KDM3B
Homo sapiens
Gene Name: lysine demethylase 3B
Aliases: 5qNCA, C5orf7, JMJD1B, NET22
Chromosome No: 5
Chromosome Band: 5q31.2
Genetic Category: Syndromic-Rare single gene variant
Aliases: 5qNCA, C5orf7, JMJD1B, NET22
Chromosome No: 5
Chromosome Band: 5q31.2
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 22
Associated CNVs: 6
Evidence score: 3
ASD Reports: 5
Recent Reports: 0
Annotated variants: 22
Associated CNVs: 6
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Diets et al., 2019 reported de novo and inherited pathogenic variants in the KDM3B gene in 14 unrelated individuals and three affected parents with varying degrees of intellectual disability (ID) or developmental delay (DD) and short stature; behavioral problems were noted in eight individuals, with three individuals diagnosed with autism spectrum disorder and four individuals diagnosed with ADHD.
Molecular Function
Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May have tumor suppressor activity.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
DD, ID
ASD, ADHD
Support
A loss-of-function variant in SUV39H2 identified in autism-spectrum disorder causes altered H3K9 trimethylation and dysregulation of protocadherin β-cluster genes in the developing brain
ASD
