Aliases: CRC18, CRCR1, HGPPS2, IGDCC1, MRMV1, NTN1R1
Chromosome No: 18
Chromosome Band: 18q21.2
Genetic Category: Genetic association-Rare single gene variant
ASD Reports: 6
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 7
Evidence score: 2
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Relevance to Autism
A cross-trait meta-analysis of genome-wide association studies on schizophrenia (65,967 cases), bipolar disorder (41,653 cases), autism spectrum disorder (46,350 cases), ADHD (55,374 cases) and depression (688,809 cases) identified an intronic SNP in the DCC gene that reached genome-wide significance for ASD following MTAG analysis (P-value 2.69E-08) (Wu et al., 2020). Other SNPs in this gene have previously been shown to reach genome-wide significance for association with depression (Wray et al., 2018; Howard et al., 2019).
Molecular Function
This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction.
External Links
