CFAP65 (cilia and flagella associated protein 65)

2016-01-01  

Identity

HGNC
CFAP65
LOCATION
2q35
LOCUSID
255101
ALIAS
CCDC108,SPGF40

Other Information

Locus ID:

NCBI: 255101
MIM: 614270
HGNC: 25325
Ensembl: ENSG00000181378

Variants:

dbSNP: 255101
ClinVar: 255101
TCGA: ENSG00000181378
COSMIC: CFAP65

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181378ENST00000295729Q6ZU64
ENSG00000181378ENST00000341552Q6ZU64
ENSG00000181378ENST00000409865Q6ZU64
ENSG00000181378ENST00000410037Q6ZU64
ENSG00000181378ENST00000413871H7C0B4
ENSG00000181378ENST00000436631C9JIV0
ENSG00000181378ENST00000441968Q49A14
ENSG00000181378ENST00000453220Q6ZU64
ENSG00000181378ENST00000457968C9JVA0
ENSG00000181378ENST00000458526C9JLP9

Expression (GTEx)

0
5
10
15
20
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
N/A

References

Pubmed IDYearTitleCitations
314131222019Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations.0

Citation

Dessen P

CFAP65 (cilia and flagella associated protein 65)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/77823/cfap65