CFAP53 (cilia and flagella associated protein 53)

2014-11-01  

Identity

HGNC
LOCATION
18q21.1
LOCUSID
ALIAS
CCDC11,HTX6
FUSION GENES

Other Information

Locus ID:

NCBI: 220136
MIM: 614759
HGNC: 26530
Ensembl: ENSG00000172361

Variants:

dbSNP: 220136
ClinVar: 220136
TCGA: ENSG00000172361
COSMIC: CFAP53

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172361ENST00000398545Q96M91

Expression (GTEx)

0
50
100
150
200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
225772262012A human laterality disorder associated with recessive CCDC11 mutation.9
255045772015Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.8
265317812016A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.3
286214232017Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans.1

Citation

Dessen P

CFAP53 (cilia and flagella associated protein 53)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61759/cfap53-(cilia-and-flagella-associated-protein-53)