HELP     Sign In
Search

Relevance to Autism

Rare inherited loss-of-function variants in the LILRB2 gene were identified in ASD probands from the Simons Simplex Collection (Krumm et al., 2015) and in Chinese ASD probands (Guo et al., 2017). Transmission and De Novo Association (TADA) analysis of a cohort of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified the LILRB2 gene as an ASD candidate gene with a PTADA between 0.001 and 0.005 (0.009208); however, PTADA for this gene failed to reach significance (P < 0.01) following TADA analysis using a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium.

Molecular Function

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare, inherited truncating mutations in autism.
ASD
Recent Recommendation
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN968R001 
 frameshift_variant 
 c.1337del 
 p.Thr446MetfsTer16 
 Familial 
 Paternal 
 Simplex 
 GEN968R002 
 frameshift_variant 
 c.368_369del 
 p.Lys123ThrfsTer22 
 Familial 
 Maternal 
 Simplex 
 GEN968R003 
 frameshift_variant 
 c.363_364insAG 
 p.Pro122SerfsTer14 
 Familial 
 Maternal 
 Simplex 
 GEN968R004 
 missense_variant 
 c.931G>A 
 p.Asp311Asn 
 Familial 
 Maternal 
 Simplex 
 GEN968R005 
 frameshift_variant 
 c.1403dup 
 p.Val469ArgfsTer31 
 Familial 
  
  
 GEN968R006 
 frameshift_variant 
 c.1396del 
 p.Val466TrpfsTer70 
 Familial 
  
  
 GEN968R007 
 stop_gained 
 c.1393C>T 
 p.Gln465Ter 
 Familial 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Duplication
 1
 
19
Duplication
 1
 
19
Deletion-Duplication
 29
 
19
Duplication
 5
 

No Animal Model Data Available

No PIN Data Available
HELP
Copyright © 2017 MindSpec, Inc.