AlphaFold predicted structure
MPDZ · O75970
Mean pLDDT
63.7/ 100
Low
2,070 residues
Confidence breakdown
- Very high(≥ 90)13%
- Confident(70–90)44%
- Low(50–70)5%
- Very low(< 50)38%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MPDZ
Chr 9p23multiple PDZ domain crumbs cell polarity complex component
- Aliases:
- MUPP1
- MANE:
- ENST00000319217.12
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalHydrocephalus
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
0.78hydrocephalus, nonsyndromic, autosomal recessive 2
0.70hereditary disease
0.50alcohol drinking
0.50Abnormality of the skeletal system
0.47androgenetic alopecia
0.39congenital communicating hydrocephalus
0.37stroke disorder
0.32glaucoma
0.32Inguinal hernia
0.32
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Multiple PDZ domain protein
Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses (PubMed:11150294, PubMed:15312654). Promotes clustering of HT2RC at the cell surface (By similarity)
Diseases associated with MPDZ
Curated MONDO disease pages that list MPDZ among their top associated genes.