CFAP74 (cilia and flagella associated protein 74)

2014-11-01  

Identity

HGNC
LOCATION
1p36.33
LOCUSID
ALIAS
C1orf222,KIAA1751
FUSION GENES

Other Information

Locus ID:

NCBI: 85452
HGNC: 29368
Ensembl: ENSG00000142609

Variants:

dbSNP: 85452
ClinVar: 85452
TCGA: ENSG00000142609
COSMIC: CFAP74

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142609ENST00000378590Q5T2D8
ENSG00000142609ENST00000493964Q9C0B2
ENSG00000142609ENST00000642590A0A2R8YEX1

Expression (GTEx)

0
5
10
15
20
25

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
360477732022Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.3
360477732022Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.3
325553132020Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.20
325553132020Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.20
215555182011The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.95
215555182011The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.95

Citation

Dessen P

CFAP74 (cilia and flagella associated protein 74)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61765/cfap74-(cilia-and-flagella-associated-protein-74)