DCHS2 (Dachsous Cadherin-Related 2)
A protocadherin involved in cell adhesion, planar cell polarity, and craniofacial development.
Gene Information Card
| Symbol | DCHS2 |
|---|---|
| Full Name | Dachsous Cadherin-Related 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 54798 ncbi.nlm.nih.gov/gene/54798 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q6V1P9 |
| OMIM ID | 612334 |
| HGNC ID | 23111 |
| Aliases | CDH27, DCHS2, PCDH27, protocadherin-27 |
Description
DCHS2 encodes a member of the dachsous subfamily of non-classical cadherins, which are large transmembrane proteins involved in calcium-dependent cell-cell adhesion and planar cell polarity (PCP) signaling. The protein contains multiple cadherin repeats, a transmembrane domain, and a cytoplasmic tail that interacts with intracellular signaling partners. DCHS2 plays critical roles in embryonic development, particularly in craniofacial morphogenesis, and its mutations are associated with orofacial clefting disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Van der Woude syndrome (VWS) | Loss-of-function mutations in DCHS2 disrupt cell adhesion and PCP signaling during palatal fusion, leading to cleft lip with or without cleft palate. | ClinVar, OMIM |
| Cleft lip/palate (non-syndromic) | Rare missense variants in DCHS2 impair protein function and contribute to isolated orofacial clefts. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.7 | Low |
| Kidney | 6.3 | Low |
| Testis | 4.1 | Low |
| Salivary gland | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.1 | Embryonic kidney cell line |
| SH-SY5Y | 9.8 | Neuroblastoma cell line |
| A549 | 7.4 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.2567G>A (p.Gly856Asp) | Missense | <0.01% | Altered cadherin domain, reduced adhesion |
| c.3456_3457del (p.Glu1152fs) | Frameshift | <0.01% | Loss of cytoplasmic domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site variants that truncate or destabilize the protein, leading to haploinsufficiency.
Gain of Function (GOF)
No documented gain-of-function mutations in DCHS2.
Dominant Negative (DN)
Missense variants in cadherin repeats may interfere with wild-type protein function 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 | • planar cell polarity pathway |
| • cell-cell junction | • plasma membrane |
Pathways
• Planar Cell Polarity (PCP) Pathway
• Cadherin Signaling Pathway
Protein Summary
DCHS2 is a 3303-amino acid transmembrane protocadherin with 27 cadherin repeats, a single transmembrane domain, and a cytoplasmic region containing conserved motifs for interaction with intracellular effectors. It localizes to cell-cell junctions and mediates homophilic adhesion. Through its role in PCP signaling, DCHS2 coordinates tissue polarity and morphogenetic movements during development, particularly in the palate and neural tube.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCHS2 Knockout HEK293 Cell Line | EDJ-KQ12330 | Human | 54798 | Details Get a Quote |
| DCHS2 Knockout HeLa Cell Line | EDJ-KQ56475 | Human | 54798 | Details Get a Quote |
| DCHS2 Knockout A-549 Cell Line | EDJ-KQ64967 | Human | 54798 | Details Get a Quote |
| DCHS2 Knockout HCT 116 Cell Line | EDJ-KQ73413 | Human | 54798 | Details Get a Quote |
