PCDH12
Protocadherin 12: A Cell Adhesion Molecule Implicated in Neurodevelopment and Vascular Integrity
Gene Information Card
| Symbol | PCDH12 |
|---|---|
| Full Name | Protocadherin 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 51294 ncbi.nlm.nih.gov/gene/51294 |
| Ensembl ID | ENSG00000113555 |
| UniProt ID | Q9NPG4 |
| OMIM ID | 605622 |
| HGNC ID | 8657 |
| Aliases | VE-cadherin-2, protocadherin-12, vascular endothelial cadherin-2 |
Description
PCDH12 encodes protocadherin 12, a member of the protocadherin family of calcium-dependent cell adhesion molecules. It is predominantly expressed in the brain and vascular endothelium, where it plays a role in neural development, synaptic function, and blood-brain barrier integrity. Mutations in PCDH12 are associated with neurodevelopmental disorders and vascular abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with or without variable movement abnormalities | Loss-of-function mutations impair cell adhesion and signaling in neural cells | ClinVar, OMIM |
| Cerebral small vessel disease | Disruption of endothelial junction integrity leads to vascular fragility | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants may alter synaptic adhesion and neuronal connectivity | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Heart | 6.1 | Low |
| Kidney | 4.3 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| HUVEC (endothelial) | 20.3 | Vascular model |
| HEK293 (embryonic kidney) | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.106C>T (p.Arg36Ter) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Likely damaging; reported in autism spectrum disorder |
| c.1234del (p.Leu412TrpfsTer5) | Frameshift | Rare | Loss of function; linked to cerebral small vessel disease |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing cell adhesion and signaling.
Gain of Function (GOF)
Not reported for PCDH12.
Dominant Negative (DN)
Not reported for PCDH12.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • cell adhesion |
| • homophilic cell adhesion via plasma membrane adhesion molecules | • plasma membrane |
| • synapse |
Pathways
• Cell adhesion molecules (CAMs)
• Cadherin signaling pathway
Protein Summary
Protocadherin 12 is a transmembrane protein with extracellular cadherin repeats that mediate homophilic cell adhesion. It is involved in neural circuit formation and maintenance of endothelial barrier function. The protein is localized at cell-cell junctions and interacts with other adhesion molecules to regulate cellular cohesion and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCDH12 Knockout HEK293 Cell Line | EDJ-KQ51303 | Human | 51294 | Details Get a Quote |
| PCDH12 Knockout HeLa Cell Line | EDJ-KQ56273 | Human | 51294 | Details Get a Quote |
| PCDH12 Knockout A-549 Cell Line | EDJ-KQ64761 | Human | 51294 | Details Get a Quote |
| PCDH12 Knockout HCT 116 Cell Line | EDJ-KQ73209 | Human | 51294 | Details Get a Quote |
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