Property Summary

NCBI Gene PubMed Count 8
PubMed Score 16.48
PubTator Score 3.83

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
psoriasis 1.400 0.000
posterior fossa group B ependymoma 1.300 0.000
group 3 medulloblastoma 1.200 0.001

Gene RIF (4)

PMID Text
26123727 We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration.
26070982 WDR73 interacts with mitotic microtubules to regulate cell cycle progression, proliferation and survival in brain
25873735 Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome
25466283 WDR73 plays a crucial role in the maintenance of cell architecture and cell survival.

AA Sequence

MDPGDDWLVESLRLYQDFYAFDLSGATRVLEWIDDKGVFVAGYESLKKNEILHLKLPLRLSVKENKGLFP      1 - 70
ERDFKVRHGGFSDRSIFDLKHVPHTRLLVTSGLPGCYLQVWQVAEDSDVIKAVSTIAVHEKEESLWPRVA     71 - 140
VFSTLAPGVLHGARLRSLQVVDLESRKTTYTSDVSDSEELSSLQVLDADTFAFCCASGRLGLVDTRQKWA    141 - 210
PLENRSPGPGSGGERWCAEVGSWGQGPGPSIASLGSDGRLCLLDPRDLCHPVSSVQCPVSVPSPDPELLR    211 - 280
VTWAPGLKNCLAISGFDGTVQVYDATSWDGTRSQDGTRSQVEPLFTHRGHIFLDGNGMDPAPLVTTHTWH    281 - 350
PCRPRTLLSATNDASLHVWDWVDLCAPR                                              351 - 378
//

Text Mined References (11)

PMID Year Title
26123727 2015 WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
26070982 2015 Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
25873735 2015 Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
25466283 2014 Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
21269460 2011 Initial characterization of the human central proteome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
More...