Entity Details

Primary name WDR35
Entity type gene
Source Source Link

Details

PrimaryID57539
RefseqGeneNG_021212
SymbolWDR35
NameWD repeat domain 35
Chromosome2
Location2p24.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsWDR35_HUMAN

GO terms

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GOName
GO:0005813 centrosome
GO:0005929 cilium
GO:0005930 axoneme
GO:0009636 response to toxic substance
GO:0010629 negative regulation of gene expression
GO:0030991 intraciliary transport particle A
GO:0032496 response to lipopolysaccharide
GO:0035721 intraciliary retrograde transport
GO:0035735 intraciliary transport involved in cilium assembly
GO:0036064 ciliary basal body
GO:0042073 intraciliary transport
GO:0043065 positive regulation of apoptotic process
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0045019 negative regulation of nitric oxide biosynthetic process
GO:0060271 cilium assembly
GO:0061512 protein localization to cilium
GO:0071333 cellular response to glucose stimulus
GO:0071356 cellular response to tumor necrosis factor
GO:0090200 positive regulation of release of cytochrome c from mitochondria
GO:0097421 liver regeneration
GO:0097542 ciliary tip
GO:1905705 cellular response to paclitaxel
GO:1990830 cellular response to leukemia inhibitory factor

Diseases

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Disease IDSourceNameDescription
614091 OMIMShort-rib thoracic dysplasia 7 with or without polydactyly (SRTD7)A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD7 hallmarks are acromesomelic hypomineralization, campomelia, polysyndactyly, laterality defects, and cystic kidneys. The disease is caused by variants affecting the gene represented in this entry. WDR35 mutations cause short rib-polydactyly syndrome through impaired cilia formation. Primary fibroblasts from SRTD7 patients lacking WDR35 fail to produce cilia (PubMed:21473986).
614091 OMIMShort-rib thoracic dysplasia 7 with or without polydactyly (SRTD7)A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD7 hallmarks are acromesomelic hypomineralization, campomelia, polysyndactyly, laterality defects, and cystic kidneys. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. SRTD7/20 can be caused by co-occurrence of WDR35 variant p.Trp311Leu and INTU p.Gln276Ter. One such patient has been reported.
613610 OMIMCranioectodermal dysplasia 2 (CED2)A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities include widely spaced, hypoplastic and fused teeth. The disease is caused by variants affecting the gene represented in this entry.