CEP89 centrosomal protein 89
Gene ID: 84902, updated on 8-Sep-2024Gene type: protein coding
Also known as: CEP123; CCDC123
- See all available tests in GTR for this gene
- Go to complete Gene record for CEP89
- Go to Variation Viewer for CEP89 variants
Summary
Involved in non-motile cilium assembly. Acts upstream of or within cilium assembly. Located in several cellular components, including cytosol; microtubule cytoskeleton; and non-motile cilium. Part of ciliary transition fiber. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic loci influencing kidney function and chronic kidney disease. GeneReviews: Not available |
Genomic context
- Location:
- 19q13.11
- Sequence:
- Chromosome: 19; NC_000019.10 (32875925..32971958, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CEP89 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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