IFT74 (intraflagellar transport 74)

2016-10-01  

Identity

HGNC
IFT74
LOCATION
9p21.2
LOCUSID
80173
ALIAS
CCDC2,CMG-1,CMG1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80173
MIM: 608040
HGNC: 21424
Ensembl: ENSG00000096872

Variants:

dbSNP: 80173
ClinVar: 80173
TCGA: ENSG00000096872
COSMIC: IFT74

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000096872ENST00000380062Q96LB3
ENSG00000096872ENST00000429045Q96LB3
ENSG00000096872ENST00000433700Q96LB3
ENSG00000096872ENST00000443698Q96LB3
ENSG00000096872ENST00000517444E5RGX6
ENSG00000096872ENST00000517866E5RIF0
ENSG00000096872ENST00000518614E5RJK3
ENSG00000096872ENST00000519968E5RH29
ENSG00000096872ENST00000648373A0A3B3IT46

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

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
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
373150792023IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.4
375556482023Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.1
373150792023IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.4
375556482023Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.1
348886422022Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.14
348886422022Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.14
335316682021Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.18
336890142021A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.13
337489492021Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.8
335316682021Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.18
336890142021A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.13
337489492021Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.8
239905612013Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.169
239905612013Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.169
173830542008Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis.5

Citation

Dessen P

IFT74 (intraflagellar transport 74)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56478/haematological-explorer/js/template.js