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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RBM41
RNA binding motif protein 41
Chromosome X Β· Xq22.3
NCBI Gene: 55285Ensembl: ENSG00000089682.18HGNC: HGNC:25617UniProt: A0A8I5KYC8
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmRNA splicing, via spliceosomeU12-type spliceosomal complexU12 snRNA bindingalcoholic pancreatitisosteoarthritis, kneemedical procedureosteoarthritis, hip
✦AI Summary

Based on limited published evidence, RBM41 is a minor spliceosomal protein that binds to the 3'-terminal stem-loop of U12 and U6atac snRNAs via its C-terminal RNA recognition motifs 1. RBM41 functions in post-splicing steps of minor spliceosome assembly/disassembly, associating with excised U12-type intron lariats and the U12 mono-snRNP, with enrichment in Cajal bodies 1. Its unique N-terminal domain enables interaction with DHX8, an RNA helicase involved in mRNA release 1. RBM41 knockout cells remain viable but display altered U12-type 3' splice site usage, contrasting functionally with its paralog U11/U12-65K, which functions in intron recognition 1.

Sources cited
1
RBM41 is a novel minor spliceosomal protein binding U12/U6atac snRNAs and functioning in post-splicing assembly/disassembly with DHX8 interaction
PMID: 38499487
2
RBM41 is a paralog of Miso/CG44249, which is critical for minor intron splicing during oogenesis
PMID: 40169226
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
alcoholic pancreatitisOpen Targets
0.04Suggestive
osteoarthritis, kneeOpen Targets
0.04Suggestive
medical procedureOpen Targets
0.02Suggestive
osteoarthritis, hipOpen Targets
0.02Suggestive
chronic pancreatitisOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
cerebellar ataxiaOpen Targets
0.00Suggestive
osteosarcomaOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
pancreatic adenocarcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
HNRNPA1L3Shared pathway100%RBMXL1Shared pathway100%RBMY1EShared pathway100%RBMY1DShared pathway100%RBM44Shared pathway100%HNRNPA3Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
78%
Liver
63%
Ovary
51%
Lung
45%
Brain
37%
Gene Interaction Network
Click a node to explore
RBM41HNRNPA1L3RBMXL1RBMY1ERBMY1DRBM44HNRNPA3
PROTEIN STRUCTURE
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PDB2CPX Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.08Tolerant
Observed/Expected LoF0.45 [0.30–0.71]
RankingsWhere RBM41 stands among ~20K protein-coding genes
  • #13,989of 20,598
    Most Researched21
  • #5,442of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedRBM41
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
RNA-binding protein Miso/CG44249 is crucial for minor splicing during oogenesis in
PMID: 40169226
RNA Β· 2025
1.00
2
Distinct functions for the paralogous RBM41 and U11/U12-65K proteins in the minor spliceosome.
PMID: 38499487
Nucleic Acids Res Β· 2024
0.50