IFT140

Chr 16p13.3

intraflagellar transport 140

Aliases:: gs114, KIAA0590
MANE:: ENST00000426508.7

OMIM: 614620 ↗NCBI: 9742 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

IFT140 · Q96RY7

v62025-08-01

Predicted Aligned Error matrix for IFT140 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.1/ 100

Confident

1,462 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)69%
Low(50–70)7%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

short-rib thoracic dysplasia 9 with or without polydactyly
0.85
cystic kidney disease
0.75
retinitis pigmentosa
0.67
Jeune syndrome
0.67
autosomal dominant polycystic kidney disease
0.64
urinary system disorder
0.58
kidney disorder
0.57
retinitis pigmentosa 80
0.57
Retinal dystrophy
0.57
Renal cyst
0.55

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Intraflagellar transport protein 140 homolog

Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs) (PubMed:20889716, PubMed:22503633, PubMed:36775821). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance (PubMed:22503633). Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (By similarity)

Curated MONDO disease pages that list IFT140 among their top associated genes.

kidney disorderRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with IFT140