AlphaFold predicted structure
RBP4 · P02753
Mean pLDDT
90.3/ 100
Very high
201 residues
Confidence breakdown
- Very high(≥ 90)79%
- Confident(70–90)9%
- Low(50–70)9%
- Very low(< 50)4%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
RBP4
Chr 10q23.33retinol binding protein 4
- MANE:
- ENST00000371464.8
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLikely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalRetinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalStructural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOcular coloboma
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Glaucoma (developmental)
Disease associations (Open Targets)
progressive retinal dystrophy due to retinol transport defect
0.70microphthalmia, isolated, with coloboma 10
0.64microphthalmia, isolated, with coloboma
0.51microphthalmia
0.50Retinal dystrophy
0.42coloboma
0.41Bilateral microphthalmos
0.41retinitis pigmentosa
0.40congenital stationary night blindness
0.39reticular dystrophy of the retinal pigment epithelium
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Retinol-binding protein 4
Retinol-binding protein that mediates retinol transport in blood plasma (PubMed:5541771). Delivers retinol from the liver stores to the peripheral tissues (Probable). Transfers the bound all-trans retinol to STRA6, that then facilitates retinol transport across the cell membrane (PubMed:22665496)