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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RBM27
RNA binding motif protein 27
Chromosome 5 · 5q32
NCBI Gene: 54439Ensembl: ENSG00000091009.9HGNC: HGNC:29243UniProt: Q9P2N5
114PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingnucleusnucleoplasmRNA catabolic processneurodegenerative diseasemathematical abilityautisminjury
✦AI Summary

RBM27 is an RNA-binding protein functioning as a critical regulator of nuclear RNA metabolism and neurodevelopmental processes. Mechanistically, RBM27 operates within the PAXT (Poly(A) Tail eXosome Targeting) complex, a nuclear RNA degradation pathway 1. It associates with core PAXT components including MTR4, ZFC3H1, and PABPN1 to facilitate recruitment of the RNA exosome to polyadenylated RNA substrates 12. RBM27 also participates in pre-mRNA splicing regulation, where PABPN1 recruits RBM26/27 to promote terminal intron splicing through interactions with the coiled-coil and RRM domains of RBM27 3. Beyond RNA processing, RBM27's ortholog RBM-26 in C. elegans negatively regulates expression of MALS-1, a mitoribosomal assembly factor, protecting against mitochondrial dysfunction and axon degeneration during neurodevelopment 4. Autism-associated missense variants in RBM27 reduce protein expression and cause axonal defects through dysregulation of MALS-1 4, suggesting RBM27's relevance to neurodevelopmental disorders. In cancer contexts, RBM27 is upregulated in glioblastoma and associates with altered immune microenvironment composition 5, and alternative RBM27 isoforms are detected in hepatocellular carcinoma 6. These findings establish RBM27 as a multifunctional RNA regulator with implications for both normal development and disease pathogenesis.

Sources cited
1
RBM27 is recruited by PABPN1 to regulate terminal intron splicing, interacting through its coiled-coil and RRM domains
PMID: 37661812
2
RBM27 is a component of the PAXT complex involved in targeting nuclear RNAs for degradation
PMID: 37875486
3
RBM27 ortholog RBM-26 protects against mitochondrial dysfunction and axon degeneration by negatively regulating MALS-1 mitoribosomal assembly factor; autism-associated variants impair this function
PMID: 39480871
4
RBM27 is a critical PAXT component required for nuclear polyadenylated RNA decay alongside MTR4, ZFC3H1, ZC3H3, and PABPN1
PMID: 31950173
5
RBM27 is upregulated in glioblastoma and associated with altered immune microenvironment composition
PMID: 37606566
6
RBM27 alternative splice variants are expressed in hepatocellular carcinoma as tumor-specific isoforms
PMID: 30637779
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
mathematical abilityOpen Targets
0.05Suggestive
autismOpen Targets
0.03Suggestive
injuryOpen Targets
0.02Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
acute quadriplegic myopathyOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
breast neoplasmOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPP1R8Shared pathway100%ZC3H3Shared pathway100%STK31Shared pathway100%RBM26Shared pathway75%ZFC3H1Protein interaction69%RNASEH2BShared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
54%
Heart
41%
Ovary
41%
Liver
31%
Lung
31%
Gene Interaction Network
Click a node to explore
RBM27PPP1R8ZC3H3STK31RBM26ZFC3H1RNASEH2B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9P2N5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.11–0.23]
RankingsWhere RBM27 stands among ~20K protein-coding genes
  • #4,165of 20,598
    Most Researched114 · top quartile
  • #659of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedRBM27
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
The polyA tail facilitates splicing of last introns with weak 3' splice sites via PABPN1.
PMID: 37661812
EMBO Rep · 2023
1.00
2
PAPγ associates with PAXT nuclear exosome to control the abundance of PROMPT ncRNAs.
PMID: 37875486
Nat Commun · 2023
0.88
3
Ortholog of autism candidate gene RBM27 regulates mitoribosomal assembly factor MALS-1 to protect against mitochondrial dysfunction and axon degeneration during neurodevelopment.
PMID: 39480871
PLoS Biol · 2024
0.75
4
Exploring the role of m6A methylation regulators in glioblastoma multiforme and their impact on the tumor immune microenvironment.
PMID: 37606566
FASEB J · 2023
0.63
5
The human ZC3H3 and RBM26/27 proteins are critical for PAXT-mediated nuclear RNA decay.
PMID: 31950173
Nucleic Acids Res · 2020
0.50