SETDB2
Homo sapiens
Gene Name: SET domain, bifurcated 2
Aliases: C13orf4, CLLD8, CLLL8, KMT1F
Chromosome No: 13
Chromosome Band: 13q14.2
Genetic Category: Syndromic-Rare single gene variant
Aliases: C13orf4, CLLD8, CLLL8, KMT1F
Chromosome No: 13
Chromosome Band: 13q14.2
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 15
Evidence score: 3
ASD Reports: 4
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 15
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
A total of nine ASD-specific variants, three of which were non-synonymous, in the SETDB2 gene were identified in cases but not controls (Cukier et al., 2012).
Molecular Function
Histone methyltransferase involved in left-right axis specification in early development and mitosis. Plays a role in chromosome condensation and segregation during mitosis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
ASD
Support
De Novo Variants Predominate in Autism Spectrum Disorder
ASD
OCD, DD, ID
Support
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
ID
Epilepsy, ASD
