IFT43 (intraflagellar transport 43)

2014-11-01  

Identity

HGNC
IFT43
LOCATION
14q24.3
LOCUSID
112752
ALIAS
C14orf179,CED3,RP81,SRTD18
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 112752
MIM: 614068
HGNC: 29669
Ensembl: ENSG00000119650

Variants:

dbSNP: 112752
ClinVar: 112752
TCGA: ENSG00000119650
COSMIC: IFT43

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119650ENST00000238628Q96FT9
ENSG00000119650ENST00000238628A0A024R6A9
ENSG00000119650ENST00000314067Q96FT9
ENSG00000119650ENST00000542766Q96FT9
ENSG00000119650ENST00000555370G3V4X2
ENSG00000119650ENST00000556742Q96FT9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

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
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
213783802011C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.64
289736842017A mutation in IFT43 causes non-syndromic recessive retinal degeneration.2
267401772016CED-4 is an mRNA-binding protein that delivers ced-3 mRNA to ribosomes.1

Citation

Dessen P

IFT43 (intraflagellar transport 43)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64534/ift43