RBM8A

Chr 1AR

RNA binding motif protein 8A

Also known as: BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, RBM8B

NCBI Gene: 9939ENSG00000265241UniProt: Q9Y5S9

This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]

Primary Disease Associations & Inheritance

Thrombocytopenia-absent radius syndromeMIM #274000
AR
317
ClinVar variants
148
Pathogenic / LP
0.57
pLI score
0
Active trials
Clinical Summary— RBM8A
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.57) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
148 Pathogenic / Likely Pathogenic· 88 VUS of 317 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.56LOEUF
pLI 0.573
Z-score 2.54
OE 0.18 (0.07–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.16Z-score
OE missense 0.43 (0.34–0.55)
49 obs / 113.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.18 (0.07–0.56)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.43 (0.34–0.55)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.87
0≤1.21.6
LoF obs/exp: 2 / 11.2Missense obs/exp: 49 / 113.9Syn Z: 0.66

ClinVar Variant Classifications

317 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic127
Likely Pathogenic21
VUS88
Likely Benign60
Benign10
Conflicting4
127
Pathogenic
21
Likely Pathogenic
88
VUS
60
Likely Benign
10
Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
4
0
123
0
127
Likely Pathogenic
1
0
20
0
21
VUS
0
17
70
1
88
Likely Benign
0
1
40
19
60
Benign
0
0
10
0
10
Conflicting
—4
Total51826320310

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RBM8A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

RBM8A-related thrombocytopenia-absent radius syndrome

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersSkeletal
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Thrombocytopenia-absent radius syndrome

MIM #274000

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
RBM8A, a new target of TEAD4, promotes breast cancer progression by regulating IGF1R and IRS-2.
Li F et al.·J Transl Med
2024
Updated penetrance estimates for recurrent copy number variants - an improved definition and formula.
Goh S et al.·Eur J Hum Genet
2026
Whole Exome Sequencing Identifies Epithelial and Immune Dysfunction-Related Biomarkers in Food Protein-Induced Enterocolitis Syndrome.
Camino-Mera A et al.·Clin Exp Allergy
2024
High expression of RBM8A predicts poor patient prognosis and promotes tumor progression in hepatocellular carcinoma.
Liang R et al.·Oncol Rep
2017
A critical role of RBM8a in proliferation and differentiation of embryonic neural progenitors.
Zou D et al.·Neural Dev
2015
miR-29a regulates the proliferation and differentiation of retinal progenitors by targeting Rbm8a.
Zhang Y et al.·Oncotarget
2017
Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.
Monteiro C et al.·Int J Mol Sci
2022Case report
Prognostic value of increased expression of RBM8A in gastric cancer.
Lv X et al.·Braz J Med Biol Res
2020
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Boussion S et al.·Hum Mutat
2020Cohort
A case series review of patients with Thrombocytopenia and Absent-Radii syndrome (TARS) and their management during pregnancy.
Halperin D et al.·Platelets
2021Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools