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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HAPLN4
hyaluronan and proteoglycan link protein 4
Chromosome 19 · 19p13.11
NCBI Gene: 404037Ensembl: ENSG00000187664.10HGNC: HGNC:31357UniProt: Q86UW8
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
✦AI Summary

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.

Sources cited
1
HAPLN4 is a perineuronal net formation gene; candidate gene analysis in schizophrenia
PMID: 20950796
2
Higher genetically predicted HAPLN4 associated with decreased visceral obesity risk; identified as safe drug target
PMID: 39835424
3
HAPLN4 identified as causal protein target for rheumatoid arthritis; downregulated in RA
PMID: 40996951
4
HAPLN4 identified as drug target for schizophrenia and bipolar disorder with strongest MR evidence
PMID: 37418754
5
HAPLN4 identified as psychiatric disease risk gene with pleiotropic effects on multiple psychiatric disorders through DNA methylation mechanisms
PMID: 34637873
6
HAPLN4 identified as comorbid gene linking triglyceride-glucose index to metabolic dysfunction-associated steatotic liver disease
PMID: 41056021
7
HAPLN4 variants identified in essential tremor families; gene expressed in cerebellum and involved in GABAergic system
PMID: 26508575
8
HAPLN4 downregulated with PPAR α/δ agonist treatment in NASH model; involved in fibrosis pathway
PMID: 33326461
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.10Weak
rheumatoid arthritisOpen Targets
0.10Suggestive
esophageal varicesOpen Targets
0.09Suggestive
portal hypertensionOpen Targets
0.08Suggestive
metabolic diseaseOpen Targets
0.06Suggestive
bipolar disorderOpen Targets
0.04Suggestive
HypercholesterolemiaOpen Targets
0.04Suggestive
hyperlipidemiaOpen Targets
0.04Suggestive
liver diseaseOpen Targets
0.04Suggestive
esophageal diseaseOpen Targets
0.04Suggestive
cirrhosis of liverOpen Targets
0.04Suggestive
Abnormality of blood and blood-forming tissuesOpen Targets
0.04Suggestive
familial hyperlipidemiaOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
Abnormality of the liverOpen Targets
0.03Suggestive
Disorder of lipid metabolismOpen Targets
0.03Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.03Suggestive
bipolar I disorderOpen Targets
0.03Suggestive
familial hypercholesterolemiaOpen Targets
0.03Suggestive
AscitesOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes

No related genes found for this gene.

Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network

No interaction data available for this gene.

PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q86UW8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.53–1.08]
RankingsWhere HAPLN4 stands among ~20K protein-coding genes
  • #16,779of 20,598
    Most Researched11
  • #11,031of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedHAPLN4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mendelian Randomization Using the Druggable Genome Reveals Genetically Supported Drug Targets for Psychiatric Disorders.
PMID: 37418754
Schizophr Bull · 2023
1.00
2
Exploration of potential novel drug targets for rheumatoid arthritis by plasma proteome screening.
PMID: 40996951
PLoS Comput Biol · 2025
0.90
3
Decoding the triglyceride-glucose index in metabolic dysfunction-associated steatotic liver disease: integrative insights from Mendelian randomization, cross-tissue transcriptomics, and spatial multi-omics.
PMID: 41056021
Int J Surg · 2026
0.80
4
Genetic insights into visceral obesity with health conditions, from disease susceptibility to therapeutic intervention.
PMID: 39835424
Postgrad Med J · 2025
0.70
5
The pharmacodynamic and differential gene expression analysis of PPAR α/δ agonist GFT505 in CDAHFD-induced NASH model.
PMID: 33326461
PLoS One · 2020
0.60