GeneBe

RBM24

protein-coding

RNA binding motif protein 24, the group of RNA binding motif containing

Gene summary

Enables mRNA 3'-UTR AU-rich region binding activity; mRNA CDS binding activity; and sequence-specific mRNA binding activity. Involved in several processes, including negative regulation of cytoplasmic translation; positive regulation of cell differentiation; and regulation of mRNA metabolic process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:
  • RNPC6

MANE transcript

NM_001143942.2

Inheritance

—

ClinVar variants

U:30B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.35

Max pathogenic AF

—

Genomic locus

chr6:17,281,361-17,293,871

External References & Databases

Ensembl (ENSG00000112183)NCBI Gene (221662)OMIM (617603)HGNC:21539GenCCUniProt (Q9BX46)AlphaFoldClinVar (RBM24)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~12.5 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RBM24 variants in ClinVar

1 Conditions Cataloged
not specifiedTotal: 30

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001143942.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
 2
missense
29
clinvar
 29
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00301031
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001143942.2RefSeqNP_001137414.14MANE Select
ENST00000379052.10EnsemblENSP00000368341.54MANE Select
NM_001143941.1RefSeqNP_001137413.13Standard
NM_153020.2RefSeqNP_694565.13Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
rbm24bDanio rerio

Structure: skeletal muscle cell

Quality: loose

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • regulation of alternative mRNA splicing, via spliceosome
  • endocardial cushion development
  • mRNA processing
  • cellular response to DNA damage stimulus
  • RNA splicing

Molecular Function

  • RNA binding
  • mRNA binding
  • mRNA 3'-UTR binding
  • protein binding
  • mRNA 3'-UTR AU-rich region binding

Cellular Component

  • nucleus
  • nucleoplasm
  • cytosol
  • ribonucleoprotein complex

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000379052
Coding exons
4
Length
12530
Individuals with no LoFs
125318
Homozygous LoFs
0
Heterozygous LoFs
13
Defined
125331
p
0.0000519
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.50931440.6480.000007991485
Missense (PolyPhen)1332.3620.40171347
Synonymous0.3556063.60.9430.00000440514
Loss of Function1.7738.590.3493.63e-7105

Population LoF Frequency

PopulationCAFp-valueStatus
African0.0000640.000063rare
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish0.000520.00042rare
European (Non-Finnish)0.0000270.000018rare
South Asian00.0absent
Other0.000170.00016rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Multifunctional RNA-binding protein involved in the regulation of pre-mRNA splicing, mRNA stability and mRNA translation important for cell fate decision and differentiation (PubMed:20977548, PubMed:24375645, PubMed:29358667, PubMed:29104163). Plays a major role in pre-mRNA alternative splicing regulation (PubMed:26990106, PubMed:29104163). Mediates preferentially muscle-specific exon inclusion in numerous mRNAs important for striated cardiac and skeletal muscle cell differentiation (PubMed:29104163). Binds to intronic splicing enhancer (ISE) composed of stretches of GU-rich motifs localized in flanking intron of exon that will be included by alternative splicing (By similarity). Involved in embryonic stem cell (ESC) transition to cardiac cell differentiation by promoting pre-mRNA alternative splicing events of several pluripotency and/or differentiation genes (PubMed:26990106). Plays a role in the regulation of mRNA stability (PubMed:20977548, PubMed:24356969, PubMed:24375645, PubMed:29104163). Binds to 3'-untranslated region (UTR) AU-rich elements in target transcripts, such as CDKN1A and MYOG, leading to maintain their stabilities (PubMed:20977548, PubMed:24356969). Involved in myogenic differentiation by regulating MYOG levels (PubMed:20977548). Binds to multiple regions in the mRNA 3'-UTR of TP63 isoform 2, hence inducing its destabilization (PubMed:24375645). Promotes also the destabilization of the CHRM2 mRNA via its binding to a region in the coding sequence (PubMed:29104163). Plays a role in the regulation of mRNA translation (PubMed:29358667). Mediates repression of p53/TP53 mRNA translation through its binding to U- rich element in the 3'-UTR, hence preventing EIF4E from binding to p53/TP53 mRNA and translation initiation (PubMed:29358667). Binds to a huge amount of mRNAs (PubMed:29104163). Required for embryonic heart development, sarcomer and M-band formation in striated muscles (By similarity). {ECO:0000250|UniProtKB:D3Z4I3, ECO:0000269|PubMed:20977548, ECO:0000269|PubMed:24356969, ECO:0000269|PubMed:24375645, ECO:0000269|PubMed:26990106, ECO:0000269|PubMed:29104163, ECO:0000269|PubMed:29358667}.;

Recessive Scores

pRec
0.0772

Intolerance Scores

LoFtool
0.447
RVIS EVS
0.06
RVIS percentile EVS
58.26

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.307

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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