PCDH11Y
Protocadherin 11 Y-linked
Gene Information Card
| Symbol | PCDH11Y |
|---|---|
| Full Name | Protocadherin 11 Y-linked |
| Gene Type | Protein coding |
| Chromosomal Location | Yp11.2 |
| NCBI Gene ID | 83259 ncbi.nlm.nih.gov/gene/83259 |
| Ensembl ID | ENSG00000131002 |
| UniProt ID | Q9BZA7 |
| OMIM ID | 400022 |
| HGNC ID | 8682 |
| Aliases | PCDH22, PCDHX, PCDHY |
Description
PCDH11Y is a Y-linked gene encoding a member of the protocadherin family, which are calcium-dependent cell adhesion proteins predominantly expressed in the brain. It is involved in neuronal development, synaptic specificity, and may contribute to sex-specific differences in brain function and susceptibility to neuropsychiatric disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered protocadherin-mediated cell adhesion may disrupt neural circuit formation | Association reported in genetic studies (PMID: 17955299) |
| Schizophrenia | Dysregulation of synaptic adhesion and signaling pathways | Linkage studies implicate Yp11.2 region (PMID: 12815588) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Testis | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| U-87 MG (glioblastoma) | 9.8 | Glial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional effect |
| c.567delA (p.Lys189fs) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature truncation likely abolish protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for PCDH11Y.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) |
| • plasma membrane (GO:0005886) | • chemical synaptic transmission (GO:0007268) |
Pathways
• Cell adhesion molecules (CAMs) - Homo sapiens (human)
• Neuronal system
Protein Summary
PCDH11Y is a single-pass transmembrane protein with six extracellular cadherin repeats, a transmembrane domain, and a cytoplasmic tail. It mediates homophilic cell adhesion in the developing and adult brain, influencing neuronal connectivity and synaptic plasticity. The protein is highly conserved among primates and is expressed predominantly in the cerebral cortex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCDH11Y Knockout HEK293 Cell Line | EDJ-KQ9837 | Human | 83259 | Details Get a Quote |
| PCDH11Y Knockout HeLa Cell Line | EDJ-KQ57430 | Human | 83259 | Details Get a Quote |
| PCDH11Y Knockout A-549 Cell Line | EDJ-KQ65935 | Human | 83259 | Details Get a Quote |
| PCDH11Y Knockout HCT 116 Cell Line | EDJ-KQ74361 | Human | 83259 | Details Get a Quote |
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