RO60 Gene (Ro60, Y RNA Binding Protein)
Comprehensive genomic and functional analysis of RO60, a key component of the Ro ribonucleoprotein complex involved in RNA quality control and autoimmune disease.
Gene Information Card
| Symbol | RO60 |
|---|---|
| Full Name | Ro60, Y RNA Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1q31.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000117419 |
| UniProt ID | P10155 |
| OMIM ID | 600063 |
| HGNC ID | 10250 |
| Aliases | RO60, SSA2, Ro, RoRNP, TROVE2 |
Description
The RO60 gene encodes the Ro60 protein, a component of the Ro ribonucleoprotein complex that binds Y RNAs. Ro60 is involved in RNA quality control, particularly the recognition and degradation of misfolded non-coding RNAs. It is a major autoantigen in systemic autoimmune diseases, including Sjögren syndrome and systemic lupus erythematosus (SLE), where autoantibodies against Ro60 are commonly detected. The protein is also implicated in cellular stress responses and telomere maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sjögren Syndrome | Autoantibodies against Ro60 target the Ro ribonucleoprotein complex, contributing to immune-mediated destruction of exocrine glands. | ClinVar, OMIM |
| Systemic Lupus Erythematosus (SLE) | Anti-Ro60 antibodies are a serological marker; Ro60 may be exposed on apoptotic cells, triggering autoimmune response. | ClinVar, OMIM |
| Neonatal Lupus Erythematosus | Maternal anti-Ro60 antibodies cross the placenta and cause fetal heart block and skin lesions. | ClinVar, OMIM |
| Subacute Cutaneous Lupus Erythematosus | Anti-Ro60 antibodies are strongly associated with photosensitive skin lesions. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 10.2 | Medium |
| Heart | 8.9 | Low |
| Liver | 7.3 | Low |
| Kidney | 9.1 | Low |
| Spleen | 11.8 | Medium |
| Brain | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line; high expression |
| A549 | 13.7 | Lung carcinoma cell line; moderate-high |
| HEK293 | 11.2 | Embryonic kidney cells; moderate |
| K562 | 9.8 | Leukemia cell line; moderate |
| MCF7 | 8.5 | Breast cancer cell line; low-moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.01% | Altered RNA binding affinity; potential impact on autoantigenicity |
| c.456G>A (p.Glu152Lys) | Missense | <0.01% | Reported in SLE patients; may affect protein stability |
| c.789_790insA | Frameshift | <0.01% | Loss of function; rare in population databases |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt RNA binding are classified as loss-of-function, impairing RNA quality control.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for RO60.
Dominant Negative (DN)
Missense mutations that alter RNA binding without complete loss may act in a dominant-negative manner by sequestering Y RNAs or interacting partners.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • misfolded RNA binding |
| • protein binding | • cytoplasm |
| • nucleus | • Ro ribonucleoprotein complex |
| • RNA catabolic process | • response to stress |
Pathways
• Ro ribonucleoprotein complex assembly
• RNA surveillance
• Non-coding RNA metabolism
Protein Summary
Ro60 is a 60 kDa RNA-binding protein that forms a complex with Y RNAs (hY1, hY3, hY4, hY5). It recognizes misfolded or damaged non-coding RNAs and facilitates their degradation, thereby maintaining RNA homeostasis. Ro60 also interacts with the La protein and is involved in telomere maintenance. Structurally, it contains a von Willebrand factor type A (vWFA) domain and a RNA recognition motif (RRM). The protein is ubiquitously expressed but enriched in tissues with high secretory activity. Autoantibodies against Ro60 are a hallmark of Sjögren syndrome and SLE.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RO60 Knockout HEK293 Cell Line | EDJ-KQ15117 | Human | 6738 | Details Get a Quote |
| RO60 Knockout A-549 Cell Line | EDJ-KQ45708 | Human | 6738 | Details Get a Quote |
| RO60 Knockout HCT 116 Cell Line | EDJ-KQ45709 | Human | 6738 | Details Get a Quote |
| RO60 Knockout HeLa Cell Line | EDJ-KQ45710 | Human | 6738 | Details Get a Quote |
