CADM2
Homo sapiens
Gene Name: Cell adhesion molecule 2
Aliases: IGSF4D, NECL3, Necl-3, SynCAM 2, synCAM2
Chromosome No: 3
Chromosome Band: 3p12.1
Genetic Category: Genetic association-Rare single gene variant
Aliases: IGSF4D, NECL3, Necl-3, SynCAM 2, synCAM2
Chromosome No: 3
Chromosome Band: 3p12.1
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
CADM2 was identified in an ASD candidate gene via homozygous haplotype mapping analysis performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs) (Casey et al., 2012).
Molecular Function
Adhesion molecule that engages in homo- and heterophilic interactions with the other nectin-like family members, leading to cell aggregation. Important for synapse organization, providing regulated trans-synaptic adhesion.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
ASD
Positive Association
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eos...
ASD
Support
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Expression and adhesion profiles of SynCAM molecules indicate distinct neuronal functions.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN670C001
intron_variant
rs78122814
c.61+191215G>A;c.61+191216G>A
Minor allele, A
601 ASD cases, 1840 controls
Discovery
