IFT122 (intraflagellar transport 122)

2014-08-01  

Identity

HGNC
IFT122
LOCATION
3q21.3
LOCUSID
55764
ALIAS
CED,CED1,FAP80,SPG,WDR10,WDR10p,WDR140
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55764
MIM: 606045
HGNC: 13556
Ensembl: ENSG00000163913

Variants:

dbSNP: 55764
ClinVar: 55764
TCGA: ENSG00000163913
COSMIC: IFT122

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163913ENST00000296266Q9HBG6
ENSG00000163913ENST00000347300Q9HBG6
ENSG00000163913ENST00000348417Q9HBG6
ENSG00000163913ENST00000349441Q9HBG6
ENSG00000163913ENST00000431818Q9HBG6
ENSG00000163913ENST00000440957Q9HBG6
ENSG00000163913ENST00000502304H0YAG6
ENSG00000163913ENST00000502456H0YAG9
ENSG00000163913ENST00000504021Q9HBG6
ENSG00000163913ENST00000507221D6RIB5
ENSG00000163913ENST00000507564Q9HBG6
ENSG00000163913ENST00000508826H0Y8I2
ENSG00000163913ENST00000509195H0Y9Y9
ENSG00000163913ENST00000509522H0Y9Q2
ENSG00000163913ENST00000510524H0Y9E1
ENSG00000163913ENST00000511498D6R8Z2
ENSG00000163913ENST00000512157H0Y9I6
ENSG00000163913ENST00000512220D6RAF7
ENSG00000163913ENST00000514275H0Y9E5
ENSG00000163913ENST00000515783H0Y978

Expression (GTEx)

0
50
100
150
200
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
304761392019C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization.8
304761392019C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization.8
290379982018Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.3
292205102018Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.28
290379982018Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.3
292205102018Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.28
283709492017Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.9
290578572017Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.1
283709492017Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.9
290578572017Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.1
267925752016Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.8
267925752016Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.8
238269862014Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.11
238269862014Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.11
204934582010Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.102

Citation

Dessen P

IFT122 (intraflagellar transport 122)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54372/meetings/gene-fusions-explorer/css/template-card.css