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: 345895
MIM: 612647
HGNC: 21558
Ensembl: ENSG00000111834
Variants:
dbSNP: 345895
ClinVar: 345895
TCGA: ENSG00000111834
COSMIC: RSPH4A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000111834 | ENST00000229554 | Q5TD94 |
| ENSG00000111834 | ENST00000368580 | Q5TD94 |
| ENSG00000111834 | ENST00000368581 | Q5TD94 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36768259 | 2023 | The RSPH4A Gene in Primary Ciliary Dyskinesia. | 4 |
| 36768259 | 2023 | The RSPH4A Gene in Primary Ciliary Dyskinesia. | 4 |
| 33852348 | 2021 | Structural insights into the cause of human RSPH4A primary ciliary dyskinesia. | 10 |
| 33852348 | 2021 | Structural insights into the cause of human RSPH4A primary ciliary dyskinesia. | 10 |
| 28939216 | 2018 | A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia. | 16 |
| 28939216 | 2018 | A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia. | 16 |
| 25789548 | 2015 | Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. | 59 |
| 25789548 | 2015 | Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. | 59 |
| 23798057 | 2013 | Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. | 32 |
| 23798057 | 2013 | Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. | 32 |
| 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 |
Citation
Dessen P
RSPH4A (radial spoke head component 4A)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72911/rsph4a-(radial-spoke-head-component-4a)
