WDR19 WD repeat domain 19
Gene ID: 57728, updated on 4-Jan-2025Gene type: protein coding
Also known as: ATD5; CED4; DYF-2; FAP66; ORF26; Oseg6; PWDMP; SRTD5; CFAP66; IFT144; NPHP13; SPGF72
- See all available tests in GTR for this gene
- Go to complete Gene record for WDR19
- Go to Variation Viewer for WDR19 variants
Summary
The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Asphyxiating thoracic dystrophy 5 | See labs |
| Cranioectodermal dysplasia 4 | See labs |
| Heritability and genetic association analysis of cognition in the Diabetes Heart Study. GeneReviews: Not available | |
| Nephronophthisis 13 | See labs |
| Senior-Loken syndrome 8 | See labs |
| Spermatogenic failure 72 | See labs |
Genomic context
- Location:
- 4p14
- Sequence:
- Chromosome: 4; NC_000004.12 (39182529..39285810)
- Total number of exons:
- 37
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for WDR19 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- WDR19 @ LOVD
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