CHST2

Chr 3

carbohydrate sulfotransferase 2

Also known as: C6ST, GST-2, GST2, Gn6ST-1, HEL-S-75, glcNAc6ST-1

This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X antigen. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…
GOFmechanismLOEUF 0.81
Clinical SummaryCHST2
Population Constraint (gnomAD)
Low constraint (pLI 0.02) — loss-of-function variants are relatively tolerated in the population.
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?
0.81LOEUF
pLI 0.018
Z-score 2.05
OE 0.39 (0.200.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.14Z-score
OE missense 0.66 (0.590.74)
209 obs / 316.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.39 (0.200.81)
00.351.4
Missense OE?0.66 (0.590.74)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 5 / 13.0Missense obs/exp: 209 / 316.2Syn Z: 0.53

This gene — mechanism propensity

DN
0.6162th %ile
GOF
0.6442th %ile
LOF
0.3744th %ile

The highest-scoring mechanism for this gene is gain-of-function.

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

CHST2 · 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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