CALHM3

Chr 10

calcium homeostasis modulator 3

Pore-forming subunit of gustatory voltage-gated ion channels required for sensory perception of sweet, bitter and umami tastes. With CALHM1 forms a fast-activating voltage-gated ATP-release channel in type II taste bud cells, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel: mediates neuronal excitability in response to membrane depolarization and low extracellular Ca(2+) concentration. Has poor ion selectivity and forms a wide pore (around 14 Angstroms) that mediates permeation of small ions including Ca(2+), Na(+), K(+) and Cl(-), as well as larger ions such as ATP(4-)

OMIMResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
1.20
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.20LOEUF
pLI 0.003
Z-score 1.18
OE 0.57 (0.301.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.35Z-score
OE missense 0.93 (0.821.05)
186 obs / 199.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.301.20)
00.351.4
Missense OE?0.93 (0.821.05)
00.61.4
Synonymous OE?0.87
01.21.6
LoF obs/exp: 5 / 8.8Missense obs/exp: 186 / 199.8Syn Z: 0.98

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

CALHM3 · 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 →