CDH9 (Cadherin 9) Gene: Structure, Function, and Disease Associations
Comprehensive biomedical overview of the CDH9 gene, including genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | CDH9 |
|---|---|
| Full Name | cadherin 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p14.1 |
| NCBI Gene ID | 1007 ncbi.nlm.nih.gov/gene/1007 |
| Ensembl ID | ENSG00000113161 |
| UniProt ID | Q9ULB5 |
| OMIM ID | 609008 |
| HGNC ID | 1754 |
| Aliases | T1-cadherin, cadherin-9 |
Description
CDH9 (cadherin 9) encodes a classical cadherin, a calcium-dependent cell adhesion glycoprotein. Cadherins mediate homophilic cell-cell adhesion and are critical for tissue morphogenesis, maintenance of epithelial integrity, and neural development. CDH9 is specifically expressed in the brain and testis, and its dysregulation has been implicated in neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered cell adhesion affecting neuronal connectivity | ClinVar: multiple reports of rare variants in ASD cohorts |
| Schizophrenia | Disrupted synaptic adhesion and signaling | OMIM: 609008; association studies |
| Colorectal cancer | Downregulation of CDH9 may promote invasion and metastasis | COSMIC: somatic mutations and expression changes |
| Testicular germ cell tumors | Aberrant cadherin expression linked to tumor progression | NCBI Gene: expression data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Heart | 1.2 | Low |
| Liver | 0.5 | Not detected |
| Kidney | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| NTERA-2 (testicular embryonal carcinoma) | 9.8 | Germ cell tumor line |
| HEK293 (embryonic kidney) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.184G>A (p.Gly62Arg) | Missense | Rare | Alters calcium-binding domain; likely loss of adhesion |
| c.1021C>T (p.Arg341Trp) | Missense | Rare | Located in EC3 domain; potential dominant-negative effect |
| c.1450_1451del (p.Leu484fs) | Frameshift | Very rare | Truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein lacking transmembrane domain.
Gain of Function (GOF)
Not reported in CDH9.
Dominant Negative (DN)
Missense mutations in extracellular cadherin repeats may interfere with wild-type cadherin adhesion.
View complete mutation data：
Gene Ontology (GO)
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • calcium ion binding (GO:0005509) |
| • membrane (GO:0016020) | • plasma membrane (GO:0005886) |
| • cell adhesion (GO:0007155) |
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Adherens junction – KEGG hsa04520
• Wnt signaling pathway (cadherin-mediated) – Reactome R-HSA-4086400
Protein Summary
Cadherin-9 (CDH9) is a 788-amino acid single-pass type I membrane protein. It contains five extracellular cadherin repeats, a transmembrane region, and a cytoplasmic domain that interacts with catenins to link to the actin cytoskeleton. The protein mediates homophilic cell-cell adhesion in neural and testicular tissues. Structural integrity depends on calcium binding in the extracellular repeats.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH9 Knockout HEK293 Cell Line | EDJ-KQ4236 | Human | 1007 | Details Get a Quote |
| PCDH9 Knockout HEK293 Cell Line | EDJ-KQ5411 | Human | 5101 | Details Get a Quote |
| PCDH9 Knockout A-549 Cell Line | EDJ-KQ28576 | Human | 5101 | Details Get a Quote |
| CDH9 Knockout HeLa Cell Line | EDJ-KQ52857 | Human | 1007 | Details Get a Quote |
| PCDH9 Knockout HeLa Cell Line | EDJ-KQ54090 | Human | 5101 | Details Get a Quote |
| CDH9 Knockout A-549 Cell Line | EDJ-KQ61322 | Human | 1007 | Details Get a Quote |
| CDH9 Knockout HCT 116 Cell Line | EDJ-KQ69820 | Human | 1007 | Details Get a Quote |
| PCDH9 Knockout HCT 116 Cell Line | EDJ-KQ71048 | Human | 5101 | Details Get a Quote |
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