MICU2

Chr 13

mitochondrial calcium uptake 2

Also known as: 1110008L20Rik, EFHA1, hMICU3

Enables calcium ion binding activity; calcium ion sensor activity; and protein heterodimerization activity. Involved in calcium import into the mitochondrion; cellular response to calcium ion; and negative regulation of mitochondrial calcium ion concentration. Located in mitochondrial intermembrane space. Part of uniplex complex. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)
not for standalone diagnostic reporting
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.51
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.51LOEUF
pLI 0.000
Z-score -0.51
OE 1.11 (0.82–1.51)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.31Z-score
OE missense 1.06 (0.95–1.18)
234 obs / 221.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.11 (0.82–1.51)
0≤0.351.4
Missense OE?1.06 (0.95–1.18)
0≤0.61.4
Synonymous OE?1.19
0≤1.21.6
LoF obs/exp: 29 / 26.2Missense obs/exp: 234 / 221.0Syn Z: -1.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MICU2 · 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

No active trials found for this gene.

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