HAPLN2
Hyaluronan and Proteoglycan Link Protein 2
Gene Information Card
| Symbol | HAPLN2 |
|---|---|
| Full Name | Hyaluronan and Proteoglycan Link Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 60484 ncbi.nlm.nih.gov/gene/60484 |
| Ensembl ID | ENSG00000132702 |
| UniProt ID | Q9GZV7 |
| OMIM ID | 607522 |
| HGNC ID | 23747 |
| Aliases | BRAL2, BRAL-2, brain link protein 2 |
Description
HAPLN2 (hyaluronan and proteoglycan link protein 2) encodes a member of the link protein family that stabilizes the interaction between hyaluronan and proteoglycans in the extracellular matrix. It is primarily expressed in the brain, where it contributes to the formation of perineuronal nets and the structural integrity of the central nervous system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 15.2 | Medium |
| Cerebral cortex | 11.8 | Medium |
| Spinal cord | 8.3 | Low |
| Testis | 1.2 | Not detected |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 9.8 | Moderate expression |
| U-87 MG (glioblastoma) | 7.4 | Moderate expression |
| HEK 293 (embryonic kidney) | 0.3 | Not detected |
| Hep G2 (hepatocellular carcinoma) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar or COSMIC | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent (GO:0005201) | • glycosaminoglycan binding (GO:0005539) |
| • extracellular matrix structural constituent conferring tensile strength (GO:0030020) | • external encapsulating structure organization (GO:0030312) |
| • myelin sheath (GO:0043209) | • neuronal cell body (GO:0071953) |
Pathways
• ['R-HSA-216083'
• 'Integrin cell surface interactions']
• ['R-HSA-3000178'
• 'ECM proteoglycans']
• ['R-HSA-1474244'
• 'Extracellular matrix organization']
Protein Summary
HAPLN2 is a 340-amino-acid protein (UniProt Q9GZV7) that contains a hyaluronan-binding domain and a link domain. It functions as a stabilizer of hyaluronan-proteoglycan aggregates in the brain extracellular matrix, particularly in perineuronal nets. The protein is secreted and localizes to the extracellular space, where it contributes to neural plasticity and myelination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HAPLN2 Knockout HEK293 Cell Line | EDJ-KQ13722 | Human | 60484 | Details Get a Quote |
| HAPLN2 Knockout HeLa Cell Line | EDJ-KQ56979 | Human | 60484 | Details Get a Quote |
| HAPLN2 Knockout A-549 Cell Line | EDJ-KQ65481 | Human | 60484 | Details Get a Quote |
| HAPLN2 Knockout HCT 116 Cell Line | EDJ-KQ73920 | Human | 60484 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
