DMXL2
Homo sapiens
Gene Name: Dmx-like 2
Aliases: PEPNS, RC3
Chromosome No: 15
Chromosome Band: 15q21.2
Genetic Category: Rare single gene variant
Aliases: PEPNS, RC3
Chromosome No: 15
Chromosome Band: 15q21.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 5
Evidence score: 3
ASD Reports: 10
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants in the DMXL2 gene were identified in simplex ASD probands, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=0.07) (Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
This gene encodes a protein with 12 WD domains; proteins with WD domains are involved in many functions including participation in signal transduction pathways. May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles and plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
ASD or autistic features
ADHD, behavioral problems
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
TS
Support
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
ASD
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Support
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications
Epilepsy/seizures
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
