AlphaFold predicted structure
BCAS3 · Q9H6U6
Mean pLDDT
64.6/ 100
Low
928 residues
Confidence breakdown
- Very high(≥ 90)31%
- Confident(70–90)17%
- Low(50–70)12%
- Very low(< 50)40%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
BCAS3
Chr 17q23.2BCAS3 microtubule associated cell migration factor
- Aliases:
- FLJ20128, PHAF2
- MANE:
- ENST00000407086.8
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Hengel-Maroofian-Schols syndrome
0.72gout
0.47Global developmental delay
0.41coronary artery disorder
0.40open-angle glaucoma
0.40anemia
0.39nodular goiter
0.38hypertensive disorder
0.37glaucoma
0.37urolithiasis
0.36
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
BCAS3 microtubule associated cell migration factor
Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin. Plays a regulatory role in autophagic activity. In complex with PHAF1, associates with the preautophagosomal structure during both non-selective and selective autophagy (PubMed:33499712). Probably binds phosphatidylinositol 3-phosphate (PtdIns3P) which would mediate the recruitment preautophagosomal structures (PubMed:33499712)
Diseases associated with BCAS3
Curated MONDO disease pages that list BCAS3 among their top associated genes.