HAPLN2

Chr 1

hyaluronan and proteoglycan link protein 2

Also known as: BRAL1

NCBI Gene: 60484ENSG00000132702UniProt: Q9GZV7OMIM: 619726

Predicted to enable hyaluronic acid binding activity. Predicted to be involved in central nervous system development and skeletal system development. Predicted to act upstream of or within establishment of blood-nerve barrier and extracellular matrix assembly. Is active in gel phase of interstitial matrix. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.29
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.29LOEUF
pLI 0.000
Z-score 0.77
OE 0.78 (0.49–1.29)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.31Z-score
OE missense 0.73 (0.64–0.84)
142 obs / 193.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.49–1.29)
0≤0.351.4
Missense OE?0.73 (0.64–0.84)
0≤0.61.4
Synonymous OE?0.73
0≤1.21.6
LoF obs/exp: 11 / 14.1Missense obs/exp: 142 / 193.3Syn Z: 1.92

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HAPLN2 · 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