TMEM63A

Chr 1AD

transmembrane protein 63A

Also known as: HLD19, KIAA0792, hTMEM63A

NCBI Gene: 9725ENSG00000196187UniProt: O94886OMIM: 618685

Enables mechanosensitive monoatomic ion channel activity. Predicted to be involved in surfactant secretion. Located in bounding membrane of organelle; centriolar satellite; and plasma membrane. Implicated in hypomyelinating leukodystrophy 19. [provided by Alliance of Genome Resources, Apr 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Leukodystrophy, hypomyelinating, 19, transient infantileMIM #618688
AD
0
Active trials
21
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 2.43
OE 0.60 (0.44–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.24Z-score
OE missense 0.84 (0.77–0.91)
384 obs / 459.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.44–0.83)
0≤0.351.4
Missense OE?0.84 (0.77–0.91)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 26 / 43.2Missense obs/exp: 384 / 459.0Syn Z: 0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMEM63A · 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