HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HAPLN2
hyaluronan and proteoglycan link protein 2
Chromosome 1 · 1q23.1
NCBI Gene: 60484Ensembl: ENSG00000132702.14HGNC: HGNC:17410UniProt: B7Z1R1
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
gel phase of interstitial matrixprotein bindingcentral nervous system developmentGO:0005615craniosynostosisdiabetic ketoacidosisParkinson diseaseDecreased total leukocyte count
✦AI Summary

HAPLN2 (hyaluronan and proteoglycan link protein 2) is an extracellular matrix protein that mediates binding of versican to hyaluronic acid, primarily functioning in central nervous system structural organization at nodes of Ranvier 1. In healthy brains, HAPLN2 supports neuronal conduction and CNS matrix stability 2. However, HAPLN2 exhibits pathological aggregation during brain aging, accumulating as sarkosyl-insoluble protein aggregates when microglial function declines and hyaluronic acid levels increase 1. These HAPLN2 oligomers trigger microglial inflammatory responses, contributing to cerebellar aging 1. Age-related HAPLN2 accumulation in oligodendrocytes impairs memory function; reducing elevated HAPLN2 levels restores synaptic plasticity and cognitive performance in aged mice 3. HAPLN2 overexpression also contributes to Parkinson's disease pathogenesis by promoting protein aggregation and dopaminergic neurodegeneration 4. Additionally, altered HAPLN2 splicing occurs in alcohol use disorder following PCBP1-mediated dysregulation, potentially impairing hippocampal function 5. HAPLN2 has been identified as a candidate biomarker in glioblastoma and Alzheimer's disease proteomic studies 67. These findings establish HAPLN2 as a key mediator linking extracellular matrix remodeling to age-related cognitive decline and neurodegeneration.

Sources cited
1
HAPLN2 forms age-dependent protein aggregates in mouse brains; elevated hyaluronic acid and impaired microglial function promote HAPLN2 accumulation; HAPLN2 oligomers induce microglial inflammatory responses
PMID: 40811716
2
HAPLN2 is an oligodendrocyte-derived matrisome protein located at nodes of Ranvier; age-related HAPLN2 upregulation impairs memory; reducing HAPLN2 restores synaptic plasticity and cognitive function in aged mice
PMID: 41676692
3
HAPLN2 expression is elevated in Parkinson's disease substantia nigra; HAPLN2 overexpression increases dopaminergic cell vulnerability and promotes protein aggregation including α-synuclein
PMID: 27601993
4
HAPLN2 undergoes altered splicing in alcohol use disorder via PCBP1-mediated dysregulation; aberrant splicing predicts loss of extracellular matrix protein function affecting nerve conduction
PMID: 37537282
5
HAPLN2 is a hyaluronan-binding protein component of optic nerve meningeal extracellular matrix identified through proteomic analysis
PMID: 32956686
6
HAPLN2 identified as candidate biomarker molecule for glioblastoma diagnosis via liquid biopsy approaches
PMID: 30356407
7
HAPLN2 identified as additional predictor protein in machine learning model for Alzheimer's disease classification
PMID: 36776048
8
HAPLN2 is involved in perineuronal net formation; investigated for potential involvement in schizophrenia susceptibility
PMID: 20950796
Disease Associationsⓘ20
craniosynostosisOpen Targets
0.12Weak
diabetic ketoacidosisOpen Targets
0.11Weak
Parkinson diseaseOpen Targets
0.08Suggestive
Decreased total leukocyte countOpen Targets
0.05Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
ependymomaOpen Targets
0.02Suggestive
nervous system diseaseOpen Targets
0.02Suggestive
schizophreniaOpen Targets
0.01Suggestive
medulloblastomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
major depressive disorderOpen Targets
0.01Suggestive
childhood supratentorial ependymomaOpen Targets
0.01Suggestive
epilepsyOpen Targets
0.00Suggestive
neurodegenerative diseaseOpen Targets
0.00Suggestive
dementiaOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
malignant gliomaOpen Targets
0.00Suggestive
memory impairmentOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HAPLN1Shared pathway100%NCANShared pathway100%HAPLN3Shared pathway100%NRCAMProtein interaction78%PTPRZ1Protein interaction76%ACANShared pathway75%
Tissue Expression6 tissues
Brain
100%
Ovary
4%
Heart
3%
Lung
2%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HAPLN2HAPLN1NCANHAPLN3NRCAMPTPRZ1ACAN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9GZV7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.40LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.76–1.40]
RankingsWhere HAPLN2 stands among ~20K protein-coding genes
  • #15,885of 20,598
    Most Researched14
  • #14,529of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedHAPLN2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HAPLN2 forms aggregates and promotes microglial inflammation during brain aging in mice.
PMID: 40811716
PLoS Biol · 2025
1.00
2
Candidate Biomarkers and Molecular Mechanism Investigation for Glioblastoma Multiforme Utilizing WGCNA.
PMID: 30356407
Biomed Res Int · 2018
0.90
3
Conserved role for PCBP1 in altered RNA splicing in the hippocampus after chronic alcohol exposure.
PMID: 37537282
Mol Psychiatry · 2023
0.80
4
The extracellular matrix composition of the optic nerve subarachnoid space.
PMID: 32956686
Exp Eye Res · 2020
0.70
5
Machine Learning Selection of Most Predictive Brain Proteins Suggests Role of Sugar Metabolism in Alzheimer's Disease.
PMID: 36776048
J Alzheimers Dis · 2023
0.60