PCDH11X Gene - Protocadherin 11 X-Linked
Comprehensive gene card for PCDH11X: genomic context, expression, mutations, and disease associations
Gene Information Card
| Symbol | PCDH11X |
|---|---|
| Full Name | Protocadherin 11 X-Linked |
| Gene Type | Protein coding |
| Chromosomal Location | Xq21.31 |
| NCBI Gene ID | 83259 ncbi.nlm.nih.gov/gene/83259 |
| Ensembl ID | ENSG00000102290 |
| UniProt ID | Q9BZA7 |
| OMIM ID | 300246 |
| HGNC ID | 8691 |
| Aliases | PCDH11, PCDHX, PCDH11X, PCDHX11 |
Description
PCDH11X (Protocadherin 11 X-Linked) is a protein-coding gene located on the X chromosome. It encodes a member of the protocadherin family, which are calcium-dependent cell adhesion proteins involved in neural development and synaptic function. The gene is expressed predominantly in the brain and is implicated in neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered cell adhesion and synaptic signaling | Association studies (PMID: 17955262) |
| Schizophrenia | Disrupted neural connectivity | Genetic association (PMID: 21572416) |
| Intellectual disability | Loss of protocadherin function in neuronal development | Rare variant studies (PMID: 24055113) |
| Breast cancer | Aberrant expression and potential oncogenic role | Expression profiling (PMID: 25691885) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Lung | 1.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| U-87 MG (glioblastoma) | 6.3 | Brain tumor line |
| MCF7 (breast cancer) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to premature termination and likely loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported in PCDH11X.
Dominant Negative (DN)
No dominant-negative mutations reported in PCDH11X.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell adhesion molecules (CAMs) - Homo sapiens (human) - KEGG: hsa04514
• Neuronal system - Reactome: R-HSA-112316
Protein Summary
The PCDH11X protein is a member of the protocadherin family, characterized by extracellular cadherin repeats and a cytoplasmic domain. It mediates calcium-dependent cell-cell adhesion and is critical for neuronal connectivity and synaptic organization. The protein is predominantly expressed in the brain and plays roles in neural development and plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCDH11X Knockout HEK293 Cell Line | EDJ-KQ8010 | Human | 27328 | Details Get a Quote |
| PCDH11X Knockout HeLa Cell Line | EDJ-KQ56058 | Human | 27328 | Details Get a Quote |
| PCDH11X Knockout A-549 Cell Line | EDJ-KQ64542 | Human | 27328 | Details Get a Quote |
| PCDH11X Knockout HCT 116 Cell Line | EDJ-KQ73001 | Human | 27328 | Details Get a Quote |
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