RBM26

Chr 13

RNA binding motif protein 26

Also known as: ARRS2, C13orf10, PPP1R132, PRO1777, SE70-2, ZC3H17

NCBI Gene: 64062 ENSG00000139746 UniProt: Q5T8P6

The protein binds RNA and may be involved in the turnover of nuclear polyadenylated RNA. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.11), indicating intolerance to haploinsufficiency.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Predicted to be involved in RNA catabolic process. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.11

LOEUF· LoF intol.

LOF

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

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.11LOEUF

pLI 1.000

Z-score 6.71

OE 0.04 (0.01–0.11)

Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?

2.53Z-score

OE missense 0.69 (0.63–0.75)

358 obs / 520.3 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.04 (0.01–0.11)

0≤0.351.4

Missense OE?0.69 (0.63–0.75)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 2 / 56.3Missense obs/exp: 358 / 520.3Syn Z: -0.56

Background carrier burden — how many people carry a rare variant somewhere in RBM26?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 77

1,029 rare PASS variants

Rare truncating (LoF)

1 in 3,900

59 rare PASS variants

Rare synonymous (reference)

1 in 140

439 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RBM26. 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 80	1 in 5,000
South Asian	~43k	1 in 95	1 in 2,200
Remaining (unassigned)	~30k	1 in 78	1 in 2,200
European (Finnish)	~27k	1 in 240	1 in 3,300
Admixed American	~22k	1 in 75	≈ 1 in 11,000
African / African American	~21k	1 in 92	1 in 3,900
East Asian	~20k	1 in 79	1 in 2,400
Ashkenazi Jewish	~13k	1 in 230	none seen
Middle Eastern	~2,884	1 in 140	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): 13 of 22 coding exons well covered in gnomAD exomes; exons 1, 4, 10, 14, 16 and 4 more marginal. Genomes: 21 of 22 (exon 22 below).? see exons ↓