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: 3
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 15
Evidence score: 3
ASD Reports: 3
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 15
Evidence score: 3
| Associated Disorders: |
|
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
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
ID
Epilepsy, ASD
