Slit3
Homo sapiens
Gene Name: slit guidance ligand 3
Aliases: UNQ691/PRO1336, MEGF5, SLIL2, SLIT1, Slit-3, slit2
Chromosome No: 5
Chromosome Band: 5q34-q35.1
Genetic Category: Multigenic CNV-Rare single gene variant
Aliases: UNQ691/PRO1336, MEGF5, SLIL2, SLIT1, Slit-3, slit2
Chromosome No: 5
Chromosome Band: 5q34-q35.1
Genetic Category: Multigenic CNV-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 0
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 0
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Potentially damaging heterozygous missense variants in the SLIT3 gene were identified in affected members of two extended multiplex ASD families (Cukier et al., 2014).
Molecular Function
May act as molecular guidance cue in cellular migration, and function may be mediated by interaction with roundabout homolog receptors. Duplications harboring the SLIT3 gene have been proposed to be a risk factor in major depressive disorder (Glessner et al., 2010).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Support
Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder.
MDD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN597R001
missense_variant
c.1886G>A
p.Ser629Asn
Familial
Extended multiplex (at least one pair of ASD affec
GEN597R002
missense_variant
c.1886G>A
p.Ser629Asn
Familial
Extended multiplex (at least one pair of ASD affec
Common
No Common Variants Available
