GFRA2 GDNF family receptor alpha 2
Gene ID: 2675, updated on 13-Apr-2024Gene type: protein coding
Also known as: NTNRA; RETL2; TRNR2; GDNFRB; NRTNR-ALPHA
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- Go to complete Gene record for GFRA2
- Go to Variation Viewer for GFRA2 variants
Summary
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]
Associated conditions
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Description | Tests |
---|---|
A genome-wide association study suggests an association of Chr8p21.3 (GFRA2) with diabetic neuropathic pain. GeneReviews: Not available | |
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. GeneReviews: Not available | |
Genome-wide meta-analysis identifies new susceptibility loci for migraine. GeneReviews: Not available |
Genomic context
- Location:
- 8p21.3
- Sequence:
- Chromosome: 8; NC_000008.11 (21690398..21812345, complement)
- Total number of exons:
- 13
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for GFRA2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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