RSPH3 Chromosome 6
Radial spoke head 3
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What This Gene Does
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]
Gene Info
Gene Group
Axonemal radial spoke subunits
Locus Type
gene with protein product
Location
6q25.3
Ensembl
ENSG00000130363
Associated Conditions (6)
Primary ciliary dyskinesia 32
Inborn genetic diseases
RSPH3-related disorder
Cervical cancer
Clear cell carcinoma of kidney
Colon adenocarcinoma
Key Variants
RS199716916
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 32, Inborn genetic diseases, RSPH3-related disorder
Health Risk
RS200757145
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 32, Inborn genetic diseases, Primary ciliary dyskinesia 32
Health Risk
RS201137146
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 32, Inborn genetic diseases, Primary ciliary dyskinesia 32
Health Risk
RS556783606
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 32, Inborn genetic diseases, Primary ciliary dyskinesia 32
Health Risk
RS754166423
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 32, Inborn genetic diseases, Primary ciliary dyskinesia 32
Health Risk
RS78116655
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 32, Inborn genetic diseases, Primary ciliary dyskinesia 32
Health Risk
RS1554289977
Likely pathogenic
Health Risk
RS1778238126
Likely pathogenic
Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
Health Risk
RS2128607933
Likely pathogenic
Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
Health Risk
RS765099471
Likely pathogenic
RSPH3-related disorder, RSPH3-related disorder
Health Risk
RS1158185476
Pathogenic
Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
Health Risk
RS1350940598
Pathogenic
Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199716916 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 32, Inborn genetic diseases, RSPH3-related disorder |
| RS200757145 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 32, Inborn genetic diseases, Primary ciliary dyskinesia 32 |
| RS201137146 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 32, Inborn genetic diseases, Primary ciliary dyskinesia 32 |
| RS556783606 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 32, Inborn genetic diseases, Primary ciliary dyskinesia 32 |
| RS754166423 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 32, Inborn genetic diseases, Primary ciliary dyskinesia 32 |
| RS78116655 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 32, Inborn genetic diseases, Primary ciliary dyskinesia 32 |
| RS1554289977 | Health Risk | Likely pathogenic | — |
| RS1778238126 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS2128607933 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS765099471 | Health Risk | Likely pathogenic | RSPH3-related disorder, RSPH3-related disorder |
| RS1158185476 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS1350940598 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS142800871 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, RSPH3-related disorder, Clear cell carcinoma of kidney |
| RS1443891718 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS1778006795 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS1778783139 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS1778794132 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS2484884689 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS374014611 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS752134900 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS760122351 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS767979912 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS775284185 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS776355208 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS796052117 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS796052118 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS796052119 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS875989825 | Health Risk | Pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS751193355 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS757935663 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32 |
| RS758891825 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32, Colon adenocarcinoma |