AlphaFold predicted structure
ACTN4 · O43707
Mean pLDDT
84.1/ 100
Confident
911 residues
Confidence breakdown
- Very high(≥ 90)47%
- Confident(70–90)41%
- Low(50–70)7%
- Very low(< 50)5%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ACTN4
Chr 19q13.2actinin alpha 4
- MANE:
- ENST00000252699.7
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedUnexplained kidney failure in young people
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
focal segmental glomerulosclerosis 1
0.77familial idiopathic steroid-resistant nephrotic syndrome
0.56neurodegenerative disease
0.28focal segmental glomerulosclerosis
0.21hereditary disease
0.19kidney disorder
0.16nephrotic syndrome
0.13chronic kidney disease
0.13preeclampsia
0.13Transient global amnesia
0.12
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Alpha-actinin-4
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778). Association with IGSF8 regulates the immune synapse formation and is required for efficient T-cell activation (PubMed:22689882)