RBPMS2

Chr 15

RNA binding protein, mRNA processing factor 2

NCBI Gene: 348093 ENSG00000166831 UniProt: Q6ZRY4 OMIM: 619034

The protein encoded by this gene is a member of the RNA recognition motif (RRM)-containing protein family and is involved in the development and dedifferentiation of digestive smooth muscle cells. The encoded protein functions as a homodimer and indirectly inhibits the bone morphogenetic protein pathway. [provided by RefSeq, Aug 2016]

OMIM Research

OMIM 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

0.42

LOEUF

LOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.42LOEUF

pLI 0.877

Z-score 2.83

OE 0.09 (0.03–0.42)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.94Z-score

OE missense 0.76 (0.64–0.90)

91 obs / 119.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.09 (0.03–0.42)

0≤0.351.4

Missense OE?0.76 (0.64–0.90)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 1 / 11.2Missense obs/exp: 91 / 119.9Syn Z: -0.71

Background carrier burden — how many people carry a rare variant somewhere in RBPMS2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 260

279 rare PASS variants

Rare truncating (LoF)

1 in 16,000

30 rare PASS variants

Rare synonymous (reference)

1 in 380

135 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RBPMS2. 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 350	1 in 23,000
South Asian	~43k	1 in 160	1 in 6,700
Remaining (unassigned)	~30k	1 in 210	none seen
European (Finnish)	~27k	1 in 1,900	≈ 1 in 12,000
Admixed American	~22k	1 in 210	≈ 1 in 22,000
African / African American	~21k	1 in 220	≈ 1 in 5,900
East Asian	~20k	1 in 250	≈ 1 in 9,800
Ashkenazi Jewish	~13k	1 in 910	none seen
Middle Eastern	~2,884	1 in 160	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): 6 of 7 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 7.? see exons ↓