RBM44: RNA Binding Motif Protein 44
A testis-enriched RNA-binding protein with potential roles in spermatogenesis and male fertility
Gene Information Card
| Symbol | RBM44 |
|---|---|
| Full Name | RNA Binding Motif Protein 44 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.2 |
| NCBI Gene ID | 285965 ncbi.nlm.nih.gov/gene/285965 |
| Ensembl ID | ENSG00000163083 |
| UniProt ID | Q8N4P3 |
| OMIM ID | 617549 |
| HGNC ID | 26117 |
| Aliases | FLJ32421, MGC131831 |
Description
RBM44 (RNA Binding Motif Protein 44) is a protein-coding gene located on chromosome 2q31.2. It encodes a protein containing an RNA recognition motif (RRM), suggesting a role in RNA processing. Expression data indicate predominant enrichment in testis, with potential involvement in spermatogenesis. Limited functional studies exist, but the gene is conserved in mammals.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | RBM44 is expressed in testis and may be required for normal spermatogenesis; loss-of-function variants could impair RNA processing in germ cells. | Limited; inferred from expression and homology (no direct ClinVar pathogenic variants as of 2025). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 2.1 | Low |
| Prostate | 1.8 | Low |
| Ovary | 1.5 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.2 | Testicular germ cell tumor model |
| HEK 293 | 0.8 | Low expression |
| HeLa | 0.5 | Not significant |
| K562 | 0.3 | Not significant |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense (start loss) | <0.01% (gnomAD) | Predicted loss of translation initiation |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Predicted for start-loss and nonsense variants; no confirmed pathogenic LOF reported.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • nucleus (GO:0005634) |
| • mRNA processing (GO:0006397) |
Pathways
• mRNA surveillance pathway (Reactome: R-HSA-72163)
Protein Summary
The RBM44 protein (UniProt Q8N4P3) contains a single N-terminal RNA recognition motif (RRM) and a C-terminal region rich in proline and glutamine. It is predicted to localize to the nucleus and participate in RNA metabolism. Expression is highly testis-specific, suggesting a specialized role in male germ cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM44 Knockout HEK293 Cell Line | EDJ-KQ15011 | Human | 375316 | Details Get a Quote |
| RBM44 Knockout HeLa Cell Line | EDJ-KQ59919 | Human | 375316 | Details Get a Quote |
| RBM44 Knockout A-549 Cell Line | EDJ-KQ68381 | Human | 375316 | Details Get a Quote |
| RBM44 Knockout HCT 116 Cell Line | EDJ-KQ76760 | Human | 375316 | Details Get a Quote |
