CAPN6

Chr X

calpain 6

Also known as: CANPX, CAPNX, CalpM, DJ914P14.1

CAPN6 encodes a proteolytically inactive member of the calcium-dependent cysteine protease family that functions as a microtubule-stabilizing protein and regulates cytoskeletal organization and cell mobility through RAC1 signaling pathways. The gene is highly constrained against loss-of-function variants, but specific disease associations and inheritance patterns have not been established in the provided data.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.39
Clinical SummaryCAPN6
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.82) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.39LOEUF
pLI 0.819
Z-score 3.70
OE 0.17 (0.080.39)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.52Z-score
OE missense 0.73 (0.650.83)
187 obs / 255.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.17 (0.080.39)
00.351.4
Missense OE0.73 (0.650.83)
00.61.4
Synonymous OE1.14
01.21.6
LoF obs/exp: 4 / 23.2Missense obs/exp: 187 / 255.2Syn Z: -0.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CAPN6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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