RBM4B

Chr 11

RNA binding motif protein 4B

Also known as: RBM30, RBM4L, ZCCHC15, ZCCHC21B, ZCRB3B

NCBI Gene: 83759 ENSG00000173914 UniProt: Q9BQ04

RBM4B encodes an RNA-binding protein that binds directly to PER1 mRNA and is required for its translational activation in response to circadian clock signals. The gene shows low constraint to loss-of-function variation (pLI 0.024, LOEUF 0.769), and no definitive human disease associations have been established for this gene. Currently, there is insufficient evidence to determine specific inheritance patterns or clinical phenotypes associated with RBM4B mutations.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Predicted to be involved in entrainment of circadian clock by photoperiod and regulation of gene expression. Predicted to act upstream of or within positive regulation of gene expression. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.77

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.77LOEUF

pLI 0.024

Z-score 2.17

OE 0.37 (0.19–0.77)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.67Z-score

OE missense 0.87 (0.78–0.98)

195 obs / 223.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.37 (0.19–0.77)

0≤0.351.4

Missense OE?0.87 (0.78–0.98)

0≤0.61.4

Synonymous OE?1.19

0≤1.21.6

LoF obs/exp: 5 / 13.7Missense obs/exp: 195 / 223.2Syn Z: -1.34

Background carrier burden — how many people carry a rare variant somewhere in RBM4B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

450 rare PASS variants

Rare truncating (LoF)

1 in 2,400

51 rare PASS variants

Rare synonymous (reference)

1 in 280

201 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RBM4B. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 120	1 in 3,100
South Asian	~43k	1 in 140	1 in 900
Remaining (unassigned)	~30k	1 in 120	1 in 3,800
European (Finnish)	~27k	1 in 410	1 in 930
Admixed American	~22k	1 in 130	≈ 1 in 6,800
African / African American	~21k	1 in 130	1 in 2,900
East Asian	~20k	1 in 160	≈ 1 in 4,500
Ashkenazi Jewish	~13k	1 in 2,600	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 180	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓