ITLN1

Chr 1

intelectin 1

Also known as: HL-1, HL1, INTL, ITLN, LFR, hIntL, omentin

NCBI Gene: 55600ENSG00000179914UniProt: Q8WWA0

Enables calcium ion binding activity; identical protein binding activity; and oligosaccharide binding activity. Involved in positive regulation of D-glucose import across plasma membrane; positive regulation of protein phosphorylation; and protein homotrimerization. Located in extracellular exosome. Part of signaling receptor complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
1
Active trials
36
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.07
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?
1.07LOEUF
pLI 0.000
Z-score 1.34
OE 0.65 (0.41–1.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.43Z-score
OE missense 0.91 (0.81–1.03)
174 obs / 190.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.41–1.07)
0≤0.351.4
Missense OE?0.91 (0.81–1.03)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 11 / 17.0Missense obs/exp: 174 / 190.7Syn Z: -1.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ITLN1 · 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