AlphaFold predicted structure
ABCG5 · Q9H222
Mean pLDDT
85.1/ 100
Confident
651 residues
Confidence breakdown
- Very high(≥ 90)58%
- Confident(70–90)28%
- Low(50–70)7%
- Very low(< 50)7%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ABCG5
Chr 2p21ATP binding cassette subfamily G member 5
- Aliases:
- STSL
- MANE:
- ENST00000405322.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomalFamilial hypercholesterolaemia
BIALLELIC, autosomal or pseudoautosomalInherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalRare anaemia
BIALLELIC, autosomal or pseudoautosomalSitosterolaemia
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
sitosterolemia
0.80sitosterolemia 2
0.72cholelithiasis
0.70sitosterolemia 1
0.63Abnormality of the cardiovascular system
0.55Disorder of lipid metabolism
0.55metabolic disease
0.53Hypercholesterolemia
0.52gallstones
0.50Cholecystitis
0.49
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
ATP-binding cassette sub-family G member 5
ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11138003, PubMed:15054092, PubMed:27144356). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11138003, PubMed:15054092). The heterodimer with ABCG8 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356)
Diseases associated with ABCG5
Curated MONDO disease pages that list ABCG5 among their top associated genes.