IFT140

Curated reports relevant to this gene

• Polycystic Kidney Disease

  • A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.

    • ClinGen rates the link definitive
    • 3 GenCC submitters rate it definitive or strong

    What knowing changes

    Tolvaptan (Jynarque, FDA 2018) for rapidly progressive ADPKD; blood pressure control (target <110/75); pain management; cyst infection treatment; brain MRA screening for intracranial aneurysms; kidney transplantation for ESRD

Broader groupings

• Retinitis Pigmentosa

  • One of 77 genes linked to it

    A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

    • 1 GenCC submitter rates it definitive or strong

How IFT140 is laid out

Exons make up 5.2 kb of the gene's 101.6 kb; 4,389 of those bases code for the protein.

How a genome test reads IFT140

Genes linked to the same conditions

• ABCA4ATP binding cassette subfamily A member 4Shares 1 condition
• AGBL5AGBL carboxypeptidase 5Shares 1 condition
• AHRaryl hydrocarbon receptorShares 1 condition
• ALG5ALG5 dolichyl-phosphate beta-glucosyltransferaseShares 1 condition
• ALG8ALG8 alpha-1,3-glucosyltransferaseShares 1 condition
• ALG9ALG9 alpha-1,2-mannosyltransferaseShares 1 condition
• ARHGEF18Rho/Rac guanine nucleotide exchange factor 18Shares 1 condition
• ARL2BPARF like GTPase 2 binding proteinShares 1 condition
• ARL3ARF like GTPase 3Shares 1 condition
• ARL6ARF like GTPase 6Shares 1 condition
• BBS2Bardet-Biedl syndrome 2Shares 1 condition
• BEST1bestrophin 1Shares 1 condition

Traits linked to IFT140

The Human Phenotype Ontology lists these as features of the rare conditions IFT140 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

• HGNC: the gene's symbol, name, other symbols and location.
• MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
• GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
• The ACMG secondary findings list, SF v3.2.
• ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
• The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
• Data release 2026.10.16-c6eea6bf.

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