IFT52

Chr 20q13.12

intraflagellar transport 52

Aliases:: CGI-53, NGD5, dJ1028D15.1, NGD2
MANE:: ENST00000373030.8

OMIM: 617094 ↗NCBI: 51098 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

IFT52 · Q9Y366

v62025-08-01

Predicted Aligned Error matrix for IFT52 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.3/ 100

Confident

437 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)45%
Low(50–70)6%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Thoracic dystrophies
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

short-rib thoracic dysplasia 16 with or without polydactyly
0.73
short rib-polydactyly syndrome
0.50
cranioectodermal dysplasia
0.38
short rib dysplasia
0.37
type 2 diabetes mellitus
0.24
pathological myopia
0.23
ciliopathy
0.02
age-related macular degeneration
0.01
gastrointestinal stromal tumor
0.01
Short ribs
0.01

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

Protein function (UniProt)

Intraflagellar transport protein 52 homolog

Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190)