CELSR2
Cadherin EGF LAG Seven-Pass G-Type Receptor 2
Gene Information Card
| Symbol | CELSR2 |
|---|---|
| Full Name | Cadherin EGF LAG Seven-Pass G-Type Receptor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 1952 ncbi.nlm.nih.gov/gene/1952 |
| Ensembl ID | ENSG00000143126 |
| UniProt ID | Q9HCU4 |
| OMIM ID | 604265 |
| HGNC ID | 3231 |
| Aliases | CDHF10, EGFL2, MEGF3, ADGRC2 |
Description
CELSR2 encodes a member of the flamingo subfamily of cadherins, which are atypical cadherins that function as G protein-coupled receptors. The protein plays a critical role in planar cell polarity (PCP) signaling, particularly during neural tube closure and neuronal migration. It is involved in cell-cell adhesion and intracellular signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects | Disrupted PCP signaling due to CELSR2 variants impairs convergent extension during neurulation | PMID: 22581969 |
| Hirschsprung disease | CELSR2 variants may affect enteric neural crest cell migration | PMID: 25644603 |
| Breast cancer | Altered CELSR2 expression influences cell polarity and tumor invasion | PMID: 23555202 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.1 | Low |
| Testis | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK 293 | 3.8 | Embryonic kidney cells |
| MCF7 | 2.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2015C>T (p.Pro672Leu) | Missense | 0.01% | Potential loss of function in PCP signaling |
| c.3457G>A (p.Gly1153Arg) | Missense | 0.005% | Associated with neural tube defects |
Mutation functional classification
Loss of Function (LOF)
Missense variants impairing cadherin repeat stability or receptor trafficking reduce PCP signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some missense variants may interfere with wild-type CELSR2 function in PCP complexes.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • calcium ion binding |
| • cell-cell adhesion | • planar cell polarity pathway |
| • neural tube closure |
Pathways
• Planar cell polarity (PCP) pathway
• Wnt signaling pathway
Protein Summary
CELSR2 is a 2,922-amino-acid transmembrane protein with nine cadherin repeats, seven EGF-like domains, two laminin G domains, and a G protein-coupled receptor domain. It localizes to the plasma membrane and mediates cell-cell adhesion and PCP signaling through interactions with other core PCP proteins such as VANGL2 and FZD3.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CELSR2 Knockout HEK293 Cell Line | EDJ-KQ4505 | Human | 1952 | Details Get a Quote |
| CELSR2 Knockout A-549 Cell Line | EDJ-KQ27105 | Human | 1952 | Details Get a Quote |
| CELSR2 Knockout HeLa Cell Line | EDJ-KQ27107 | Human | 1952 | Details Get a Quote |
| CELSR2 Knockout HCT 116 Cell Line | EDJ-KQ25845 | Human | 1952 | Details Get a Quote |
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