Human Gene Module / Chromosome 5 / NUDCD2

NUDCD2NudC domain containing 2

Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
2 / 0
Associated Syndromes
Genetic Category
Rare Single Gene Mutation
Chromosome Band
Associated Disorders
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.

Reports related to NUDCD2 (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK , et al. (2017) Yes -
2 Recent Recommendation Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. Kushima I , et al. (2018) Yes -
Rare Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_gain Unknown - - 30208311 Kushima I , et al. (2018)
c.218A>T p.Asp73Val missense_variant De novo - - 28263302 C Yuen RK , et al. (2017)
Common Variants  

No common variants reported.

CNVs associated with NUDCD2(1 CNVs)
5q34 7 Deletion-Duplication 14  /  50
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