SMIM11

Chr 21

small integral membrane protein 11

Also known as: C21orf51, FAM165B, SMIM11A, SMIM11B

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
DNmechanismLOEUF 0.95
Clinical SummarySMIM11
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.62) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.95LOEUF
pLI 0.623
Z-score 1.63
OE 0.00 (0.000.95)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
0.12Z-score
OE missense 0.93 (0.681.31)
24 obs / 25.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.000.95)
00.351.4
Missense OE?0.93 (0.681.31)
00.61.4
Synonymous OE?0.87
01.21.6
LoF obs/exp: 0 / 3.1Missense obs/exp: 24 / 25.7Syn Z: 0.32

This gene — mechanism propensity

DN
0.74top 25%
GOF
0.4972th %ile
LOF
0.3648th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SMIM11 · 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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