Identity
HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
C6orf206,CILD12,MRPS18AL1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 221421
MIM: 612648
HGNC: 21057
Ensembl: ENSG00000172426
Variants:
dbSNP: 221421
ClinVar: 221421
TCGA: ENSG00000172426
COSMIC: RSPH9
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000172426 | ENST00000372163 | Q9H1X1 |
| ENSG00000172426 | ENST00000372165 | Q9H1X1 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 22448264 | 2012 | Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. | 30 |
| 22448264 | 2012 | Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. | 30 |
| 20070851 | 2010 | Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. | 8 |
| 20070851 | 2010 | Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. | 8 |
Citation
Dessen P
RSPH9 (radial spoke head component 9)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72913/rsph9-(radial-spoke-head-component-9)
