HAPLN4
Hyaluronan and Proteoglycan Link Protein 4
Gene Information Card
| Symbol | HAPLN4 |
|---|---|
| Full Name | Hyaluronan and Proteoglycan Link Protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 404037 ncbi.nlm.nih.gov/gene/404037 |
| Ensembl ID | ENSG00000187837 |
| UniProt ID | Q86UP2 |
| OMIM ID | 610159 |
| HGNC ID | 24807 |
| Aliases | BRAL2, BRAL-2, brain link protein 2 |
Description
HAPLN4 (Hyaluronan and Proteoglycan Link Protein 4) encodes a member of the hyaluronan and proteoglycan link protein family. The encoded protein, also known as brain link protein 2 (BRAL2), is involved in the formation and stabilization of hyaluronan-rich extracellular matrix structures, particularly in the central nervous system. It binds hyaluronan and interacts with proteoglycans, contributing to matrix assembly and neural function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not established | 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 | 2.1 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.5 | Moderate expression |
| U-87 MG (glioblastoma) | 6.2 | Low expression |
| HEK 293 | 0.5 | Not detected |
| HeLa | 0.3 | 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 | N/A | N/A | N/A |
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)
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Hyaluronan metabolism (Reactome: R-HSA-2142850)
Protein Summary
The HAPLN4 protein (UniProt Q86UP2) is a 340-amino-acid extracellular matrix linker protein. It contains a hyaluronan-binding domain and a C-type lectin domain, enabling it to crosslink hyaluronan with proteoglycans. It is predominantly expressed in the brain, where it stabilizes perineuronal nets and contributes to synaptic plasticity. The protein is secreted and localizes to the extracellular matrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HAPLN4 Knockout HEK293 Cell Line | EDJ-KQ11714 | Human | 404037 | Details Get a Quote |
| HAPLN4 Knockout HeLa Cell Line | EDJ-KQ60343 | Human | 404037 | Details Get a Quote |
| HAPLN4 Knockout A-549 Cell Line | EDJ-KQ68810 | Human | 404037 | Details Get a Quote |
| HAPLN4 Knockout HCT 116 Cell Line | EDJ-KQ77173 | Human | 404037 | Details Get a Quote |
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