TMEM63A

Chr 1q42.12

transmembrane protein 63A

MANE:: ENST00000366835.8

OMIM: 618685 ↗NCBI: 9725 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TMEM63A · O94886

v62025-08-01

Predicted Aligned Error matrix for TMEM63A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.1/ 100

Confident

807 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)38%
Low(50–70)16%
Very low(< 50)19%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

leukodystrophy
0.66
leukodystrophy, hypomyelinating, 19, transient infantile
0.65
hereditary disease
0.19
neurodegenerative disease
0.14
Abnormality of the skeletal system
0.04
diffuse large B-cell lymphoma
0.03
mixed connective tissue disease
0.02
neuroma
0.02
Global developmental delay
0.01
Parkinson disease
0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mechanosensitive cation channel TMEM63A

Mechanosensitive cation channel with low conductance and high activation threshold (PubMed:30382938, PubMed:31587869, PubMed:37543036). In contrast to TMEM63B, does not show phospholipid scramblase activity (PubMed:39716028). Acts as a regulator of lysosomal morphology by mediating lysosomal mechanosensitivity (By similarity). Important for the baby's first breath and respiration throughout life (PubMed:38127458). Upon lung inflation conducts cation currents in alveolar type 1 and 2 cells triggering lamellar body exocytosis and surfactant secretion into airspace (PubMed:38127458). Also acts as an osmosensitive cation channel preferentially activated by hypotonic stress (By similarity)