SMIM22

Chr 16

small integral membrane protein 22

Also known as: CASIMO1

NCBI Gene: 440335ENSG00000267795UniProt: K7EJ46

Involved in several processes, including lipid droplet formation; positive regulation of cell migration; and regulation of actin cytoskeleton organization. Predicted to be located in late endosome and membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.95
LOEUF
Multiple*
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?
1.95LOEUF
pLI 0.000
Z-score -1.36
OE 1.90 (0.81–1.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.96Z-score
OE missense 1.42 (1.15–1.75)
60 obs / 42.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.90 (0.81–1.95)
0≤0.351.4
Missense OE?1.42 (1.15–1.75)
0≤0.61.4
Synonymous OE?1.39
0≤1.21.6
LoF obs/exp: 5 / 2.6Missense obs/exp: 60 / 42.4Syn Z: -1.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SMIM22 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients