PLXNA4
Homo sapiens
Gene Name: Plexin A4
Aliases: tcag7.1291, FAYV2820, PLEXA4, PLXNA4A, PLXNA4B, PRO34003
Chromosome No: 7
Chromosome Band: 7q32.3
Genetic Category: Functional-Rare single gene variant-
Aliases: tcag7.1291, FAYV2820, PLEXA4, PLXNA4A, PLXNA4B, PRO34003
Chromosome No: 7
Chromosome Band: 7q32.3
Genetic Category: Functional-Rare single gene variant-
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 8
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Two novel overlapping CNVs involving the PLXNA4 gene were identified in unrelated ASD cases (Prasad et al., 2012).
Molecular Function
Coreceptor for SEMA3A. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Genome-wide detection of tandem DNA repeats that are expanded in autism
ASD
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Support
Decreased expression of axon-guidance receptors in the anterior cingulate cortex in autism.
ASD
Recent Recommendation
PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure.
