ARL2BP

Chr 16q13

ARF like GTPase 2 binding protein

Aliases:: BART1, BART
MANE:: ENST00000219204.8

OMIM: 615407 ↗NCBI: 23568 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ARL2BP · Q9Y2Y0

v62025-08-01

Predicted Aligned Error matrix for ARL2BP — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.8/ 100

Confident

163 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)25%
Low(50–70)22%
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
Laterality disorders and isomerism
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa with or without situs inversus
0.70
retinitis pigmentosa
0.69
Retinal dystrophy
0.44
autosomal recessive retinitis pigmentosa
0.42
situs inversus
0.38
ciliopathy
0.37
hereditary disease
0.19
nasopharyngeal carcinoma
0.09
Cone rod dystrophy
0.09
Progressive cone dystrophy
0.09

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

Protein function (UniProt)

ADP-ribosylation factor-like protein 2-binding protein

Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2