CTAG2

Chr X

cancer/testis antigen 2

Also known as: CAMEL, CT2, CT6.2, CT6.2a, CT6.2b, ESO2, LAGE-1, LAGE2B

NCBI Gene: 30848ENSG00000126890UniProt: O75638

This gene encodes a cancer-testis antigen that functions as an autoimmunogenic tumor antigen normally expressed only in testis tissue but aberrantly expressed in various cancers including melanoma, breast, bladder, and prostate cancers. The protein serves as a target for cancer immunotherapy as it can be recognized by cytotoxic T-lymphocytes. Based on the available information, CTAG2 mutations are not associated with pediatric neurological disorders, as this gene primarily functions in cancer biology and immune recognition.

Summary from RefSeq
Research Assistant →
1
Active trials
1
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
1.86
LOEUF
—
Mechanism
Clinical Summary— CTAG2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.10) — loss-of-function variants are relatively tolerated in the population.
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.86LOEUF
pLI 0.105
Z-score 0.23
OE 0.78 (0.23–1.86)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.49Z-score
OE missense 1.13 (0.98–1.32)
119 obs / 104.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.78 (0.23–1.86)
0≤0.351.4
Missense OE1.13 (0.98–1.32)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 1 / 1.3Missense obs/exp: 119 / 104.9Syn Z: 0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CTAG2 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients