Property Summary

NCBI Gene PubMed Count 34
PubMed Score 47.05
PubTator Score 37.91

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Asthma 349
Glaucoma, Primary Open Angle 6
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Esophagitis 26 0.0 2.0
Disease Target Count Z-score Confidence
Glaucoma 135 5.757 2.9
Disease Target Count Z-score Confidence
Blindness 84 4.291 2.1

Expression

  Differential Expression (6)

Disease log2 FC p
acute quadriplegic myopathy 1.380 1.1e-06
Breast cancer 2.500 3.9e-02
group 3 medulloblastoma 1.400 1.2e-04
spina bifida 1.158 4.1e-02
invasive ductal carcinoma -1.100 2.3e-03
ovarian cancer 1.300 2.7e-02

 GO Function (1)

 GWAS Trait (1)

Gene RIF (33)

PMID Text
26497787 Familial linkage studies for primary angle-closure glaucoma have been performed and identified WDR36 causative primary angle-closure glaucoma disease
25711070 According to molecular genetic studies, WDR36 causative gene involved in the development of Primary open-angle glaucoma.
22174317 HIV-1 Rev interacting protein, WD repeat-containing protein 36 (WDR36), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with WDR36 is increased by RRE
22025897 Single nucleotide polymorphism in the WDR36 gene, rs10038177 (c.710+30C>T), was found to be strongly associated with the high tension glaucoma cases, but not with controls in the East Indian population.
21940795 WDR36 acts as a scaffold protein tethering a G-protein-coupled receptor, Galphaq and phospholipase C beta 2 in a signalling complex
21931130 Rare WDR36 variants and the P53 p.R72P polymorphism behaved as moderate glaucoma risk factors in Spanish patients. The authors provide evidence for a genetic interaction between WDR36 and P53 variants in glaucoma susceptibility.
20816195 Observational study of gene-disease association. (HuGE Navigator)
20813748 WDR36 sequence variance was only a rare cause of primary open-angel glaucoma glaucoma in Italian families with glaucoma.
20208534 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20198978 Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg
20198978 Observational study of gene-disease association. (HuGE Navigator)
19860791 Observational study of gene-disease association. (HuGE Navigator)
19347049 WDR36 is associated with sporadic high tension glaucoma but not with normal tension glaucoma or juvenile-onset primary open-angle glaucoma.
19347049 Observational study of gene-disease association. (HuGE Navigator)
19198610 SNPs at WDR36, IL33 and MYB that showed suggestive association with eosinophil counts were also associated with atopic asthma.
19198610 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19150991 WDR36 sequence variants can lead to an altered cellular phenotype, supporting the theory that WDR36 participates in polygenic forms of glaucoma.
19145250 Observational study of gene-disease association. (HuGE Navigator)
18195223 Timolol can reduce MYOC RNA levels in HTM cultures from some individuals. Timolol does not alter OPTN or WDR36 levels or ameliorate MYOC induction by dexamethasone in vitro.
18172102 Observational study of gene-disease association. (HuGE Navigator)
18172102 The occurrence of several rare putative disease-causing variants in patients with glaucoma suggests that WDR36 may be a minor disease-causing gene in glaucoma, at least in the German population.
17960130 Observational study of gene-disease association. (HuGE Navigator)
17960130 One nonsynonymous variant, p.S664L, and association of allelic variants (p.I264V and c.1965-30A>G) in WDR36 and their prevalence in unrelated Japanese patients with high tension glaucoma (HTG) suggest they are probably involved in pathogenesis of HTG.
17563723 WDR36 gene variants may be only rare causes of normal tension glaucoma in the German population.
17353431 Observational study of gene-disease association. (HuGE Navigator)
16966629 The finding that the WDR36 gene is probably not the responsible gene in this family further documents the genetic heterogeneity of POAG (primary open-angle glaucoma).
16876519 Observational study of gene-disease association. (HuGE Navigator)
16876519 The WDR36 D658G is a neutral variant in the Australian population.
16723468 Observational study of gene-disease association. (HuGE Navigator)
16723468 The association of WDR36 sequence variants with more severe disease in affected individuals suggests that defects in the WDR36 gene can contribute to POAG and that WDR36 may be a glaucoma modifier gene.
16518310 Our results provided mapping of a novel locus for juvenile-onset primary open angle glaucoma at 5q and excluded coding or splicing junctions mutations within the WDR36 gene.
15677485 role in etiology of both high- and low-pressure glaucoma.
15677485 First series of WDR36 mutations in subjects with high- and low-pressure adult-onset primary open angle glaucoma. First mRNA expression profiling of this gene in various ocular and non-ocular tissues for human and mouse.

AA Sequence

MCCTEGSLRKRDSQRAPEAVLCLQLWQRTVPLDTLKGLGTCFPSGPELRGAGIAAAMERASERRTASALF      1 - 70
AGFRALGLFSNDIPHVVRFSALKRRFYVTTCVGKSFHTYDVQKLSLVAVSNSVPQDICCMAADGRLVFAA     71 - 140
YGNVFSAFARNKEIVHTFKGHKAEIHFLQPFGDHIISVDTDGILIIWHIYSEEEYLQLTFDKSVFKISAI    141 - 210
LHPSTYLNKILLGSEQGSLQLWNVKSNKLLYTFPGWKVGVTALQQAPAVDVVAIGLMSGQVIIHNIKFNE    211 - 280
TLMKFRQDWGPITSISFRTDGHPVMAAGSPCGHIGLWDLEDKKLINQMRNAHSTAIAGLTFLHREPLLVT    281 - 350
NGADNALRIWIFDGPTGEGRLLRFRMGHSAPLTNIRYYGQNGQQILSASQDGTLQSFSTVHEKFNKSLGH    351 - 420
GLINKKRVKRKGLQNTMSVRLPPITKFAAEEARESDWDGIIACHQGKLSCSTWNYQKSTIGAYFLKPKEL    421 - 490
KKDDITATAVDITSCGNFAVIGLSSGTVDVYNMQSGIHRGSFGKDQAHKGSVRGVAVDGLNQLTVTTGSE    491 - 560
GLLKFWNFKNKILIHSVSLSSSPNIMLLHRDSGILGLALDDFSISVLDIETRKIVREFSGHQGQINDMAF    561 - 630
SPDGRWLISAAMDCSIRTWDLPSGCLIDCFLLDSAPLNVSMSPTGDFLATSHVDHLGIYLWSNISLYSVV    631 - 700
SLRPLPADYVPSIVMLPGTCQTQDVEVSEETVEPSDELIEYDSPEQLNEQLVTLSLLPESRWKNLLNLDV    701 - 770
IKKKNKPKEPPKVPKSAPFFIPTIPGLVPRYAAPEQNNDPQQSKVVNLGVLAQKSDFCLKLEEGLVNNKY    771 - 840
DTALNLLKESGPSGIETELRSLSPDCGGSIEVMQSFLKMIGMMLDRKRDFELAQAYLALFLKLHLKMLPS    841 - 910
EPVLLEEITNLSSQVEENWTHLQSLFNQSMCILNYLKSALL                                 911 - 951
//

Text Mined References (39)

PMID Year Title
26497787 2015 Advances in glaucoma genetics.
25711070 [Genetic studies of primary open-angle glaucoma].
24388013 2014 Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23817571 2013 Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
23817569 2013 A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22025897 2011 WDR36 variants in East Indian primary open-angle glaucoma patients.
22002106 2012 Systematic analysis of protein pools, isoforms, and modifications affecting turnover and subcellular localization.
21940795 2011 WDR36 acts as a scaffold protein tethering a G-protein-coupled receptor, G?q and phospholipase C? in a signalling complex.
21931130 2011 WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions.
21051332 2011 Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro.
20816195 2010 Analyses of shared genetic factors between asthma and obesity in children.
20813748 2011 Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.
20208534 2010 Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
20198978 2009 [Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg].
19860791 2010 Genetic evidence for a role of IL33 in nasal polyposis.
19347049 2009 Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma.
19198610 2009 Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
19150991 2009 Glaucoma-associated WDR36 variants encode functional defects in a yeast model system.
19145250 2009 Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.
18195223 2008 Effects of timolol on MYOC, OPTN, and WDR36 RNA levels.
18172102 2008 Profiling of WDR36 missense variants in German patients with glaucoma.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17960130 2007 Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese.
17563723 2007 Variations in the WDR36 gene in German patients with normal tension glaucoma.
17353431 2007 No association between variations in the WDR36 gene and primary open-angle glaucoma.
16966629 2006 The role of the WDR36 gene on chromosome 5q22.1 in a large family with primary open-angle glaucoma mapped to this region.
16876519 2006 A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant.
16723468 2006 Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma.
16518310 2006 A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.
15677485 2005 Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.
15635413 2005 Nucleolar proteome dynamics.
15590835 2004 The small-subunit processome is a ribosome assembly intermediate.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15177553 2004 T lymphocyte activation gene identification by coregulated expression on DNA microarrays.
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.