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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RBMX
RNA binding motif protein X-linked
Chromosome X Β· Xq26.3
NCBI Gene: 27316Ensembl: ENSG00000147274.15HGNC: HGNC:9910UniProt: P38159
313PubMed Papers
22Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTumor Suppressor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membranesupraspliceosomal complexextracellular exosomemRNA bindingneurodegenerative diseasesevere X-linked intellectual disability, Gustavson typesyndromic X-linked intellectual disability Shashi typeX-linked intellectual disability, Shashi type
✦AI Summary

RBMX (RNA binding motif protein X-linked) is a nuclear RNA-binding protein that regulates multiple aspects of RNA processing and transcriptional control. The protein functions as a key splicing regulator, controlling alternative splicing of various pre-mRNAs and participating in supraspliceosome complexes 1. RBMX directly binds to RNA sequences and can either activate or suppress exon inclusion, demonstrating its dual regulatory capacity in splicing control 1. Beyond splicing, RBMX plays crucial roles in maintaining genomic stability by assembling ribonucleoprotein complexes, notably the NORAD-activated ribonucleoprotein complex 1 (NARC1) which contains topoisomerase I and other DNA repair proteins 2. The protein also functions as a transcriptional regulator, directly controlling CBX5 expression to maintain chrX state in myeloid leukemia cells 3. RBMX exhibits tissue-specific functions, with retroposed copies showing testis-specific expression patterns that may compensate for X-inactivation in male germ cells 4. Post-translational modifications, particularly SUMOylation, regulate RBMX function in exosomal miRNA sorting, impacting disease progression in diabetic kidney disease 5. In cancer contexts, RBMX can function as a tumor suppressor, inhibiting bladder cancer cell proliferation and glycolysis by downregulating PKM2 6, while also being implicated in chrX lymphocytic leukemia metabolism through circRNA regulation 7.

Sources cited
1
RBMX mutations cause deformed acrosome formation and the protein functions in splicing regulation
PMID: 39417902
2
RBMX affects circTET2 biogenesis and splicing process in chronic lymphocytic leukemia
PMID: 37821382
3
RBMX controls CBX5 transcription and maintains chromatin state in myeloid leukemia
PMID: 34458856
4
RBMX assembles the NARC1 ribonucleoprotein complex containing topoisomerase I for genome stability
PMID: 30150775
5
DeSUMOylation of RBMX regulates exosomal miRNA sorting in diabetic kidney disease
PMID: 39341454
6
RBMX family proteins contribute to splicing control, transcription and genome integrity
PMID: 30593955
7
RBMX is ubiquitously expressed, subject to X inactivation, with testis-specific retroposed copies
PMID: 11420617
8
RBMX overexpression inhibits bladder cancer cell proliferation and glycolysis by downregulating PKM2
PMID: 38293971
Disease Associationsβ“˜22
neurodegenerative diseaseOpen Targets
0.56Moderate
severe X-linked intellectual disability, Gustavson typeOpen Targets
0.54Moderate
syndromic X-linked intellectual disability Shashi typeOpen Targets
0.49Moderate
X-linked intellectual disability, Shashi typeOpen Targets
0.46Moderate
dengue diseaseOpen Targets
0.37Weak
coronary artery diseaseOpen Targets
0.28Weak
genetic disorderOpen Targets
0.19Weak
amyotrophic lateral sclerosisOpen Targets
0.10Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
leukemiaOpen Targets
0.08Suggestive
diabetic nephropathyOpen Targets
0.07Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.06Suggestive
hyperproinsulinemiaOpen Targets
0.06Suggestive
exercise-induced hyperinsulinismOpen Targets
0.05Suggestive
Intellectual developmental disorder, X-linked, syndromic, Gustavson typeUniProt
Intellectual developmental disorder, X-linked, syndromic, Shashi typeUniProt
Pathogenic Variants10
NM_002139.4(RBMX):c.478CCT[2] (p.Pro162del)Likely pathogenic
Severe X-linked intellectual disability, Gustavson type
β˜…β˜†β˜†β˜†2026β†’ Residue 162
NM_002139.4(RBMX):c.1063dup (p.Arg355fs)Likely pathogenic
RBMX-related disorder
β˜…β˜†β˜†β˜†2026β†’ Residue 355
NM_002139.4(RBMX):c.1141C>T (p.Arg381Ter)Likely pathogenic
RBMX-related disorder
β˜…β˜†β˜†β˜†2026β†’ Residue 381
NM_002139.4(RBMX):c.37G>C (p.Gly13Arg)Likely pathogenic
RBMX-related disorder
β˜…β˜†β˜†β˜†2026β†’ Residue 13
NM_002139.4(RBMX):c.166T>C (p.Phe56Leu)Likely pathogenic
RBMX-related disorder
β˜…β˜†β˜†β˜†2026β†’ Residue 56
NM_002139.4(RBMX):c.247_249del (p.Gln83del)Likely pathogenic
RBMX-related disorder
β˜…β˜†β˜†β˜†2026β†’ Residue 83
NM_002139.4(RBMX):c.1033C>T (p.Gln345Ter)Likely pathogenic
RBMX-related disorder
β˜…β˜†β˜†β˜†2026β†’ Residue 345
NM_002139.4(RBMX):c.1057_1058del (p.Met353fs)Likely pathogenic
RBMX-related disorder
β˜…β˜†β˜†β˜†2026β†’ Residue 353
NM_002139.4(RBMX):c.388G>T (p.Asp130Tyr)Likely pathogenic
Severe X-linked intellectual disability, Gustavson type
β˜…β˜†β˜†β˜†2024β†’ Residue 130
NM_002139.4(RBMX):c.1037_1059del (p.Glu346fs)Pathogenic
Syndromic X-linked intellectual disability Shashi type
β˜†β˜†β˜†β˜†2024β†’ Residue 346
View on ClinVar β†—
Related Genes
CDC5LProtein interaction100%HNRNPA3Protein interaction97%METTL3Protein interaction95%U2AF2Protein interaction95%SRSF1Protein interaction95%ERHProtein interaction94%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
79%
Brain
66%
Lung
45%
Heart
43%
Liver
31%
Gene Interaction Network
Click a node to explore
RBMXCDC5LHNRNPA3METTL3U2AF2SRSF1ERH
PROTEIN STRUCTURE
Preparing viewer…
PDB2MB0 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.16Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.03 [0.01–0.16]
RankingsWhere RBMX stands among ~20K protein-coding genes
  • #1,088of 20,598
    Most Researched313 Β· top 10%
  • #2,821of 5,498
    Most Pathogenic Variants10
  • #265of 17,882
    Most Constrained (LOEUF)0.16 Β· top 5%
Genes detectedRBMX
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet Β· 2024
1.00
2
m6A-Modified circTET2 Interacting with HNRNPC Regulates Fatty Acid Oxidation to Promote the Proliferation of Chronic Lymphocytic Leukemia.
PMID: 37821382
Adv Sci (Weinh) Β· 2023
0.90
3
Transcriptional control of CBX5 by the RNA binding proteins RBMX and RBMXL1 maintains chromatin state in myeloid leukemia.
PMID: 34458856
Nat Cancer Β· 2021
0.80
4
An anciently diverged family of RNA binding proteins maintain correct splicing of a class of ultra-long exons through cryptic splice site repression.
PMID: 39356106
Elife Β· 2024
0.72
5
The NORAD lncRNA assembles a topoisomerase complex critical for genome stability.
PMID: 30150775
Nature Β· 2018
0.70