IFT43

Chr 14q24.3

intraflagellar transport 43

Aliases:: FLJ32173, MGC16028
MANE:: ENST00000314067.11

OMIM: 614068 ↗NCBI: 112752 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

IFT43 · Q96FT9

v62025-08-01

Predicted Aligned Error matrix for IFT43 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.3/ 100

Low

208 residues

Confidence breakdown

Very high(≥ 90)10%
Confident(70–90)24%
Low(50–70)39%
Very low(< 50)28%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Thoracic dystrophies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

+6 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

cranioectodermal dysplasia
0.70
cranioectodermal dysplasia 3
0.68
short-rib thoracic dysplasia 18 with polydactyly
0.66
retinitis pigmentosa
0.50
short rib dysplasia
0.46
retinitis pigmentosa 81
0.42
short rib-polydactyly syndrome
0.33
smoking initiation
0.26
ovarian dysfunction
0.26
migraine disorder
0.25

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

Protein function (UniProt)

Intraflagellar transport protein 43 homolog

As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis (PubMed:28400947, PubMed:28973684). Involved in retrograde ciliary transport along microtubules from the ciliary tip to the base (PubMed:21378380)