IFT27

Chr 22q12.3

intraflagellar transport 27

Aliases:: RAYL, BBS19, FAP156, CFAP156
MANE:: ENST00000433985.7

OMIM: 615870 ↗NCBI: 11020 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

IFT27 · Q9BW83

v62025-08-01

Predicted Aligned Error matrix for IFT27 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.7/ 100

Very high

186 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)15%
Low(50–70)5%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bardet Biedl syndrome
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Bardet-Biedl syndrome
0.77
Jeune syndrome
0.43
ciliopathy
0.38
polydactyly
0.37
smoking initiation
0.29
bilirubin metabolism disease
0.27
Dental malocclusion
0.22
hereditary disease
0.19
Retinal dystrophy
0.14
optic atrophy
0.11

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

Protein function (UniProt)

Intraflagellar transport protein 27 homolog

Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25443296, PubMed:40384633). Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6 (PubMed:25443296). Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity)