote |
| SH3RF2 Knockout HeLa Cell Line | EDJ-KQ39863 | Human | 153769 | Details Get a Quote |
