DCHS1 (Dachsous Cadherin-Related 1)
A key regulator of planar cell polarity and tissue morphogenesis; mutations linked to Van Maldergem syndrome and various cancers.
Gene Information Card
| Symbol | DCHS1 |
|---|---|
| Full Name | Dachsous Cadherin-Related 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 8642 ncbi.nlm.nih.gov/gene/8642 |
| Ensembl ID | ENSG00000166341 |
| UniProt ID | Q96J82 |
| OMIM ID | 603057 |
| HGNC ID | 13681 |
| Aliases | CDH19, CDH20, DCHS, FCDH, PCDH16, PCDH19, PCDH20 |
Description
DCHS1 encodes a large cadherin-like protein that functions as a cell adhesion molecule and is a core component of the planar cell polarity (PCP) signaling pathway. It is essential for oriented cell division, tissue morphogenesis, and organ development. Mutations in DCHS1 cause Van Maldergem syndrome (VMLDS1) and are implicated in various cancers, including breast and colorectal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Van Maldergem syndrome 1 (VMLDS1) | Loss-of-function mutations disrupt PCP signaling, leading to craniofacial, skeletal, and intellectual disability. | OMIM #601390; ClinVar |
| Breast cancer | Somatic mutations and altered expression contribute to tumor progression and metastasis. | COSMIC; NCBI |
| Colorectal cancer | Frequent mutations and copy number alterations affect cell adhesion and polarity. | COSMIC; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | Medium |
| Lung | 8.7 | Low |
| Brain | 6.5 | Low |
| Heart | 4.2 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.6 | Moderate expression |
| A549 (lung cancer) | 9.8 | Low expression |
| HEK293 (embryonic kidney) | 22.1 | High expression |
| HCT116 (colorectal cancer) | 18.4 | Moderate expression |
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; truncation of protein |
| c.2567G>A (p.Gly856Asp) | Missense | 0.02% | Alters cadherin domain; reduced cell adhesion |
| c.3456_3457del (p.Glu1152fs) | Frameshift | <0.01% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that lead to truncated or absent protein, causing Van Maldergem syndrome.
Gain of Function (GOF)
Not well documented; some missense variants may enhance signaling in cancer.
Dominant Negative (DN)
Missense mutations in cadherin repeats can interfere with wild-type protein function, contributing to PCP defects.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • homophilic cell adhesion via plasma membrane adhesion molecules |
| • planar cell polarity pathway | • calcium ion binding |
| • cadherin binding |
Pathways
• Planar Cell Polarity (PCP) pathway
• Wnt signaling pathway
• Cell-cell adhesion
Protein Summary
DCHS1 is a large transmembrane cadherin (approximately 3300 amino acids) with 27 cadherin repeats, a transmembrane domain, and a cytoplasmic tail. It interacts with FAT4 to regulate PCP and Hippo signaling. The protein is involved in oriented cell division, cell migration, and tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCHS1 Knockout HEK293 Cell Line | EDJ-KQ6312 | Human | 8642 | Details Get a Quote |
| DCHS1 Knockout HeLa Cell Line | EDJ-KQ54966 | Human | 8642 | Details Get a Quote |
| DCHS1 Knockout A-549 Cell Line | EDJ-KQ63448 | Human | 8642 | Details Get a Quote |
| DCHS1 Knockout HCT 116 Cell Line | EDJ-KQ71916 | Human | 8642 | Details Get a Quote |
