CFAP44 (cilia and flagella associated protein 44)

2014-11-01  

Identity

HGNC
CFAP44
LOCATION
3q13.2
LOCUSID
55779
ALIAS
SPGF20,WDR52
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55779
MIM: 617559
HGNC: 25631
Ensembl: ENSG00000206530

Variants:

dbSNP: 55779
ClinVar: 55779
TCGA: ENSG00000206530
COSMIC: CFAP44

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000206530ENST00000295868Q96MT7
ENSG00000206530ENST00000393845Q96MT7
ENSG00000206530ENST00000461734H0Y896
ENSG00000206530ENST00000465186H7C512
ENSG00000206530ENST00000473143C9K0A4
ENSG00000206530ENST00000488854F8WEX0
ENSG00000206530ENST00000489244H0Y883
ENSG00000206530ENST00000489938A0A1D5RMR1
ENSG00000206530ENST00000490481H7C591

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
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133950441hmg coa reductase inhibitorsChemicalClinicalAnnotationassociatedPD25602530

References

Pubmed IDYearTitleCitations
285521952017Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.35
294495512018Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.25
292771462019Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).4
309043542019NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF).4
256025302015The rs13064411 polymorphism in the WDR52 gene, associated with PCSK9 levels, modifies statin-induced changes in serum total and LDL cholesterol levels.2

Citation

Dessen P

CFAP44 (cilia and flagella associated protein 44)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61756/cfap44