CDH8
Homo sapiens
Gene Name: cadherin 8, type 2
Aliases: Cadherin-8
Chromosome No: 16
Chromosome Band: 16q21
Genetic Category: Rare Single Gene variant
Aliases: Cadherin-8
Chromosome No: 16
Chromosome Band: 16q21
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 12
Recent Reports: 3
Annotated variants: 11
Associated CNVs: 3
Evidence score: 2
ASD Reports: 12
Recent Reports: 3
Annotated variants: 11
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the CDH8 gene have been identified with autism (Pagnamenta et al., 2011).
Molecular Function
An integral membrane proteins that mediates calcium-dependent cell-cell adhesion
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
ASD
Support
Frequency and Complexity of De Novo Structural Mutation in Autism.
ASD
Support
Identification of candidate intergenic risk loci in autism spectrum disorder.
ASD
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
ASD
Speech delay, developmental regression
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Highly Cited
Cloning of five human cadherins clarifies characteristic features of cadherin extracellular domain and provides further evidence for two structural...
Highly Cited
Expression of Dbx1, Neurogenin 2, Semaphorin 5A, Cadherin 8, and Emx1 distinguish ventral and lateral pallial histogenetic divisions in the develop...
Recent Recommendation
Cadherin-8 expression, synaptic localization, and molecular control of neuronal form in prefrontal corticostriatal circuits.
Recent Recommendation
Cadherin expression in the somatosensory cortex: evidence for a combinatorial molecular code at the single-cell level.
Recent Recommendation
Absence of layer-specific cadherin expression profiles in the neocortex of the reeler mutant mouse.
