CDH22 (Cadherin 22)

A cadherin family member involved in cell adhesion and potential roles in cancer and neurodevelopment.

Gene Information Card

Symbol CDH22
Full Name Cadherin 22
Gene Type Protein-coding
Chromosomal Location 20q13.12
NCBI Gene ID 64405 ncbi.nlm.nih.gov/gene/64405
Ensembl ID ENSG00000101210
UniProt ID Q9Y6N8
OMIM ID 609151
HGNC ID 1810
Aliases CDH22, cadherin-22, FLJ20321

Description

CDH22 encodes cadherin 22, a classical cadherin that mediates calcium-dependent cell-cell adhesion. It is expressed in various tissues and is implicated in neural development and cancer progression. The protein contains cadherin repeats and a cytoplasmic domain that interacts with catenins.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Gastric cancer Altered CDH22 expression may affect cell adhesion and promote invasion. NCBI Gene, COSMIC
Colorectal cancer Downregulation of CDH22 is associated with metastasis. NCBI Gene, COSMIC
Schizophrenia Genetic variants in CDH22 may contribute to neurodevelopmental susceptibility. OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 2.3 Low
Lung 1.8 Low
Stomach 4.5 Medium
Colon 3.2 Medium
Kidney 1.1 Low
Cell Line Expression
Cell Line nTPM Notes
MCF7 (breast cancer) 2.0 Low expression
A549 (lung cancer) 1.5 Low expression
HCT116 (colorectal cancer) 3.8 Medium expression
K562 (leukemia) 0.9 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412Cys) Missense <0.1% Unknown functional impact
c.567delA (p.Glu190fs) Frameshift <0.01% Predicted loss of function
c.890G>A (p.Arg297His) Missense 0.05% Reported in COSMIC for colorectal cancer
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations (e.g., c.567delA) are predicted to truncate the protein, impairing cell adhesion.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

Missense mutations in the extracellular domain may disrupt cadherin interactions, potentially acting in a dominant-negative manner.

Gene Ontology (GO)

• cell adhesion • calcium ion binding
• homophilic cell adhesion via plasma membrane adhesion molecules • plasma membrane
• cadherin binding

Pathways

Cell adhesion molecules (CAMs)
Wnt signaling pathway
Cadherin signaling pathway

Protein Summary

Cadherin 22 is a 794-amino acid transmembrane glycoprotein with five extracellular cadherin repeats, a single transmembrane domain, and a cytoplasmic tail that binds catenins. It mediates homophilic cell adhesion and is involved in tissue morphogenesis and maintenance. Expression is altered in several cancers, suggesting a role in tumor suppression or progression.

Related Products

Product name Cat.No. Species Gene ID
CDH22 Knockout HEK293 Cell Line EDJ-KQ12838 Human 64405 Details Get a Quote
CDH22 Knockout HeLa Cell Line EDJ-KQ57053 Human 64405 Details Get a Quote
CDH22 Knockout A-549 Cell Line EDJ-KQ65566 Human 64405 Details Get a Quote
CDH22 Knockout HCT 116 Cell Line EDJ-KQ73995 Human 64405 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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