RNF212B
Ring Finger Protein 212B, a meiotic recombination regulator
Gene Information Card
| Symbol | RNF212B |
|---|---|
| Full Name | ring finger protein 212B |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 100130502 ncbi.nlm.nih.gov/gene/100130502 |
| Ensembl ID | ENSG00000205571 |
| UniProt ID | A6NIK2 |
| OMIM ID | 618657 |
| HGNC ID | 37262 |
| Aliases | C14orf124, RNF212B |
Description
RNF212B (ring finger protein 212B) is a protein-coding gene located on chromosome 14q24.1. It encodes a RING finger domain-containing protein involved in meiotic recombination, likely functioning as an E3 ubiquitin ligase. The gene is expressed in testis and other tissues, and its orthologs in mouse are essential for crossover formation during meiosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (meiotic arrest) | Loss of RNF212B function disrupts crossover formation, leading to spermatogenic failure | OMIM 618657; PMID 32032550 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 3.2 | Low |
| Brain | 1.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.8 | Low expression |
| K562 | 0.3 | Not detected |
| HeLa | 0.6 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of function; associated with azoospermia |
| c.325C>T (p.Arg109Trp) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Homozygous loss-of-function variants cause meiotic arrest and male infertility.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • zinc ion binding |
| • meiotic cell cycle | • protein ubiquitination |
Pathways
• Meiotic recombination
Protein Summary
RNF212B is a 305-amino acid protein containing a RING-type zinc finger domain characteristic of E3 ubiquitin ligases. It localizes to meiotic chromosomes and is required for crossover formation. The protein interacts with other meiotic recombination factors such as MSH4 and MSH5.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF212B Knockout HEK293 Cell Line | EDJ-KQ15109 | Human | 100507650 | Details Get a Quote |
| RNF212B Knockout HeLa Cell Line | EDJ-KQ60928 | Human | 100507650 | Details Get a Quote |
| RNF212B Knockout A-549 Cell Line | EDJ-KQ69403 | Human | 100507650 | Details Get a Quote |
| RNF212B Knockout HCT 116 Cell Line | EDJ-KQ77754 | Human | 100507650 | Details Get a Quote |
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