CALHM2

Chr 10

calcium homeostasis modulator family member 2

Pore-forming subunit of Ca(2+) homeostasis modulator channels. Mediates ATP release from astrocytes and ATP-induced Ca(2+) influx in microglia thus regulating neuronal ATP and Ca(2+) homeostasis, synaptic transmission and neuroinflammatory response. May form intercellular gap junctions. The gating mechanism remains unknown

OMIMResearchGenerating clinical summary…
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.64
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.64LOEUF
pLI 0.000
Z-score 0.18
OE 0.93 (0.551.64)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.11Z-score
OE missense 1.02 (0.911.14)
213 obs / 208.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.93 (0.551.64)
00.351.4
Missense OE?1.02 (0.911.14)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 8 / 8.6Missense obs/exp: 213 / 208.6Syn Z: -0.41

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

CALHM2 · 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.

Search ClinicalTrials.gov →