AlphaFold predicted structure
POC5 · Q8NA72
Mean pLDDT
64.0/ 100
Low
575 residues
Confidence breakdown
- Very high(≥ 90)33%
- Confident(70–90)6%
- Low(50–70)12%
- Very low(< 50)49%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
POC5
Chr 5q13.3POC5 centriolar protein
- Aliases:
- FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5
- MANE:
- ENST00000428202.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalRhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalAcute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomalMonogenic diabetes
BIALLELIC, autosomal or pseudoautosomalSevere insulin resistance and lipodystrophy syndromes
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
diabetes mellitus
0.63Retinal dystrophy
0.57Abnormality of the skeletal system
0.55inherited retinal dystrophy
0.53Abnormal muscle physiology
0.53kidney failure
0.53lipodystrophy
0.53acute kidney injury
0.53Renal insufficiency
0.53obesity disorder
0.49
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Centrosomal protein POC5
Essential for the assembly of the distal half of centrioles, required for centriole elongation (PubMed:19349582, PubMed:32946374). Acts as a negative regulator of centriole elongation (PubMed:37934472)
Diseases associated with POC5
Curated MONDO disease pages that list POC5 among their top associated genes.