AlphaFold predicted structure
PDIA6 · Q15084
Mean pLDDT
86.8/ 100
Confident
440 residues
Confidence breakdown
- Very high(≥ 90)65%
- Confident(70–90)22%
- Low(50–70)6%
- Very low(< 50)7%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PDIA6
Chr 2p25.1protein disulfide isomerase family A member 6
- Aliases:
- P5, ERp5
- MANE:
- ENST00000272227.8
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalCystic kidney disease
BIALLELIC, autosomal or pseudoautosomalNeonatal diabetes
BIALLELIC, autosomal or pseudoautosomalRenal ciliopathies
BIALLELIC, autosomal or pseudoautosomalSkeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
neurodegenerative disease
0.53mathematical ability
0.34diabetes mellitus
0.27microcephaly
0.27Meckel syndrome
0.26Polycystic kidney dysplasia
0.26spondylolisthesis
0.23immune system disorder
0.22skin disorder
0.19pachyonychia congenita
0.09
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Protein disulfide-isomerase A6
May function as a chaperone that inhibits aggregation of misfolded proteins (PubMed:12204115). Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1, which in turn inactivates ERN1 signaling (PubMed:24508390). May also regulate the UPR via the EIF2AK3 UPR sensor (PubMed:24508390). Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin (PubMed:15466936)