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C2CD6

Chr 2AR

catsper channel auxiliary subunit tau

Also known as: ALS2CR11, C2CD6, SPGF68

An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]

OMIMResearchGenerating clinical summary…
MultiplemechanismARLOEUF 0.731 OMIM phenotype
Clinical SummaryC2CD6
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.73LOEUF
pLI 0.000
Z-score 3.31
OE 0.56 (0.430.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.82Z-score
OE missense 0.73 (0.680.78)
620 obs / 851.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.56 (0.430.73)
00.351.4
Missense OE?0.73 (0.680.78)
00.61.4
Synonymous OE?0.76
01.21.6
LoF obs/exp: 36 / 64.7Missense obs/exp: 620 / 851.3Syn Z: 3.27

This gene — mechanism propensity

DN
0.6936th %ile
GOF
0.6833th %ile
LOF
0.3162th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C2CD6 · 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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