CFAP54 (cilia and flagella associated protein 54)

2014-11-01  

Identity

HGNC
CFAP54
LOCATION
12q23.1
LOCUSID
144535
ALIAS
C12orf55,C12orf63

Other Information

Locus ID:

NCBI: 144535
HGNC: 26456
Ensembl: ENSG00000188596

Variants:

dbSNP: 144535
ClinVar: 144535
TCGA: ENSG00000188596
COSMIC: CFAP54

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188596ENST00000524981Q96N23
ENSG00000188596ENST00000550977H0YIB5
ENSG00000188596ENST00000553778A0A0A0MTQ3
ENSG00000188596ENST00000637336A0A1B0GU80

Expression (GTEx)

0
1
2
3
4
5
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
365931212023Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.3
377252312023Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.1
365931212023Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.3
377252312023Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.1
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

CFAP54 (cilia and flagella associated protein 54)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61760/js/deep-insight-explorer/