CDH19: Cadherin 19
A type II classical cadherin involved in neural crest cell development and Schwann cell differentiation
Gene Information Card
| Symbol | CDH19 |
|---|---|
| Full Name | Cadherin 19 |
| Gene Type | Protein-coding |
| Chromosomal Location | 18q22.1 |
| NCBI Gene ID | 28513 ncbi.nlm.nih.gov/gene/28513 |
| Ensembl ID | ENSG00000134371 |
| UniProt ID | Q9H159 |
| OMIM ID | 603016 |
| HGNC ID | 1757 |
| Aliases | CDH7L2, cadherin-19, type II cadherin 19 |
Description
CDH19 encodes cadherin 19, a type II classical cadherin transmembrane glycoprotein that mediates calcium-dependent cell-cell adhesion. It is predominantly expressed in neural crest-derived cells, including Schwann cell precursors, and plays a critical role in peripheral nerve development and myelination. Mutations in CDH19 are associated with hereditary sensory and autonomic neuropathy type IIC (HSAN2C).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary sensory and autonomic neuropathy type IIC (HSAN2C) | Loss-of-function mutations in CDH19 disrupt Schwann cell adhesion and differentiation, impairing peripheral nerve function. | ClinVar, OMIM |
| Neurocristopathy | CDH19 dysfunction affects neural crest cell migration and differentiation, contributing to developmental disorders. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Peripheral nerve | 12.5 | Medium |
| Skin | 8.2 | Low |
| Brain | 6.1 | Low |
| Testis | 4.3 | Low |
| Thyroid | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Schwann cells | 15.0 | Primary culture |
| SK-N-SH (neuroblastoma) | 8.5 | Cancer cell line |
| HEK293 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.496C>T (p.Arg166*) | Nonsense | Rare | Loss of function; truncation of cadherin 19 protein |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Impaired cell adhesion; associated with HSAN2C |
| c.1687delC (p.Leu563Trpfs*12) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg166*, p.Leu563Trpfs*12) lead to truncated or absent cadherin 19, disrupting Schwann cell adhesion and peripheral nerve development.
Gain of Function (GOF)
No gain-of-function mutations reported for CDH19.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly375Arg) may exert dominant-negative effects by interfering with cadherin dimerization and adhesion.
View complete mutation data：
Gene Ontology (GO)
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • calcium ion binding (GO:0005509) |
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • cell adhesion (GO:0007155) |
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Cadherin signaling pathway – Reactome R-HSA-418990
Protein Summary
Cadherin 19 is a 772-amino acid type II classical cadherin with an extracellular domain containing five cadherin repeats, a single transmembrane domain, and a cytoplasmic tail that interacts with catenins to link to the actin cytoskeleton. It is essential for calcium-dependent homophilic cell adhesion in neural crest-derived cells, particularly Schwann cell precursors, and is required for proper peripheral nerve myelination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH19 Knockout HEK293 Cell Line | EDJ-KQ8883 | Human | 28513 | Details Get a Quote |
| PCDH19 Knockout HEK293 Cell Line | EDJ-KQ14701 | Human | 57526 | Details Get a Quote |
| CDH19 Knockout A-549 Cell Line | EDJ-KQ35207 | Human | 28513 | Details Get a Quote |
| CDH19 Knockout HeLa Cell Line | EDJ-KQ56074 | Human | 28513 | Details Get a Quote |
| PCDH19 Knockout HeLa Cell Line | EDJ-KQ56858 | Human | 57526 | Details Get a Quote |
| PCDH19 Knockout A-549 Cell Line | EDJ-KQ65371 | Human | 57526 | Details Get a Quote |
| CDH19 Knockout HCT 116 Cell Line | EDJ-KQ73016 | Human | 28513 | Details Get a Quote |
| PCDH19 Knockout HCT 116 Cell Line | EDJ-KQ73809 | Human | 57526 | Details Get a Quote |
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