Alternative titles; symbols
HGNC Approved Gene Symbol: FOXD2
Cytogenetic location: 1p33 Genomic coordinates (GRCh38): 1:47,438,044-47,440,691 (from NCBI)
Ernstsson et al. (1997) described the cloning of a nearly full-length 4,258-bp cDNA encoding the human forkhead gene FREAC9 (FKHL17). The 5-prime untranslated region is unusual since it is very long (2,127 bp) and contains 15 upstream AUG codons. Hybridization to a panel consisting of RNA derived from 50 different tissues showed that the FKHL17 gene is transcribed exclusively in the kidney. The conceptual translation product predicts a protein of 372 amino acids within an N-terminal domain rich in acidic amino acids and with a high likelihood of forming an amphipathic helix, a DNA binding forkhead domain, and a C-terminal region that has a high probability of forming an amphipathic beta-sheet. The amino acid sequence of the DNA binding forkhead motif of this protein is identical to that of another forkhead protein, FREAC4 (601091), whereas 12 substitutions are present at the nucleotide level. There are no similarities in regions outside of the DNA binding domains of FREAC9 and FREAC4, and since the gene encoding the latter protein maps to 5q12-q13, it is likely that evolutionary selection has acted to maintain identical DNA binding domains between these 2 kidney-expressed transcription factors.
By a combination of fluorescence in situ hybridization and somatic cell hybrid analyses, Ernstsson et al. (1997) localized the FKHL17 gene to chromosome 1p34-p32. Ernstsson et al. (1997) tabulated the chromosomal localization of 15 human forkhead genes in their Table 1.
Ernstsson, S., Betz, R., Lagercrantz, S., Larsson, C., Ericksson, S., Cederberg, A., Carlsson, P., Enerback, S. Cloning and characterization of freac-9 (FKHL17), a novel kidney-expressed human forkhead gene that maps to chromosome 1p32-p34. Genomics 46: 78-85, 1997. [PubMed: 9403061] [Full Text: https://doi.org/10.1006/geno.1997.4986]