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Relevance to Autism

This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module. Sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism; this finding was further validated by exome sequencing of an independent cohort of 505 ASD cases and 491 controls (Li et al., 2014).

Molecular Function

Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Isoform 1 may act as a scaffolding protein that anchors ion channels in the membrane, whereas isoform 3 is involved in cell cycle progression in T-cells.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN685R001 
 missense_variant 
 c.1300C>T 
 p.Pro434Ser 
 Unknown 
  
 Unknown 
 GEN685R002 
 missense_variant 
 c.1871C>T 
 p.Ser624Phe 
 Unknown 
  
 Unknown 
 GEN685R003 
 missense_variant 
 c.1114A>T 
 p.Ser372Cys 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 1
 
15
Duplication
 1
 
15
Duplication
 1
 
15
Deletion-Duplication
 7
 

No Animal Model Data Available

No PIN Data Available
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