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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HAPLN3
hyaluronan and proteoglycan link protein 3
Chromosome 15 · 15q26.1
NCBI Gene: 145864Ensembl: ENSG00000140511.12HGNC: HGNC:21446UniProt: A8K7T8
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
gel phase of interstitial matrixGO:0005615perineuronal netskeletal system developmentcoronary artery diseaseangina pectorismyocardial infarctionacute myocardial infarction
✦AI Summary

HAPLN3 (hyaluronan and proteoglycan link protein 3) is a member of the link protein superfamily that functions in hyaluronic acid binding and extracellular matrix organization 1. The protein contains typical modular elements of link proteins and has an estimated molecular mass of 39 kDa 1. HAPLN3 co-localizes with versican around vascular smooth muscle cells and is coordinately upregulated by platelet-derived growth factor, suggesting involvement in pericellular matrix formation 1. In cancer contexts, HAPLN3 demonstrates significant clinical relevance as a potential biomarker and therapeutic target. The gene shows elevated expression in breast cancer tissues compared to normal tissues, with positive correlation to human epidermal receptor 2 staining density 2. In clear cell renal cell carcinoma (ccRCC), HAPLN3 promotes tumor progression by inhibiting apoptosis and promoting epithelial-mesenchymal transition through ERK and Bcl-2 signaling pathways 3. Additionally, HAPLN3 serves as a prognostic biomarker, with hypermethylation detected in circulating tumor DNA of metastatic prostate cancer patients 4. The protein also functions as a modifier gene, with the HAPLN3 p.T34A variant contributing to incomplete penetrance of moyamoya disease 5.

Sources cited
1
HAPLN3 is a link protein that binds hyaluronic acid, co-localizes with versican, and is upregulated by PDGF in vascular smooth muscle cells
PMID: 15464361
2
HAPLN3 expression is significantly elevated in breast cancer tissues and correlates with HER2 staining density
PMID: 20664984
3
HAPLN3 promotes ccRCC progression by inhibiting apoptosis and promoting EMT through ERK and Bcl-2 pathways
PMID: 36374334
4
HAPLN3 hypermethylation serves as a biomarker in circulating tumor DNA of metastatic prostate cancer
PMID: 32486483
5
HAPLN3 p.T34A variant acts as a modifier gene affecting moyamoya disease penetrance
PMID: 39315749
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.22Weak
angina pectorisOpen Targets
0.18Weak
myocardial infarctionOpen Targets
0.18Weak
acute myocardial infarctionOpen Targets
0.16Weak
cardiovascular diseaseOpen Targets
0.15Weak
percutaneous transluminal coronary angioplastyOpen Targets
0.15Weak
Myocardial IschemiaOpen Targets
0.14Weak
coronary atherosclerosisOpen Targets
0.13Weak
osteoarthritis, kneeOpen Targets
0.12Weak
type 2 diabetes mellitusOpen Targets
0.10Suggestive
diabetes mellitusOpen Targets
0.10Suggestive
osteoarthritisOpen Targets
0.08Suggestive
ArthropathyOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
intermediate coronary syndromeOpen Targets
0.07Suggestive
eosinophil peroxidase deficiencyOpen Targets
0.07Suggestive
immunodeficiency 88Open Targets
0.06Suggestive
osteoarthritis, hipOpen Targets
0.06Suggestive
linear and whorled nevoid hypermelanosisOpen Targets
0.06Suggestive
chronic myeloproliferative disorderOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HAPLN1Shared pathway100%NCANShared pathway100%HAPLN2Shared pathway100%ACANShared pathway75%BCANShared pathway75%HAPLN4Shared pathway60%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
36%
Ovary
36%
Heart
27%
Brain
11%
Liver
6%
Gene Interaction Network
Click a node to explore
HAPLN3HAPLN1NCANHAPLN2ACANBCANHAPLN4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96S86
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.95 [0.71–1.28]
RankingsWhere HAPLN3 stands among ~20K protein-coding genes
  • #15,585of 20,598
    Most Researched15
  • #13,532of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedHAPLN3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Significant elevation of CLDN16 and HAPLN3 gene expression in human breast cancer.
PMID: 20664984
Oncol Rep · 2010
1.00
2
HAPLN3 inhibits apoptosis and promotes EMT of clear cell renal cell carcinoma via ERK and Bcl-2 signal pathways.
PMID: 36374334
J Cancer Res Clin Oncol · 2023
0.90
3
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
PMID: 39315749
Eur J Neurol · 2024
0.80
4
Prognostic DNA methylation markers for prostate cancer.
PMID: 25238417
Int J Mol Sci · 2014
0.70
5
Lp3/Hapln3, a novel link protein that co-localizes with versican and is coordinately up-regulated by platelet-derived growth factor in arterial smooth muscle cells.
PMID: 15464361
Matrix Biol · 2004
0.60