CFAP251 (cilia and flagella associated protein 251)

2013-11-01  

Identity

HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
CaM-IP4,SPGF33,WDR66
FUSION GENES

Other Information

Locus ID:

NCBI: 144406
MIM: 618146
HGNC: 28506
Ensembl: ENSG00000158023

Variants:

dbSNP: 144406
ClinVar: 144406
TCGA: ENSG00000158023
COSMIC: CFAP251

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158023ENST00000288912Q8TBY9
ENSG00000158023ENST00000397454Q8TBY9

References

Pubmed IDYearTitleCitations
215724142011A genome-wide association study of metabolic traits in human urine.82
191102112009A genome-wide association study identifies three loci associated with mean platelet volume.41
235144072013Wdr66 is a novel marker for risk stratification and involved in epithelial-mesenchymal transition of esophageal squamous cell carcinoma.22
301225402018A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.8
303101782019Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility.7
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.6
297170282018Long non-coding RNA AK096174 promotes cell proliferation and invasion in gastric cancer by regulating WDR66 expression.2
225523372012Analysis of indel variations in the human disease-associated genes CDKN2AIP, WDR66, USP20 and OR7C2 in a Korean population.1
311401032019LIN28A-stabilized FBXL19-AS1 promotes breast cancer migration, invasion and EMT by regulating WDR66.1
305691172019PTEN downregulates WD repeat‑containing protein 66 in salivary adenoid cystic carcinoma.0

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