The reference OMIM entry for this protein is 606417

Wd repeat-containing protein 11; wdr11
Wdr15
Kiaa1351
Bromodomain- and wd repeat-containing protein 2, formerly; brwd2, formerly

DESCRIPTION

WDR11 is a member of the WD repeat-containing protein family. For background information on this family, see 604734.

CLONING

Allelic deletions in 10q25-q26 and 19q13.3-q13.4 are common genetic alterations in glial tumors. Chernova et al. (2001) identified a balanced t(10;19) reciprocal translocation in a glioblastoma cell line that involved both critical regions on chromosomes 10 and 19. By positional cloning of the translocation breakpoint, they identified a novel WD-repeat gene on chromosome 10, which they designated WDR11. WDR11 encodes a deduced 1,224-amino acid polypeptide with a calculated molecular mass of 137 kD. It contains 6 putative WD40 repeats, a predicted transmembrane region, and a tyrosine kinase phosphorylation site. Northern blot analysis detected ubiquitous expression of 3 major transcripts (4.5, 2.7 and 2.0 kb) in all tissues tested. Chernova et al. (2001) determined that the translocation resulted in deletion of exon 5 and fusion of intron 4 of WDR11 to the 3-prime untranslated region of ZNF320 (606427), a novel member of the Kruppel-like zinc finger gene family on chromosome 19. Since ZNF320 is oriented toward the centromere of chromosome 19, both genes appeared on the same derivative chromosome, der(10). The chimeric transcript encodes an aberrant WDR11 polypeptide, which is truncated after the second of the 6 WD repeats. Because of the localization of WDR11 in a region frequently showing loss of heterozygosity in glioblastoma (see DMBT1; 601969) and because WDR11 is inactivated in glioblastoma cells, Chernova et al. (2001) considered WDR11 to be a candidate tumor suppressor gene involved in tumorigenesis of glial and other tumors. To investigate developmental expression of Wdr11, Kim et al. (2010) performed whole-mount in situ hybridization analysis in mouse embryos from days E10.5 to E14.5. As early as E10.5, the entire developing central nervous system, except for the spinal cord, revealed Wdr11 expression. The neuroepithelium, including the diencephalic region that gives rise to hypothalamic neurons where GnRH (152760) neurons reside, stained strongly for Wdr11 at E11.5 and E12.5. At E14.5, high levels of Wdr11 expression were particularly noteworthy in the developing cortex and olfactory bulb. In the adult brain, intense Wdr11 expression was restricted to the olfactory bulb, the olfaction-related piriform cortex, the granule cell layer of the cerebellum, and neurons of the hippocampal formation. Kim et al. (2010) noted that the pattern of expression was consistent with a role for WDR11 in both normosmic and anosmic forms of hypogonadotropic hypogonadism.

GENE STRUCTURE

Chernova et al. (2001) determined that the WDR11 gene contains 29 exons distributed over 58 kb and is oriented towards the telomere.

MAPPING

By positional cloning, Chernova et al. (2001) mapped the WDR11 gene to chromosome 10q26.

GENE FUNCTION

Using a yeast 2-hybrid screen, Kim et al. (2010) identified EMX1 (600034) as a WDR11 binding partner. The interaction was confirmed in mammalian cells by coimmunoprecipitation assays and further confirmed by GST pull-down analysis. Kim et al. (2010) generated WDR11 deletion mutants and performed GST pull-down assays to assess binding, which demonstrated that both the N terminus and the central portion of WDR11 bind to EMX1, whereas the C terminus does not. Immunostaining in a physiologically relevant human cell system consisting of immorta ... More on the omim web site

Subscribe to this protein entry history

Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 606417 was added.

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).