RBM46: RNA Binding Motif Protein 46
A testis-specific RNA-binding protein implicated in spermatogenesis and male fertility
Gene Information Card
| Symbol | RBM46 |
|---|---|
| Full Name | RNA Binding Motif Protein 46 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q12 |
| NCBI Gene ID | 166863 ncbi.nlm.nih.gov/gene/166863 |
| Ensembl ID | ENSG00000164104 |
| UniProt ID | Q8N4W6 |
| OMIM ID | 617902 |
| HGNC ID | 26788 |
| Aliases | FLJ32440, MGC131831 |
Description
RBM46 encodes an RNA-binding motif protein that is predominantly expressed in the testis. It contains an RNA recognition motif (RRM) and is involved in post-transcriptional regulation during spermatogenesis. The protein is essential for male germ cell development and fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Loss of RBM46 disrupts spermatogenesis, leading to meiotic arrest and absence of mature sperm | ClinVar; PMID: 31586566 |
| Spermatogenic failure | Homozygous frameshift mutations in RBM46 cause meiotic arrest at the pachytene stage | OMIM #617902; PMID: 31586566 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 35.2 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Ovary | 0.3 | Low |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 12.5 | Testicular germ cell tumor model |
| HEK293 | 0.2 | Low expression |
| HeLa | 0.1 | Not significant |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1039_1040del (p.Gln347Valfs*3) | Frameshift | Rare | Loss of function; causes meiotic arrest |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop; loss of RNA-binding domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in RBM46 lead to truncated protein lacking functional RRM domain, resulting in loss of RNA-binding activity and impaired spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA binding (GO:0003729) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • spermatogenesis (GO:0007283) | • male gamete generation (GO:0048232) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
• mRNA surveillance pathway (KEGG: hsa03015)
Protein Summary
RBM46 is a 364-amino acid RNA-binding protein containing a single N-terminal RNA recognition motif (RRM). It localizes to the nucleus and cytoplasm of spermatocytes and is essential for meiotic progression. The protein binds specific mRNAs involved in synaptonemal complex formation and crossover recombination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM46 Knockout HEK293 Cell Line | EDJ-KQ15012 | Human | 166863 | Details Get a Quote |
| RBM46 Knockout HeLa Cell Line | EDJ-KQ58899 | Human | 166863 | Details Get a Quote |
| RBM46 Knockout A-549 Cell Line | EDJ-KQ67388 | Human | 166863 | Details Get a Quote |
| RBM46 Knockout HCT 116 Cell Line | EDJ-KQ75781 | Human | 166863 | Details Get a Quote |
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