KLF16
Homo sapiens
Gene Name: Kruppel like factor 16
Aliases: BTEB4, DRRF, NSLP2
Chromosome No: 19
Chromosome Band: 19p13.3
Genetic Category: Rare single gene variant
Aliases: BTEB4, DRRF, NSLP2
Chromosome No: 19
Chromosome Band: 19p13.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 2
Evidence score: 2
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two non-synonymous postzygotic mosaic mutations (PZMs) in the KLF16 gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected genome-wide based on background rates (2/571 observed vs. 0/84,448 expected; hypergeometric P-value < 1.0E-06).
Molecular Function
This gene encodes a transcription factor that binds GC and GT boxes and displaces Sp1 and Sp3 from these sequences. Modulates dopaminergic transmission in the brain
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
