NUDCD2
Homo sapiens
Gene Name: NudC domain containing 2
Aliases: NudCL2
Chromosome No: 5
Chromosome Band: 5q34
Genetic Category: Rare single gene variant
Aliases: NudCL2
Chromosome No: 5
Chromosome Band: 5q34
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 6
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo missense variant in the NUDCD2 gene was identified in two ASD probands from Yuen et al., 2017. CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the NUDCD2 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 3 CNVs from SCZ cases (6 total) vs. 1 CNV in controls (Odds ratio 2.75, P = 3.2E-02)].
Molecular Function
May regulate the LIS1/dynein pathway by stabilizing LIS1 with Hsp90 chaperone.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
ASD, SCZ
