LGALS9C

Chr 17

galectin 9C

Also known as: gal-9C

NCBI Gene: 654346ENSG00000171916UniProt: Q6DKI2

This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more telomeric gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.51
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.51LOEUF
pLI 0.000
Z-score 0.17
OE 0.95 (0.62–1.51)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.90Z-score
OE missense 0.82 (0.72–0.93)
155 obs / 189.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.95 (0.62–1.51)
0≤0.351.4
Missense OE?0.82 (0.72–0.93)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 13 / 13.7Missense obs/exp: 155 / 189.8Syn Z: 0.92

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LGALS9C · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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