Property Summary

NCBI Gene PubMed Count 14
Grant Count 11
R01 Count 11
Funding $659,882.72
PubMed Score 16.57
PubTator Score 14.19

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Gene RIF (6)

PMID Text
25908617 Splicing variants in WDR35, and possibly in other IFT-A components, underlie a number of Ellis-van Creveld syndrome cases by disrupting targeting of both the EvC complex and Smoothened to cilia.
22987818 A pathogenic WDR35 mutation was identified in a family with a complex clinical presentation that includes significant overlap of the phenotypes described in Sensenbrenner syndrome and the unclassified short-rib polydactyly syndromes.
22486404 report on the detection of novel WDR35 mutations in two unrelated cranioectodermal dysplasia patients
21473986 Through structural modeling, we show that WDR35 has strong homology to the COPI coatamers involved in vesicular trafficking and that short-rib polydactyly mutations affect key structural elements in WDR35.
20817137 WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder.
20193664 These results indicated that naofen may function as a novel modulator activating caspase-3, and promoting TNF-alpha-stimulated apoptosis.

AA Sequence

MFFYLSKKISIPNNVKLQCVSWNKEQGFIACGGEDGLLKVLKLETQTDDAKLRGLAAPSNLSMNQTLEGH      1 - 70
SGSVQVVTWNEQYQKLTTSDENGLIIVWMLYKGSWIEEMINNRNKSVVRSMSWNADGQKICIVYEDGAVI     71 - 140
VGSVDGNRIWGKDLKGIQLSHVTWSADSKVLLFGMANGEIHIYDNQGNFMIKMKLSCLVNVTGAISIAGI    141 - 210
HWYHGTEGYVEPDCPCLAVCFDNGRCQIMRHENDQNPVLIDTGMYVVGIQWNHMGSVLAVAGFQKAAMQD    211 - 280
KDVNIVQFYTPFGEHLGTLKVPGKEISALSWEGGGLKIALAVDSFIYFANIRPNYKWGYCSNTVVYAYTR    281 - 350
PDRPEYCVVFWDTKNNEKYVKYVKGLISITTCGDFCILATKADENHPQEENEMETFGATFVLVLCNSIGT    351 - 420
PLDPKYIDIVPLFVAMTKTHVIAASKEAFYTWQYRVAKKLTALEINQITRSRKEGRERIYHVDDTPSGSM    421 - 490
DGVLDYSKTIQGTRDPICAITASDKILIVGRESGTIQRYSLPNVGLIQKYSLNCRAYQLSLNCNSSRLAI    491 - 560
IDISGVLTFFDLDARVTDSTGQQVVGELLKLERRDVWDMKWAKDNPDLFAMMEKTRMYVFRNLDPEEPIQ    561 - 630
TSGYICNFEDLEIKSVLLDEILKDPEHPNKDYLINFEIRSLRDSRALIEKVGIKDASQFIEDNPHPRLWR    631 - 700
LLAEAALQKLDLYTAEQAFVRCKDYQGIKFVKRLGKLLSESMKQAEVVGYFGRFEEAERTYLEMDRRDLA    701 - 770
IGLRLKLGDWFRVLQLLKTGSGDADDSLLEQANNAIGDYFADRQKWLNAVQYYVQGRNQERLAECYYMLE    771 - 840
DYEGLENLAISLPENHKLLPEIAQMFVRVGMCEQAVTAFLKCSQPKAAVDTCVHLNQWNKAVELAKNHSM    841 - 910
KEIGSLLARYASHLLEKNKTLDAIELYRKANYFFDAAKLMFKIADEEAKKGSKPLRVKKLYVLSALLIEQ    911 - 980
YHEQMKNAQRGKVKGKSSEATSALAGLLEEEVLSTTDRFTDNAWRGAEAYHFFILAQRQLYEGCVDTALK    981 - 1050
TALHLKDYEDIIPPVEIYSLLALCACASRAFGTCSKAFIKLKSLETLSSEQKQQYEDLALEIFTKHTSKD   1051 - 1120
NRKPELDSLMEGGEGKLPTCVATGSPITEYQFWMCSVCKHGVLAQEISHYSFCPLCHSPVG            1121 - 1181
//

Text Mined References (16)

PMID Year Title
27158779 2016 The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
25908617 2015 Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
22987818 2012 WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.
22751097 2012 Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
22486404 2013 Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
21473986 2011 Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
20889716 2010 TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia.
20817137 2010 Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
20193664 2010 Naofen, a novel WD40-repeat protein, mediates spontaneous and tumor necrosis factor-induced apoptosis.
19450523 2009 SnapShot: Intraflagellar transport.
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