WDR19
Developmental stage
Expressed in fetal lung.
Function
As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly (PubMed:20889716). Essential for functional IFT-A assembly and ciliary entry of GPCRs (PubMed:20889716). Associates with the BBSome complex to mediate ciliary transport (By similarity).
Involvement in disease
Cranioectodermal dysplasia 4
CED4
A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described.
None
The disease is caused by variants affecting the gene represented in this entry.
Short-rib thoracic dysplasia 5 with or without polydactyly
SRTD5
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Nephronophthisis 13
NPHP13
An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
None
The disease is caused by variants affecting the gene represented in this entry.
Senior-Loken syndrome 8
SLSN8
A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Spermatogenic failure 72
SPGF72
An autosomal recessive male infertility disorder characterized by asthenoteratospermia and multiple morphologic abnormalities of the flagella, including coiled, short, angulated, absent, and irregular-caliber flagella, resulting in absent sperm motility.
None
The disease may be caused by variants affecting the gene represented in this entry.
Tissue Specificity
Some isoforms are tissue-specific. Highly expressed in the prostate. Lower expression in the cerebellum, pituitary gland, fetal lung, and pancreas. In normal prostate, expressed in both basal and luminal epithelial cells. No expression detected in fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes. Uniformed expression in prostate adenocarcinoma cells.
Cellular localization
- Cell projection
- Cilium
- Cytoplasm
- Cytoskeleton
- Cilium basal body
- Cell projection
- Cilium
- Photoreceptor outer segment
- Cell projection
- Cilium
- Flagellum
- Localizes to photoreceptor connecting cilia, to the base of motile cilia in brain ependymal cells and to the base of and along primary cilia in kidney cells. Localizes at the sperm neck and flagellum (PubMed:32323121).
Alternative names
IFT144, KIAA1638, WDR19, WD repeat-containing protein 19, Intraflagellar transport 144 homolog