IFT52 (intraflagellar transport 52)

2016-10-01  

Identity

HGNC
IFT52
LOCATION
20q13.12
LOCUSID
51098
ALIAS
C20orf9,CGI-53,NGD2,NGD5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51098
MIM: 617094
HGNC: 15901
Ensembl: ENSG00000101052

Variants:

dbSNP: 51098
ClinVar: 51098
TCGA: ENSG00000101052
COSMIC: IFT52

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101052ENST00000373030Q9Y366
ENSG00000101052ENST00000373039Q9Y366

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787

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
382724492024The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies.1
382724492024The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies.1
357044712022Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies.2
358398632022The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila.2
357044712022Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies.2
358398632022The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila.2
310422812019Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.14
310422812019Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.14
302423582018IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.5
302423582018IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.5
268800182016A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.27
274661902016IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.19
268800182016A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.27
274661902016IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.19

Citation

Dessen P

IFT52 (intraflagellar transport 52)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56439/ift52-(intraflagellar-transport-52)