CDH10 (Cadherin 10) Gene: Structure, Function, and Disease Associations

Comprehensive biomedical overview of the CDH10 gene, including genomic context, expression, mutations, and clinical relevance.

Gene Information Card

Symbol CDH10
Full Name cadherin 10
Gene Type protein-coding
Chromosomal Location 5p14.2-p14.1
NCBI Gene ID 1008 ncbi.nlm.nih.gov/gene/1008
Ensembl ID ENSG00000145632
UniProt ID Q9Y6N8
OMIM ID 604555
HGNC ID 1750
Aliases cadherin-10, T2-cadherin

Description

CDH10 (cadherin 10) is a protein-coding gene located on chromosome 5p14.2-p14.1. It encodes a type II classical cadherin, a calcium-dependent cell adhesion glycoprotein. Cadherins mediate homophilic cell-cell adhesion and are critical for tissue morphogenesis, maintenance of epithelial integrity, and neural development. CDH10 is predominantly expressed in the brain and is implicated in neurodevelopmental disorders and certain cancers.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Autism spectrum disorder Genetic association studies have linked CDH10 variants to ASD risk, possibly through altered neuronal adhesion and synaptic function. PMID: 19118814; NCBI GeneRIF
Schizophrenia CDH10 polymorphisms have been associated with schizophrenia in genome-wide association studies, suggesting a role in neurodevelopment. PMID: 21926972; NCBI GeneRIF
Colorectal cancer CDH10 promoter hypermethylation and reduced expression are observed in colorectal cancer, potentially contributing to tumor progression. PMID: 23149706; COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 28.5 High
Testis 6.2 Low
Lung 2.1 Not detected
Liver 0.8 Not detected
Kidney 1.5 Not detected
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) 35.2 High expression; neuronal origin
U-87 MG (glioblastoma) 22.8 Moderate expression
HeLa (cervical carcinoma) 0.5 Very low expression
A549 (lung carcinoma) 1.2 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1253G>A (p.Arg418Gln) Missense 0.01% (gnomAD) Substitution in extracellular cadherin domain; potential impact on adhesion
c.1876C>T (p.Arg626Trp) Missense 0.005% (gnomAD) Located in cytoplasmic domain; functional significance unknown
c.234delC (p.Pro79fs) Frameshift Rare Predicted loss-of-function; may reduce protein expression
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense variants (e.g., c.234delC) are predicted to cause loss of function through nonsense-mediated decay or truncated protein.

Gain of Function (GOF)

No gain-of-function mutations have been reported for CDH10 in the literature or curated databases.

Dominant Negative (DN)

No dominant-negative mutations have been characterized for CDH10.

Pathways

Cell adhesion molecules (CAMs) – KEGG hsa04514
Adherens junction – KEGG hsa04520

Protein Summary

Cadherin 10 is a 788-amino acid type II classical cadherin. It contains an N-terminal signal peptide, five extracellular cadherin repeats, a transmembrane domain, and a cytoplasmic tail. The extracellular domain mediates calcium-dependent homophilic adhesion, while the cytoplasmic domain interacts with catenins to link to the actin cytoskeleton. The protein is heavily glycosylated and plays roles in neural circuit formation and tissue integrity.

Related Products

Product name Cat.No. Species Gene ID
CDH10 Knockout HEK293 Cell Line EDJ-KQ4239 Human 1008 Details Get a Quote
PCDH10 Knockout HEK293 Cell Line EDJ-KQ14699 Human 57575 Details Get a Quote
CDH10 Knockout HeLa Cell Line EDJ-KQ52858 Human 1008 Details Get a Quote
PCDH10 Knockout HeLa Cell Line EDJ-KQ56871 Human 57575 Details Get a Quote
CDH10 Knockout A-549 Cell Line EDJ-KQ61323 Human 1008 Details Get a Quote
PCDH10 Knockout A-549 Cell Line EDJ-KQ65385 Human 57575 Details Get a Quote
CDH10 Knockout HCT 116 Cell Line EDJ-KQ69821 Human 1008 Details Get a Quote
PCDH10 Knockout HCT 116 Cell Line EDJ-KQ73822 Human 57575 Details Get a Quote
Displaying Records 1 To 8 Of 8 Records
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