GFRA2
GDNF family receptor alpha 2
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]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371692013 | 8:21,550,825 | C/T | — | uncertain significance |
| rs74640671 | 8:21,550,838 | C/T | — | benign |
| rs77601365 | 8:21,550,858 | G/A | — | benign |
| rs201825761 | 8:21,550,863 | G/A | — | uncertain significance |
| rs538741073 | 8:21,550,883 | G/C | — | likely benign |
| rs1322853085 | 8:21,550,900 | T/C | — | uncertain significance |
| rs377143626 | 8:21,550,908 | G/A | — | uncertain significance |
| rs375798460 | 8:21,560,393 | G/A | — | uncertain significance |
| rs201199040 | 8:21,560,406 | G/A | — | uncertain significance |
| rs575460539 | 8:21,560,486 | T/C | — | uncertain significance |
| rs372379278 | 8:21,562,551 | T/C | — | uncertain significance |
| rs750250626 | 8:21,562,557 | C/T | — | uncertain significance |
| rs748771049 | 8:21,563,506 | G/C | — | uncertain significance |
| rs373522339 | 8:21,563,512 | T/C | — | uncertain significance |
| rs773986301 | 8:21,563,516 | A/C | — | uncertain significance |
| rs2486446091 | 8:21,563,549 | G/A | — | uncertain significance |
| rs4078157 | 8:21,573,095 | T/A | — | — |
| rs796390533 | 8:21,590,296 | C/T | — | — |
| rs375157617 | 8:21,608,101 | G/A | — | uncertain significance |
| rs745318008 | 8:21,608,119 | G/C | — | uncertain significance |
| rs75502370 | 8:21,608,149 | G/A | — | uncertain significance |
| rs769783859 | 8:21,608,152 | T/G | — | uncertain significance |
| rs763109524 | 8:21,608,166 | T/A | — | uncertain significance |
| rs796065050 | 8:21,608,169 | G/A | missense variant | drug response |
| rs143087412 | 8:21,612,775 | G/T | intron variant | — |
| rs36196656 | 8:21,621,247 | C/G | — | — |
| rs1267008846 | 8:21,632,534 | G/A | — | uncertain significance |
| rs2486716141 | 8:21,640,190 | T/C | — | uncertain significance |
| rs1365095698 | 8:21,640,358 | G/A | — | uncertain significance |
| rs998092394 | 8:21,640,399 | C/G | — | uncertain significance |
| rs61738716 | 8:21,640,407 | C/G | — | uncertain significance |
| rs1166723445 | 8:21,645,647 | G/A | — | uncertain significance |
| rs866911272 | 8:21,645,649 | C/A | — | uncertain significance |
| rs1563267833 | 8:21,645,656 | C/T | — | uncertain significance |
| rs17581368 | 8:21,662,445 | C/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.