IFT140 (intraflagellar transport 140)

2014-11-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
MZSDS,RP80,SRTD9,WDTC2,c305C8.4,c380F5.1,gs114
FUSION GENES

Other Information

Locus ID:

NCBI: 9742
MIM: 614620
HGNC: 29077
Ensembl: ENSG00000187535

Variants:

dbSNP: 9742
ClinVar: 9742
TCGA: ENSG00000187535
COSMIC: IFT140

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187535ENST00000361339Q96RY7
ENSG00000187535ENST00000397417J3KPW0
ENSG00000187535ENST00000426508Q96RY7
ENSG00000187535ENST00000568837I3L0Y8
ENSG00000187535ENST00000569646H3BNC5
ENSG00000187535ENST00000569812H3BTA5

Expression (GTEx)

0
10
20
30
40
50
60

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

References

Pubmed IDYearTitleCitations
225036332012Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.67
222825952012Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation.52
234180202013Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.38
262160562015Mutations in human IFT140 cause non-syndromic retinal degeneration.19
269687352016Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.10
246986272014Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.6
278741742017Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.5
287243972017Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.5
263593402016The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.4
313970982019Novel IFT140 variants cause spermatogenic dysfunction in humans.3

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)