10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
gel phase of interstitial matrixskeletal system developmentstructural constituent of synapse-associated extracellular matrixcentral nervous system developmentAbnormality of the skeletal systemrheumatoid arthritisesophageal varicesportal hypertension
HAPLN4 (hyaluronan and proteoglycan link protein 4) is a perineuronal net (PNN) component essential for structural organization of extracellular matrix in the central nervous system. It mediates proper localization of brevican in brainstem and cerebellar PNNs, where it contributes to GABAergic synapse formation and transmission between Purkinje cells and deep cerebellar nuclei. HAPLN4 localizes to inhibitory synapses and serves as a structural constituent of synapse-associated extracellular matrix 1.
Genetically predicted elevation of circulating HAPLN4 is associated with decreased risk of visceral obesity and may represent a safe drug target for obesity treatment 2. HAPLN4 has emerged as a candidate therapeutic target identified through proteome-wide Mendelian randomization for rheumatoid arthritis, where it is downregulated in disease 3. Additionally, HAPLN4 is implicated in schizophrenia and bipolar disorder pathophysiology based on genome-wide association evidence and DNA methylation studies 4, 5. It was identified as a genetic comorbid gene linking triglyceride-glucose index to metabolic dysfunction-associated steatotic liver disease 6. Variants in HAPLN4 are also associated with essential tremor in families with cerebellar dysfunction 7. Expression of HAPLN4 is dynamically regulated in non-alcoholic steatohepatitis by PPAR α/δ agonists 8. These findings suggest HAPLN4's role extends beyond PNN structural function to broader metabolic and psychiatric disease mechanisms.
1
HAPLN4 is a perineuronal net formation gene; candidate gene analysis in schizophrenia
PMID: 209507962
Higher genetically predicted HAPLN4 associated with decreased visceral obesity risk; identified as safe drug target
PMID: 398354243
HAPLN4 identified as causal protein target for rheumatoid arthritis; downregulated in RA
PMID: 409969514
HAPLN4 identified as drug target for schizophrenia and bipolar disorder with strongest MR evidence
PMID: 374187545
HAPLN4 identified as psychiatric disease risk gene with pleiotropic effects on multiple psychiatric disorders through DNA methylation mechanisms
PMID: 346378736
HAPLN4 identified as comorbid gene linking triglyceride-glucose index to metabolic dysfunction-associated steatotic liver disease
PMID: 410560217
HAPLN4 variants identified in essential tremor families; gene expressed in cerebellum and involved in GABAergic system
PMID: 265085758
HAPLN4 downregulated with PPAR α/δ agonist treatment in NASH model; involved in fibrosis pathway
PMID: 33326461Abnormality of the skeletal systemOpen Targets
rheumatoid arthritisOpen Targets
esophageal varicesOpen Targets
portal hypertensionOpen Targets
metabolic diseaseOpen Targets
bipolar disorderOpen Targets
HypercholesterolemiaOpen Targets
hyperlipidemiaOpen Targets
liver diseaseOpen Targets
esophageal diseaseOpen Targets
cirrhosis of liverOpen Targets
Abnormality of blood and blood-forming tissuesOpen Targets
familial hyperlipidemiaOpen Targets
type 2 diabetes mellitusOpen Targets
Abnormality of the liverOpen Targets
Disorder of lipid metabolismOpen Targets
non-alcoholic fatty liver diseaseOpen Targets
bipolar I disorderOpen Targets
familial hypercholesterolemiaOpen Targets
No pathogenic variants reported on ClinVar for this gene.
No tissue expression data available for this gene.