Identity
HGNC
LOCATION
3q21.3
LOCUSID
ALIAS
CED,CED1,FAP80,SPG,WDR10,WDR10p,WDR140
FUSION GENES
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
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30476139 | 2019 | C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization. | 8 |
| 30476139 | 2019 | C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization. | 8 |
| 29037998 | 2018 | Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. | 3 |
| 29220510 | 2018 | Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis. | 28 |
| 29037998 | 2018 | Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. | 3 |
| 29220510 | 2018 | Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis. | 28 |
| 28370949 | 2017 | Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. | 9 |
| 29057857 | 2017 | Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene. | 1 |
| 28370949 | 2017 | Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. | 9 |
| 29057857 | 2017 | Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene. | 1 |
| 26792575 | 2016 | Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. | 8 |
| 26792575 | 2016 | Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. | 8 |
| 23826986 | 2014 | Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. | 11 |
| 23826986 | 2014 | Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. | 11 |
| 20493458 | 2010 | Cranioectodermal 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/ift122-(intraflagellar-transport-122)
