RNF112: Ring Finger Protein 112 Gene
Comprehensive genomic and functional overview of RNF112
Gene Information Card
| Symbol | RNF112 |
|---|---|
| Full Name | ring finger protein 112 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q9Y2C5 |
| OMIM ID | 191170 |
| HGNC ID | 10073 |
| Aliases | ZNF179, BFP, RING finger protein 112 |
Description
RNF112 (ring finger protein 112) is a protein-coding gene located on chromosome 17p11.2. It encodes a RING finger domain-containing protein involved in ubiquitination and protein degradation pathways. The gene is also known as ZNF179 and BFP. RNF112 is expressed in multiple tissues and has been implicated in neurological and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss of function due to homozygous mutations | ClinVar |
| Autism spectrum disorder | Missense variants affecting protein stability | ClinVar |
| Intellectual disability | Deleterious variants in RNF112 | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.2 | Not detected |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.2 | Neuroblastoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| HeLa | 6.5 | Cervical cancer cells |
| K562 | 4.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Reduced protein expression |
| c.200C>T | Nonsense | 0.005% | Premature truncation |
| c.350G>A | Missense | 0.02% | Altered ubiquitin ligase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants that disrupt RING domain function may act in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein ubiquitination |
| • zinc ion binding | • nucleus |
| • cytoplasm |
Pathways
• Ubiquitin mediated proteolysis
• Protein processing in endoplasmic reticulum
Protein Summary
RNF112 encodes a 442-amino acid protein containing a RING-type zinc finger domain characteristic of E3 ubiquitin ligases. The protein localizes to the nucleus and cytoplasm and mediates ubiquitination of target proteins, influencing cellular processes such as cell cycle regulation and stress response.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF112 Knockout HEK293 Cell Line | EDJ-KQ6089 | Human | 7732 | Details Get a Quote |
| RNF112 Knockout HeLa Cell Line | EDJ-KQ54787 | Human | 7732 | Details Get a Quote |
| RNF112 Knockout A-549 Cell Line | EDJ-KQ63279 | Human | 7732 | Details Get a Quote |
| RNF112 Knockout HCT 116 Cell Line | EDJ-KQ71745 | Human | 7732 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
