ITLN2

Chr 1

intelectin 2

Also known as: HL-2, HL2

NCBI Gene: 142683ENSG00000158764UniProt: Q8WWU7

Predicted to enable oligosaccharide binding activity. Predicted to be located in extracellular region. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.12
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?
1.12LOEUF
pLI 0.000
Z-score 1.21
OE 0.68 (0.42–1.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.33Z-score
OE missense 0.93 (0.83–1.06)
180 obs / 192.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.42–1.12)
0≤0.351.4
Missense OE?0.93 (0.83–1.06)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 11 / 16.3Missense obs/exp: 180 / 192.9Syn Z: -0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ITLN2 · 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