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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RBM42
RNA binding motif protein 42
Chromosome 19 · 19q13.12
NCBI Gene: 79171Ensembl: ENSG00000126254.13HGNC: HGNC:28117UniProt: Q9BTD8
71PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA bindingmRNA bindingnucleoplasmneurodegenerative diseaselysosomal storage diseaseasthmaneoplasm
✦AI Summary

RBM42 is an RNA-binding protein that functions as a critical regulator of both mRNA splicing and translation, with particular importance in oncogenic gene expression and developmental processes. Structurally, RBM42 contains an RNA recognition motif (RRM) domain that enables binding to the 3'-UTR and 5'-UTR regions of target mRNAs 1. Mechanistically, RBM42 operates through dual functions: it facilitates alternative splicing of target genes, particularly by counteracting splicing inhibitory effects of RBM4 1, and it remodels mRNA secondary structures to facilitate translation pre-initiation complex formation 2. As a ribosome-associated protein, RBM42 selectively regulates translation of specific pro-oncogenic transcripts including MYC, JUN, and EGFR in pancreatic ductal adenocarcinoma (PDAC) 3. Clinically, RBM42 expression predicts poor survival in PDAC patients and is necessary for tumorigenesis in vivo 3. Conversely, biallelic loss-of-function variants in RBM42 cause a multisystem neurodevelopmental disorder featuring CNS abnormalities, hearing loss, cardiac defects, and dysmorphic features, with evidence of impaired alternative splicing in neurological and cardiac tissues 4. RBM42 also participates in DNA damage response by regulating p21/CDKN1A expression 1. These findings establish RBM42 as both an oncogenic driver and developmental necessity, representing a potential therapeutic target.

Sources cited
1
RBM42 selectively regulates MYC translation by binding and remodeling the MYC 5'UTR, facilitating translation pre-initiation complex formation
PMID: 39905246
2
RBM42 is a ribosome-associated protein necessary for PDAC tumorigenesis and selective translation of MYC, JUN, and EGFR; highly expressed in PDAC predicting poor survival
PMID: 39416102
3
Biallelic RBM42 variants cause multisystem neurodevelopmental disorder with CNS, cardiac, and skeletal involvement; variants impair protein stability and alter alternative splicing
PMID: 37294900
4
RBM42 has dual roles in facilitating CDKN1A splicing by counteracting RBM4 and regulating CDKN1A translation during DNA damage response
PMID: 37993446
5
RBM42 binds MYC 5'UTR and remodels RNA structure to facilitate translation pre-initiation complex formation
PMID: 39416102
6
RBM42 interactions with 5'UTR motifs mediate MYC-driven changes in mRNA translation efficiency in lymphoma
PMID: 31142587
7
m6A modifications disrupt RNA binding by RBM42 and other stress granule proteins
PMID: 29140688
8
RBM42 dependency is associated with sensitivity to compounds that inhibit MYC translation through hnRNPK-mediated stress granule relocalization
PMID: 40943063
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
lysosomal storage diseaseOpen Targets
0.31Weak
asthmaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
punctate palmoplantar keratoderma type IIIOpen Targets
0.01Suggestive
hepatitis B virus infectionOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
lymphomaOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.00Suggestive
ThrombocytopeniaOpen Targets
0.00Suggestive
Au-Kline syndromeOpen Targets
0.00Suggestive
Neurodevelopmental delayOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Neurodevelopmental disorderOpen Targets
0.00Suggestive
pulmonary fibrosisOpen Targets
0.00Suggestive
colon adenocarcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GEMIN7Shared pathway100%PRPF3Protein interaction100%SNRPGProtein interaction100%LSM6Protein interaction100%LSM5Protein interaction100%SF3A2Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Ovary
95%
Liver
94%
Brain
59%
Bone Marrow
59%
Heart
48%
Gene Interaction Network
Click a node to explore
RBM42GEMIN7PRPF3SNRPGLSM6LSM5SF3A2
PROTEIN STRUCTURE
Preparing viewer…
PDB6QW6 · 2.92 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.39–0.81]
RankingsWhere RBM42 stands among ~20K protein-coding genes
  • #6,669of 20,598
    Most Researched71
  • #6,878of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedRBM42
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Functional screen identifies RBM42 as a mediator of oncogenic mRNA translation specificity.
PMID: 39905246
Nat Cell Biol · 2025
1.00
2
Functional screen for mediators of onco-mRNA translation specificity.
PMID: 39416102
bioRxiv · 2024
0.90
3
Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement.
PMID: 37294900
Protein Cell · 2024
0.80
4
A dual role of RBM42 in modulating splicing and translation of CDKN1A/p21 during DNA damage response.
PMID: 37993446
Nat Commun · 2023
0.70
5
c-Myc steers translation in lymphoma.
PMID: 31209069
J Exp Med · 2019
0.60