PCDH12

Chr 5q31.3

protocadherin 12

MANE:: ENST00000231484.4

OMIM: 605622 ↗NCBI: 51294 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PCDH12 · Q9NPG4

v62025-08-01

Predicted Aligned Error matrix for PCDH12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.9/ 100

Low

1,184 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)19%
Low(50–70)4%
Very low(< 50)42%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Microcephaly - brain defect - spasticity - hypernatremia
0.77
diencephalic-mesencephalic junction dysplasia
0.62
microcephaly
0.42
epilepsy
0.42
Intellectual disability
0.42
Coats disease
0.28
cerebellar ataxia
0.27
Dystonia
0.27
Abnormal facial shape
0.27
dystonic disorder
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protocadherin-12

Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions (By similarity). Acts as a regulator of cell migration, probably via increasing cell-cell adhesion (PubMed:21402705). Promotes homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions (By similarity). Unable to bind to catenins, weakly associates with the cytoskeleton (By similarity)