CDH12: Cadherin 12 (N-Cadherin 2)
A type II classical cadherin involved in neural development and synaptic plasticity, with implications in neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | CDH12 |
|---|---|
| Full Name | Cadherin 12 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5p14.3 |
| NCBI Gene ID | 1010 ncbi.nlm.nih.gov/gene/1010 |
| Ensembl ID | ENSG00000113594 |
| UniProt ID | P55289 |
| OMIM ID | 600562 |
| HGNC ID | 1753 |
| Aliases | CDH12, N-cadherin 2, cadherin-12, brain cadherin |
Description
CDH12 encodes a type II classical cadherin, a calcium-dependent cell adhesion protein predominantly expressed in the nervous system. It plays a critical role in neural development, neurite outgrowth, and synaptic organization. The protein is a transmembrane glycoprotein that mediates homophilic cell-cell adhesion and is involved in the formation and maintenance of neuronal circuits. Variants in CDH12 have been associated with neurodevelopmental disorders, including autism spectrum disorder and schizophrenia, and altered expression is observed in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Disruption of cadherin-mediated cell adhesion during neurodevelopment may impair synaptic connectivity and neural circuit formation. | ClinVar, OMIM |
| Schizophrenia | Genetic variants in CDH12 may affect neuronal migration and synaptic plasticity, contributing to disease risk. | NCBI Gene, OMIM |
| Epithelial ovarian cancer | Altered CDH12 expression may influence tumor cell adhesion and metastasis. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Testis | 4.1 | Low |
| Spinal cord | 3.2 | Low |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 9.8 | Astrocytoma |
| MCF7 (breast cancer) | 2.1 | Low expression |
| HeLa (cervical cancer) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Gly72Arg) | Missense | <0.01% | Unknown; reported in autism spectrum disorder |
| c.1024C>T (p.Arg342Trp) | Missense | <0.01% | Unknown; reported in schizophrenia |
| c.1567delC (p.Leu523Trpfs*12) | Frameshift | <0.01% | Loss of function; predicted to cause protein truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein are predicted to cause loss of cell adhesion function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CDH12.
Dominant Negative (DN)
Missense mutations in the extracellular cadherin repeats may interfere with homophilic binding, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • cell adhesion |
| • homophilic cell adhesion via plasma membrane adhesion molecules | • plasma membrane |
| • integral component of membrane | • synapse assembly |
| • neuron projection development |
Pathways
• Cell adhesion molecules (CAMs)
• N-cadherin signaling pathway
• Neuronal system
Protein Summary
Cadherin-12 (CDH12) is a 794-amino acid type II classical cadherin with an N-terminal signal peptide, five extracellular cadherin repeats, a transmembrane domain, and a cytoplasmic tail. It mediates calcium-dependent homophilic cell adhesion and is essential for neural development, including neurite outgrowth and synapse formation. The protein is predominantly expressed in the brain and is implicated in neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH12 Knockout HEK293 Cell Line | EDJ-KQ4238 | Human | 1010 | Details Get a Quote |
| CDH12 Knockout HeLa Cell Line | EDJ-KQ26709 | Human | 1010 | Details Get a Quote |
| 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 |
| CDH12 Knockout A-549 Cell Line | EDJ-KQ61325 | Human | 1010 | Details Get a Quote |
| PCDH12 Knockout A-549 Cell Line | EDJ-KQ64761 | Human | 51294 | Details Get a Quote |
| CDH12 Knockout HCT 116 Cell Line | EDJ-KQ69823 | Human | 1010 | Details Get a Quote |
| PCDH12 Knockout HCT 116 Cell Line | EDJ-KQ73209 | Human | 51294 | Details Get a Quote |
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