Identity
HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
MZSDS,RP80,SRTD9,WDTC2,c305C8.4,c380F5.1,gs114
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: 9742
MIM: 614620
HGNC: 29077
Ensembl: ENSG00000187535
Variants:
dbSNP: 9742
ClinVar: 9742
TCGA: ENSG00000187535
COSMIC: IFT140
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37844724 | 2024 | Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype. | 2 |
| 37844724 | 2024 | Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype. | 2 |
| 34890546 | 2022 | Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. | 49 |
| 34890546 | 2022 | Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. | 49 |
| 31034313 | 2019 | The Role of IFT140 in Osteogenesis of Adult Mice Long Bone. | 10 |
| 31397098 | 2019 | Novel IFT140 variants cause spermatogenic dysfunction in humans. | 11 |
| 31034313 | 2019 | The Role of IFT140 in Osteogenesis of Adult Mice Long Bone. | 10 |
| 31397098 | 2019 | Novel IFT140 variants cause spermatogenic dysfunction in humans. | 11 |
| 29111861 | 2018 | Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa. | 0 |
| 29688594 | 2018 | Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. | 10 |
| 29111861 | 2018 | Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa. | 0 |
| 29688594 | 2018 | Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. | 10 |
| 27874174 | 2017 | Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. | 10 |
| 28724397 | 2017 | Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. | 10 |
| 27874174 | 2017 | Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. | 10 |
Citation
Dessen P
IFT140 (intraflagellar transport 140)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64530/ift140-(intraflagellar-transport-140)
