AlphaFold predicted structure
DNAJC12 · Q9UKB3
Mean pLDDT
68.4/ 100
Low
198 residues
Confidence breakdown
- Very high(≥ 90)34%
- Confident(70–90)11%
- Low(50–70)25%
- Very low(< 50)29%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
DNAJC12
Chr 10q21.3DnaJ heat shock protein family (Hsp40) member C12
- Aliases:
- JDP1
- MANE:
- ENST00000225171.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalNeurotransmitter disorders
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalParkinson Disease and Complex Parkinsonism
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
hyperphenylalaninemia due to DNAJC12 deficiency
0.78hereditary disease
0.41atrial fibrillation
0.39autoimmune disorder of musculoskeletal system
0.31open-angle glaucoma
0.11lung carcinoma
0.09heart disorder
0.09hypertensive disorder
0.09non-small cell lung carcinoma
0.08lung cancer
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
DnaJ homolog subfamily C member 12
Probable co-chaperone that participates in the proper folding of biopterin-dependent aromatic amino acid hydroxylases, which include phenylalanine-4-hydroxylase (PAH), tyrosine 3-monooxygenase (TH) and peripheral and neuronal tryptophan hydroxylases (TPH1 and TPH2)