CFAP206 (cilia and flagella associated protein 206)

2016-01-01  

Identity

HGNC
CFAP206
LOCATION
6q15
LOCUSID
154313
ALIAS
C6orf165,dJ382I10.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 154313
HGNC: 21405
Ensembl: ENSG00000272514

Variants:

dbSNP: 154313
ClinVar: 154313
TCGA: ENSG00000272514
COSMIC: CFAP206

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000272514ENST00000369562Q8IYR0
ENSG00000272514ENST00000480123D6RBZ4
ENSG00000272514ENST00000489338D6R9L9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
342551522021Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse.17
342551522021Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse.17

Citation

Dessen P

CFAP206 (cilia and flagella associated protein 206)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/77822/cfap206-(cilia-and-flagella-associated-protein-206)