CDH8 Gene: Cadherin 8
A type II classical cadherin involved in neural development and implicated in neurodevelopmental disorders
Gene Information Card
| Symbol | CDH8 |
|---|---|
| Full Name | cadherin 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q21 |
| NCBI Gene ID | 1006 ncbi.nlm.nih.gov/gene/1006 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | P55286 |
| OMIM ID | 603008 |
| HGNC ID | 1767 |
| Aliases | cadherin-8, N-cadherin-2 |
Description
CDH8 encodes cadherin 8, a type II classical cadherin that mediates calcium-dependent cell-cell adhesion. It is predominantly expressed in the nervous system and plays a critical role in neural development, including neurite outgrowth, synapse formation, and maintenance of neuronal circuits. Mutations and copy number variations in CDH8 have been associated with neurodevelopmental disorders such as autism spectrum disorder, schizophrenia, and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Loss-of-function variants disrupt cell adhesion in developing neural circuits | ClinVar, OMIM |
| Schizophrenia | Rare missense and truncating variants impair synaptic adhesion | ClinVar, NCBI |
| Intellectual disability | De novo deletions and missense mutations reduce cadherin function | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Testis | 1.2 | Not detected |
| Heart | 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 origin |
| HEK 293 (embryonic kidney) | 0.3 | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1753C>T (p.Arg585Trp) | Missense | Rare | Loss of adhesive function |
| c.2269C>T (p.Arg757Ter) | Nonsense | Rare | Premature truncation, loss of function |
| 16q21 deletion (encompassing CDH8) | Copy number loss | 0.1% in ASD cohorts | Haploinsufficiency |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay; deletions causing haploinsufficiency.
Gain of Function (GOF)
Not reported for CDH8.
Dominant Negative (DN)
Missense variants that disrupt cadherin dimerization or adhesion without complete loss of protein.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Adherens junction – KEGG hsa04520
• Neuronal system – Reactome R-HSA-112316
Protein Summary
Cadherin 8 is a 799-amino acid single-pass type I membrane protein with five extracellular cadherin repeats, a transmembrane domain, and a cytoplasmic tail. It mediates homophilic calcium-dependent cell-cell adhesion. The protein is highly expressed in the brain, particularly in the cerebral cortex and hippocampus, and is essential for proper neuronal migration, dendrite arborization, and synapse formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH8 Knockout HEK293 Cell Line | EDJ-KQ3531 | Human | 1006 | Details Get a Quote |
| CDH8 Knockout A-549 Cell Line | EDJ-KQ25373 | Human | 1006 | Details Get a Quote |
| CDH8 Knockout HeLa Cell Line | EDJ-KQ52856 | Human | 1006 | Details Get a Quote |
| CDH8 Knockout HCT 116 Cell Line | EDJ-KQ69819 | Human | 1006 | Details Get a Quote |
