SRRM2

Chr 16AD

serine/arginine repetitive matrix 2

Required for pre-mRNA splicing as component of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)

OMIMResearchGenerating clinical summary…
LOFmechanismADLOEUF 0.121 OMIM phenotype
Clinical SummarySRRM2
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.12LOEUF
pLI 1.000
Z-score 9.17
OE 0.06 (0.040.12)
Highly constrained

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

Missense Constraint?
-6.28Z-score
OE missense 1.43 (1.381.48)
2410 obs / 1684.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.06 (0.040.12)
00.351.4
Missense OE?1.43 (1.381.48)
00.61.4
Synonymous OE?1.67
01.21.6
LoF obs/exp: 7 / 111.4Missense obs/exp: 2410 / 1684.4Syn Z: -13.16
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveSRRM2-related developmental disorderLOFAD

This gene — mechanism propensity

DN
0.2698th %ile
GOF
0.2696th %ile
LOF
0.79top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.12 · ClinGen HI: Sufficient evidence for dosage pathogenicity

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SRRM2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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