RNF32: Ring Finger Protein 32
A testis-enriched E3 ubiquitin ligase implicated in spermatogenesis and male fertility
Gene Information Card
| Symbol | RNF32 |
|---|---|
| Full Name | Ring Finger Protein 32 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q36.3 |
| NCBI Gene ID | 140545 ncbi.nlm.nih.gov/gene/140545 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | Q9H2K0 |
| OMIM ID | 610992 |
| HGNC ID | 16845 |
| Aliases | FLJ21106, MGC138290 |
Description
RNF32 (Ring Finger Protein 32) encodes a protein containing a RING-type zinc finger domain characteristic of E3 ubiquitin ligases. The gene is predominantly expressed in testis, particularly in spermatocytes and spermatids, and is involved in the ubiquitination pathway essential for spermatogenesis. RNF32 is thought to regulate protein turnover during male germ cell development, and mutations have been linked to non-obstructive azoospermia and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure (non-obstructive azoospermia) | Loss-of-function variants impair ubiquitin-mediated protein degradation during spermatogenesis, leading to meiotic arrest | ClinVar, OMIM |
| Male infertility | Disruption of RNF32 expression or function affects sperm maturation and motility | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 1.2 | Low |
| Prostate | 0.8 | Low |
| Ovary | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (primary) | 15.0 | Enriched in meiotic cells |
| Spermatids | 22.0 | Post-meiotic expression |
| Testicular somatic cells | 0.3 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/Start loss | Rare | Loss of protein initiation; associated with azoospermia |
| c.256C>T (p.Arg86Trp) | Missense | <0.01% | Alters RING domain; reduced ubiquitin ligase activity |
| c.487_489del (p.Lys163del) | In-frame deletion | <0.01% | Disrupts zinc finger structure; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and truncating variants in the RING domain impair E3 ligase activity, leading to defective spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; recessive inheritance pattern suggested.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein ubiquitination (Reactome: R-HSA-983168)
Protein Summary
RNF32 is a 305-amino acid protein with a conserved RING finger domain (C3HC4 type) at the N-terminus, which mediates E3 ubiquitin ligase activity. It localizes to the nucleus and cytoplasm of spermatogenic cells. The protein interacts with ubiquitin-conjugating enzymes (E2s) to facilitate substrate ubiquitination, targeting proteins for proteasomal degradation. RNF32 is essential for the progression of meiosis and spermatid maturation; its absence leads to accumulation of ubiquitinated substrates and germ cell apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF32 Knockout HEK293 Cell Line | EDJ-KQ9782 | Human | 140545 | Details Get a Quote |
| RNF32 Knockout A-549 Cell Line | EDJ-KQ36629 | Human | 140545 | Details Get a Quote |
| RNF32 Knockout HCT 116 Cell Line | EDJ-KQ36630 | Human | 140545 | Details Get a Quote |
| RNF32 Knockout HeLa Cell Line | EDJ-KQ58434 | Human | 140545 | Details Get a Quote |
