HAPLN2 Gene Summary [Human]
Predicted to enable hyaluronic acid binding activity. Predicted to be involved in central nervous system development and skeletal system development. Predicted to act upstream of or within establishment of blood-nerve barrier and extracellular matrix assembly. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Processed Transcript |
| Official Symbol | HAPLN2 |
| Official Name | hyaluronan and proteoglycan link protein 2 [Source:HGNC Symbol;Acc:HGNC:17410] |
| Ensembl ID | ENSG00000132702 |
| Bio databases IDs | |
| Aliases | hyaluronan and proteoglycan link protein 2, brain link protein 1 |
| Synonyms | 4930401E20Rik, BRAL1, hyaluronan and proteoglycan link protein 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HAPLN2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Link_Domain
- Immunoglobulin V-Type
- immunoglobulin domain
- Immunoglobulin like
- Immunoglobulin I-set domain
- protein binding
- Extracellular link domain
- Immunoglobulin V-set domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- glioma formation
- glioma
- leukopenia
role in cell
- morphology
- assembly
- anisotropic tortuosity
- conduction by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- nodes of Ranvier
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HAPLN2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system development
- skeletal system development
- establishment of blood-nerve barrier
- positive regulation of neuroblast proliferation
- cell adhesion
- extracellular matrix assembly
- glial cell differentiation
Cellular Component
Where in the cell the gene product is active
- extracellular space
- node of Ranvier
- perineuronal net
- synapse
- extracellular matrix
Molecular Function
What the gene product does at the molecular level
- protein binding
- hyaluronic acid binding