GFRA2 Gene Summary [Human]
Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | GFRA2 |
| Official Name | GDNF family receptor alpha 2 [Source:HGNC Symbol;Acc:HGNC:4244] |
| Ensembl ID | ENSG00000168546 |
| Bio databases IDs | |
| Aliases | GDNF family receptor alpha 2 |
| Synonyms | GDNFALPHA-2, GDNF family receptor alpha 2, GDNF family receptor α 2, GDNFRB, GDNF receptor alpha2, Gdnfr β, GFRA2 isoform 1, Gfr α 2, glial cell line derived neurotrophic factor family receptor alpha 2, glial cell line derived neurotrophic factor family receptor α 2, NRTNR-ALPHA, NRTNR-α, NTNRA, Ntnr alpha, Ntnr α, RETL2, TRNR2 |
| 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 GFRA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glial cell line-derived neurotrophic factor receptor
- binding protein
- transmembrane receptor
- glycosaminoglycan binding
- GDNF/GAS1 domain
Pathways
Biological processes and signaling networks where the GFRA2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- migraines
- androgenic alopecia
- colorectal cancer
- lung carcinoma
- frontotemporal dementia
- generalized seizures
- kindling
- ptosis
- growth failure
- hypoperistalsis
role in cell
- quantity
- survival
- growth
- loss
- outgrowth
- innervation
- abnormal morphology
- neuritogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cell surface
- cellular membrane
- neurites
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GFRA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glial cell-derived neurotrophic factor receptor signaling pathway
- nervous system development
- transmembrane receptor protein tyrosine kinase signaling pathway
Cellular Component
Where in the cell the gene product is active
- external side of plasma membrane
- receptor complex
- extrinsic to membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- glial cell-derived neurotrophic factor receptor activity