Identity
HGNC
LOCATION
Xp21.1
LOCUSID
ALIAS
CHDC2,CXorf22,CXorf30,CXorf59,SPGF52,SPGFX3
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: 286464
HGNC: 26708
Ensembl: ENSG00000165164
Variants:
dbSNP: 286464
ClinVar: 286464
TCGA: ENSG00000165164
COSMIC: CFAP47
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37723893 | 2024 | Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD. | 1 |
| 37723893 | 2024 | Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD. | 1 |
| 37424856 | 2023 | A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella. | 0 |
| 37424856 | 2023 | A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella. | 0 |
| 36571501 | 2022 | WDR87 interacts with CFAP47 protein in the middle piece of spermatozoa flagella to participate in sperm tail assembly. | 2 |
| 36571501 | 2022 | WDR87 interacts with CFAP47 protein in the middle piece of spermatozoa flagella to participate in sperm tail assembly. | 2 |
| 33472045 | 2021 | Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. | 39 |
| 33472045 | 2021 | Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. | 39 |
Citation
Dessen P
CFAP47 (cilia and flagella associated protein 47)
Atlas Genet Cytogenet Oncol Haematol. 2015-06-01
Online version: http://atlasgeneticsoncology.org/gene/76555/cfap47-(cilia-and-flagella-associated-protein-47)
