Identity
HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
CaM-IP4,SPGF33,WDR66
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: 144406
MIM: 618146
HGNC: 28506
Ensembl: ENSG00000158023
Variants:
dbSNP: 144406
ClinVar: 144406
TCGA: ENSG00000158023
COSMIC: CFAP251
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000158023 | ENST00000288912 | Q8TBY9 |
| ENSG00000158023 | ENST00000397454 | Q8TBY9 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31975383 | 2020 | Eukaryotic initiation Factor 4AIII facilitates hepatocellular carcinoma cell proliferation, migration, and epithelial-mesenchymal transition process via antagonistically binding to WD repeat domain 66 with miRNA-2113. | 9 |
| 32161152 | 2020 | Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility. | 25 |
| 31975383 | 2020 | Eukaryotic initiation Factor 4AIII facilitates hepatocellular carcinoma cell proliferation, migration, and epithelial-mesenchymal transition process via antagonistically binding to WD repeat domain 66 with miRNA-2113. | 9 |
| 32161152 | 2020 | Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility. | 25 |
| 30310178 | 2019 | Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility. | 31 |
| 30569117 | 2019 | PTEN downregulates WD repeat‑containing protein 66 in salivary adenoid cystic carcinoma. | 4 |
| 31140103 | 2019 | LIN28A-stabilized FBXL19-AS1 promotes breast cancer migration, invasion and EMT by regulating WDR66. | 10 |
| 30310178 | 2019 | Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility. | 31 |
| 30569117 | 2019 | PTEN downregulates WD repeat‑containing protein 66 in salivary adenoid cystic carcinoma. | 4 |
| 31140103 | 2019 | LIN28A-stabilized FBXL19-AS1 promotes breast cancer migration, invasion and EMT by regulating WDR66. | 10 |
| 30122540 | 2018 | A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility. | 39 |
| 30122540 | 2018 | A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility. | 39 |
| 23514407 | 2013 | Wdr66 is a novel marker for risk stratification and involved in epithelial-mesenchymal transition of esophageal squamous cell carcinoma. | 49 |
| 23514407 | 2013 | Wdr66 is a novel marker for risk stratification and involved in epithelial-mesenchymal transition of esophageal squamous cell carcinoma. | 49 |
| 22552337 | 2012 | Analysis of indel variations in the human disease-associated genes CDKN2AIP, WDR66, USP20 and OR7C2 in a Korean population. | 1 |
Citation
Dessen P
CFAP251 (cilia and flagella associated protein 251)
Atlas Genet Cytogenet Oncol Haematol. 2013-11-01
Online version: http://atlasgeneticsoncology.org/gene/53608/cfap251-(cilia-and-flagella-associated-protein-251)
