CYLC2
Homo sapiens
Gene Name: cylicin, basic protein of sperm head cytoskeleton 2
Aliases:
Chromosome No: 9
Chromosome Band: 9q31.1
Genetic Category: Rare single gene variant-
Aliases:
Chromosome No: 9
Chromosome Band: 9q31.1
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 5
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene was identified as a novel ASD candidate gene in Gonzalez-Mantilla et al., 2016 based on the presence of two potentially pathogenic loss-of-function variants in ASD cases (a maternally-inherited single gene deletion in an SSC proband in Levy et al., 2011, and a single gene deletion of unknown origin in Stobbe et al., 2013).
Molecular Function
Possible architectural role during spermatogenesis. May be involved in spermatid differentiation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
ASD
Support
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
ASD
Recent Recommendation
A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.