WDR19: WD Repeat Domain 19
A key component of the intraflagellar transport complex, associated with ciliopathies
Gene Information Card
| Symbol | WDR19 |
|---|---|
| Full Name | WD repeat domain 19 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p14 |
| NCBI Gene ID | 57728 ncbi.nlm.nih.gov/gene/57728 |
| Ensembl ID | ENSG00000157796 |
| UniProt ID | Q8NEZ3 |
| OMIM ID | 608151 |
| HGNC ID | 18340 |
| Aliases | IFT144, NPHP13, SRTD5, CED4, DYF-2, ORF26 |
Description
WDR19 (WD repeat domain 19) encodes a protein that is a core component of the intraflagellar transport (IFT) complex A. This complex is essential for the retrograde transport of cargo along ciliary microtubules, playing a critical role in the assembly and maintenance of primary cilia. Mutations in WDR19 disrupt ciliary function and lead to a spectrum of ciliopathies, including nephronophthisis, Jeune syndrome, and other skeletal and renal disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 13 (NPHP13) | Loss of function of WDR19 impairs retrograde IFT, leading to defective ciliary signaling and renal tubular degeneration. | OMIM #614377 |
| Jeune syndrome (asphyxiating thoracic dystrophy 5, SRTD5) | WDR19 mutations disrupt ciliary function in chondrocytes, causing skeletal abnormalities including narrow thorax and short limbs. | OMIM #611263 |
| Cranioectodermal dysplasia 4 (CED4) | Defective IFT due to WDR19 mutations affects craniofacial and ectodermal development. | OMIM #614378 |
| Senior-Løken syndrome 5 (SLSN5) | WDR19 mutations cause both renal (nephronophthisis) and retinal (retinitis pigmentosa) degeneration. | OMIM #610189 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 24.1 | High |
| Kidney | 18.5 | High |
| Lung | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Liver | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.4 | Embryonic kidney cells |
| HeLa | 11.2 | Cervical cancer cells |
| A549 | 9.8 | Lung carcinoma cells |
| HepG2 | 7.1 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3712C>T (p.Arg1238Ter) | Nonsense | Rare | Loss of function; truncation of IFT144 protein |
| c.1675G>A (p.Gly559Arg) | Missense | Rare | Impaired IFT complex assembly |
| c.2146C>T (p.Arg716Trp) | Missense | Rare | Reduced ciliary localization |
| c.4003C>T (p.Arg1335Ter) | Nonsense | Rare | Loss of function; associated with Jeune syndrome |
Mutation functional classification
Loss of Function (LOF)
Most WDR19 mutations are loss-of-function, leading to truncated or unstable protein, disrupting retrograde IFT and ciliary maintenance.
Gain of Function (GOF)
No gain-of-function mutations have been reported for WDR19.
Dominant Negative (DN)
No dominant-negative mutations have been described; all known pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • intraflagellar transport complex A (GO:0030992) |
| • intraciliary retrograde transport (GO:0035721) | • cilium assembly (GO:0060271) |
| • cilium (GO:0005929) |
Pathways
• Intraflagellar transport (IFT) - retrograde transport
• Ciliary assembly and disassembly
• Hedgehog signaling pathway
Protein Summary
The WDR19 protein, also known as IFT144, is a 1342-amino acid protein containing multiple WD40 repeats. It is a core component of the IFT-A complex, which mediates retrograde transport from the ciliary tip to the base. The protein localizes to the basal body and axoneme of primary cilia. Loss of WDR19 function leads to ciliary defects, impaired Hedgehog signaling, and multisystemic ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR19 Knockout HEK293 Cell Line | EDJ-KQ16131 | Human | 57728 | Details Get a Quote |
| WDR19 Knockout HCT 116 Cell Line | EDJ-KQ46081 | Human | 57728 | Details Get a Quote |
| WDR19 Knockout A-549 Cell Line | EDJ-KQ47309 | Human | 57728 | Details Get a Quote |
| WDR19 Knockout HeLa Cell Line | EDJ-KQ47311 | Human | 57728 | Details Get a Quote |
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