CFAP43 (cilia and flagella associated protein 43)

2014-11-01  

Identity

HGNC
CFAP43
LOCATION
10q25.1
LOCUSID
80217
ALIAS
C10orf79,HYDNP1,SPGF19,WDR96,bA373N18.2

Other Information

Locus ID:

NCBI: 80217
MIM: 617558
HGNC: 26684
Ensembl: ENSG00000197748

Variants:

dbSNP: 80217
ClinVar: 80217
TCGA: ENSG00000197748
COSMIC: CFAP43

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197748ENST00000278064Q5TA04
ENSG00000197748ENST00000357060Q8NDM7
ENSG00000197748ENST00000369719Q5TA05
ENSG00000197748ENST00000369720A0A0C4DFU9
ENSG00000197748ENST00000434629H7BZT8
ENSG00000197748ENST00000457071H0Y4U9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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

References

Pubmed IDYearTitleCitations
341003912021Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families.5
341003912021Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families.5
322075502020Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella.3
322075502020Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella.3
292771462019Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).9
309043542019NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF).14
310040712019Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.39
292771462019Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).9
309043542019NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF).14
310040712019Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.39
294495512018Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.83
294495512018Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.83
285521952017Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.110
285521952017Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.110
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105

Citation

Dessen P

CFAP43 (cilia and flagella associated protein 43)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61755