PCDH17
Protocadherin 17: A Calcium-Dependent Cell Adhesion Molecule Implicated in Neurodevelopmental and Psychiatric Disorders
Gene Information Card
| Symbol | PCDH17 |
|---|---|
| Full Name | Protocadherin 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q21.1 |
| NCBI Gene ID | 27253 ncbi.nlm.nih.gov/gene/27253 |
| Ensembl ID | ENSG00000134871 |
| UniProt ID | Q8VEM3 |
| OMIM ID | 609844 |
| HGNC ID | 14267 |
| Aliases | PCDH68, PCDH-17, PCDH68L |
Description
PCDH17 (protocadherin 17) is a member of the protocadherin family, a subgroup of the cadherin superfamily. It encodes a transmembrane protein with extracellular cadherin repeats that mediate calcium-dependent cell-cell adhesion. PCDH17 is predominantly expressed in the nervous system and plays a role in neuronal development, synaptic plasticity, and axon guidance. Genetic variants in PCDH17 have been associated with neurodevelopmental disorders including autism spectrum disorder, schizophrenia, and bipolar disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Rare copy number variants and missense mutations may disrupt cell adhesion and neuronal connectivity | ClinVar, NCBI |
| Schizophrenia | SNPs in PCDH17 linked to altered brain structure and synaptic function | OMIM, NCBI |
| Bipolar disorder | Association studies implicate PCDH17 in mood regulation pathways | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Testis | 4.1 | Low |
| Heart | 1.2 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 9.8 | Glial model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% (gnomAD) | May alter cadherin domain structure; associated with autism |
| c.567delG (p.Gly190Valfs*12) | Frameshift | Rare | Loss of function; reported in schizophrenia |
| c.2101G>A (p.Gly701Arg) | Missense | 0.005% | Uncertain significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Gly190Valfs*12) lead to truncated protein and loss of cell adhesion function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in cadherin repeats (e.g., p.Arg412Cys) may interfere with dimerization and adhesion.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • cell adhesion |
| • homophilic cell adhesion via plasma membrane adhesion molecules | • plasma membrane |
| • synapse | • neuron projection |
Pathways
• Cell adhesion molecules (CAMs)
• Cadherin signaling pathway
Protein Summary
Protocadherin 17 is a 951-amino acid transmembrane protein containing 6 extracellular cadherin domains, a single transmembrane region, and a cytoplasmic tail. It mediates calcium-dependent homophilic cell adhesion and is involved in neuronal migration, dendrite arborization, and synapse formation. The protein is highly expressed in the brain, particularly in the cerebral cortex and hippocampus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCDH17 Knockout HEK293 Cell Line | EDJ-KQ8731 | Human | 27253 | Details Get a Quote |
| PCDH17 Knockout HeLa Cell Line | EDJ-KQ56040 | Human | 27253 | Details Get a Quote |
| PCDH17 Knockout A-549 Cell Line | EDJ-KQ64526 | Human | 27253 | Details Get a Quote |
| PCDH17 Knockout HCT 116 Cell Line | EDJ-KQ72984 | Human | 27253 | Details Get a Quote |
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