HAPLN3
Hyaluronan and Proteoglycan Link Protein 3
Gene Information Card
| Symbol | HAPLN3 |
|---|---|
| Full Name | hyaluronan and proteoglycan link protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 145864 ncbi.nlm.nih.gov/gene/145864 |
| Ensembl ID | ENSG00000166965 |
| UniProt ID | Q96S86 |
| OMIM ID | 617428 |
| HGNC ID | 24827 |
| Aliases | LP3, BRAL2, HAPLN3 |
Description
HAPLN3 (hyaluronan and proteoglycan link protein 3) encodes a member of the link protein family that stabilizes the interaction between hyaluronic acid and proteoglycans in the extracellular matrix. It is involved in cartilage development and maintenance of tissue integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered extracellular matrix composition due to HAPLN3 dysfunction may contribute to cartilage degradation. | ClinVar, NCBI Gene |
| Spondyloepiphyseal dysplasia | Potential role in skeletal development; mutations may disrupt proteoglycan aggregation. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Heart | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes | 15.2 | High expression |
| Fibroblasts | 7.8 | Moderate expression |
| HEK293 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67His) | Missense | 0.01% | Unknown functional impact; reported in ClinVar |
| c.345C>T (p.Arg115Trp) | Missense | 0.005% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative variants identified.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • hyaluronic acid binding |
| • extracellular space | • extracellular matrix |
Pathways
• ECM-receptor interaction
• Proteoglycans in cancer
Protein Summary
HAPLN3 is a 340-amino-acid protein that functions as a link protein, stabilizing aggregates of hyaluronan and proteoglycans in the extracellular matrix. It is predominantly expressed in cartilage and plays a role in matrix organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HAPLN3 Knockout HEK293 Cell Line | EDJ-KQ3673 | Human | 145864 | Details Get a Quote |
| HAPLN3 Knockout A-549 Cell Line | EDJ-KQ25657 | Human | 145864 | Details Get a Quote |
| HAPLN3 Knockout HCT 116 Cell Line | EDJ-KQ25658 | Human | 145864 | Details Get a Quote |
| HAPLN3 Knockout HeLa Cell Line | EDJ-KQ25659 | Human | 145864 | Details Get a Quote |
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