OPALIN

Chr 10

oligodendrocytic myelin paranodal and inner loop protein

Also known as: HTMP10, TMEM10, TMP10

NCBI Gene: 93377ENSG00000197430UniProt: Q96PE5OMIM: 617200

Predicted to be involved in regulation of oligodendrocyte differentiation. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
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Pubs (1 yr)
—
P/LP submissions
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P/LP missense
1.45
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.45LOEUF
pLI 0.001
Z-score 0.75
OE 0.70 (0.36–1.45)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.60Z-score
OE missense 0.81 (0.67–1.00)
66 obs / 81.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.70 (0.36–1.45)
0≤0.351.4
Missense OE?0.81 (0.67–1.00)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 5 / 7.2Missense obs/exp: 66 / 81.3Syn Z: 0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OPALIN · 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