RSPH3 radial spoke head 3
Gene ID: 83861, updated on 19-Sep-2024Gene type: protein coding
Also known as: RSP3; RSHL2; CILD32; dJ111C20.1
- See all available tests in GTR for this gene
- Go to complete Gene record for RSPH3
- Go to Variation Viewer for RSPH3 variants
Summary
The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide interaction study of smoking and bladder cancer risk. GeneReviews: Not available | |
| Primary ciliary dyskinesia 32 | See labs |
Genomic context
- Location:
- 6q25.3
- Sequence:
- Chromosome: 6; NC_000006.12 (158962980..159000202, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RSPH3 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
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