Identity
HGNC
LOCATION
10q25.1
LOCUSID
ALIAS
C10orf80,CCDC147,SPGF49,bA127L20.4,bA127L20.5,bA554P13.1
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: 159686
HGNC: 26676
Ensembl: ENSG00000120051
Variants:
dbSNP: 159686
ClinVar: 159686
TCGA: ENSG00000120051
COSMIC: CFAP58
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000120051 | ENST00000369703 | Q9H4Y4 |
| ENSG00000120051 | ENST00000369704 | Q5T655 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33314088 | 2021 | Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella. | 7 |
| 33314088 | 2021 | Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella. | 7 |
| 32791035 | 2020 | Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice. | 44 |
| 32791035 | 2020 | Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice. | 44 |
| 26762739 | 2016 | Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer. | 20 |
| 26762739 | 2016 | Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer. | 20 |
Citation
Dessen P
CFAP58 (cilia and flagella associated protein 58)
Atlas Genet Cytogenet Oncol Haematol. 2016-12-01
Online version: http://atlasgeneticsoncology.org/gene/56673/cfap58-(cilia-and-flagella-associated-protein-58)
