IFT122 (intraflagellar transport 122)

2014-08-01 Affiliation

Identity

HGNC

IFT122

LOCATION

3q21.3

LOCUSID

55764

ALIAS

CED,CED1,FAP80,SPG,WDR10,WDR10p,WDR140

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000163913	ENST00000296266	Q9HBG6
ENSG00000163913	ENST00000347300	Q9HBG6
ENSG00000163913	ENST00000348417	Q9HBG6
ENSG00000163913	ENST00000349441	Q9HBG6
ENSG00000163913	ENST00000431818	Q9HBG6
ENSG00000163913	ENST00000440957	Q9HBG6
ENSG00000163913	ENST00000502304	H0YAG6
ENSG00000163913	ENST00000502456	H0YAG9
ENSG00000163913	ENST00000504021	Q9HBG6
ENSG00000163913	ENST00000507221	D6RIB5
ENSG00000163913	ENST00000507564	Q9HBG6
ENSG00000163913	ENST00000508826	H0Y8I2
ENSG00000163913	ENST00000509195	H0Y9Y9
ENSG00000163913	ENST00000509522	H0Y9Q2
ENSG00000163913	ENST00000510524	H0Y9E1
ENSG00000163913	ENST00000511498	D6R8Z2
ENSG00000163913	ENST00000512157	H0Y9I6
ENSG00000163913	ENST00000512220	D6RAF7
ENSG00000163913	ENST00000514275	H0Y9E5
ENSG00000163913	ENST00000515783	H0Y978

Expression (GTEx)

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

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Intraflagellar transport	REACTOME	R-HSA-5620924
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Hedgehog	REACTOME	R-HSA-5358351
Hedgehog 'off' state	REACTOME	R-HSA-5610787

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20493458	2010	Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.	79
29220510	2018	Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.	9
23826986	2014	Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.	5
28370949	2017	Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.	5
26792575	2016	Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.	4
29037998	2018	Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.	2
30476139	2019	C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization.	1
29057857	2017	Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.	0

Citation

Dessen P

IFT122 (intraflagellar transport 122)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54372/ift122-(intraflagellar-transport-122)