Disease relevance of GFRA2

• Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease [1].

High impact information on GFRA2

• We report the isolation and characterization of rat and human cDNAs for a novel cell-surface associated accessory protein, RETL2, that shares 49% identity with RETL1 [2].
• RETL1 and RETL2 represent new candidate susceptibility genes and/or modifier loci for RET-associated diseases [2].
• In addition, GFR alpha-2 mediated crosslinking of GDNF of c-Ret as well as ligand-dependent stimulation of c-Ret tyrosine phosphorylation [3].
• Glial cell-line derived neurotrophic factor and neurturin regulate the expressions of distinct miRNA precursors through the activation of GFRalpha2 [4].
• We have not detected any correlation between sequence variants of GFRA2 and the HSCR phenotype [1].

Biological context of GFRA2

• We identified six sequence variants of GFRA2, four of which did not affect the amino acid sequence of the GFRalpha-2 protein [1].
• GFRA2 has nine coding exons that are similar in size and organization to those of other GFRA family genes [1].

Anatomical context of GFRA2

• Notably, GFR alpha-2, which is expressed in the adult rat spinal cord, was not found in the adult human spinal cord [5].

Analytical, diagnostic and therapeutic context of GFRA2

• Using quantitative real-time PCR, we measured the expression of some miRNA precursors in human BE(2)-C cells that express GFRalpha2 but not GFRalpha1 [4].
• Sequence analysis indicated that GDNFR-beta is also a GPI-linked protein, with 47% identity to GDNFR-alpha [6].

References