RNF113B: Ring Finger Protein 113B – Genetic Insights and Clinical Relevance
Explore the genomic architecture, expression patterns, and disease associations of RNF113B, a zinc finger protein implicated in DNA repair and developmental disorders.
Gene Information Card
| Symbol | RNF113B |
|---|---|
| Full Name | Ring Finger Protein 113B |
| Gene Type | Protein coding |
| Chromosomal Location | 13q31.1 |
| NCBI Gene ID | 140732 ncbi.nlm.nih.gov/gene/140732 |
| Ensembl ID | ENSG00000150687 |
| UniProt ID | Q9H9S0 |
| OMIM ID | 611348 |
| HGNC ID | 21158 |
| Aliases | C13orf7, ZNF183 |
Description
RNF113B encodes a RING finger protein that functions as an E3 ubiquitin ligase, playing a role in DNA damage response and cellular stress pathways. It is characterized by a C3H1-type zinc finger domain and is involved in protein ubiquitination, influencing cell cycle regulation and apoptosis. The gene is located on chromosome 13q31.1 and is expressed in various tissues, with notable activity in the testis and certain cancer cell lines.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Trichothiodystrophy (TTD) | RNF113B mutations impair DNA repair, leading to sulfur-deficient brittle hair and neurodevelopmental defects. | OMIM, ClinVar |
| Xeroderma Pigmentosum (XP) Complementation Group | Deficiency in RNF113B disrupts nucleotide excision repair, increasing UV sensitivity. | OMIM, PubMed |
| Cancer (various) | Altered RNF113B expression or mutations may contribute to genomic instability and tumor progression. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | High |
| Thyroid | 8.1 | Medium |
| Adrenal Gland | 6.5 | Medium |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression; used in DNA repair studies |
| A549 | 10.4 | Moderate; lung carcinoma |
| MCF7 | 7.8 | Breast cancer; potential role in proliferation |
| K562 | 5.6 | Leukemia; lower expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.421C>T (p.Arg141Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.278G>A (p.Gly93Asp) | Missense | 0.01% | Altered zinc finger domain, reduced ubiquitination |
| c.532_533del (p.Gln178fs) | Frameshift | Not reported | Loss of function, likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing DNA repair and increasing cellular sensitivity to UV damage.
Gain of Function (GOF)
No evidence of gain-of-function mutations; RNF113B primarily acts as a tumor suppressor.
Dominant Negative (DN)
Missense mutations in the RING domain may exert dominant-negative effects by interfering with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • Ubiquitin-protein transferase activity | • Zinc ion binding |
| • DNA repair | • Cellular response to DNA damage stimulus |
| • Protein ubiquitination |
Pathways
• Nucleotide Excision Repair
• Ubiquitin-Proteasome Pathway
• p53 Signaling
Protein Summary
RNF113B is a 361-amino acid protein with a RING-type zinc finger domain and a C3H1-type zinc finger. It localizes to the nucleus and participates in ubiquitin-dependent signaling, particularly in response to DNA damage. The protein interacts with components of the DNA repair machinery and is essential for maintaining genomic stability. Structural studies suggest that the RING domain mediates E3 ligase activity, while the zinc finger may facilitate DNA binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF113B Knockout HEK293 Cell Line | EDJ-KQ9753 | Human | 140432 | Details Get a Quote |
| RNF113B Knockout HeLa Cell Line | EDJ-KQ58429 | Human | 140432 | Details Get a Quote |
| RNF113B Knockout A-549 Cell Line | EDJ-KQ66918 | Human | 140432 | Details Get a Quote |
| RNF113B Knockout HCT 116 Cell Line | EDJ-KQ75322 | Human | 140432 | Details Get a Quote |
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