RNF8
Homo sapiens
Gene Name: ring finger protein 8
Aliases: hRNF8
Chromosome No: 6
Chromosome Band: 6p21.2
Genetic Category: Rare Single Gene variant-
Aliases: hRNF8
Chromosome No: 6
Chromosome Band: 6p21.2
Genetic Category: Rare Single Gene variant-
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 0
Evidence score: null
ASD Reports: 2
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 0
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
A homozygous deletion nearest to the noncoding 5' region of the RNF8 gene was identified in an ASD patient; both parents (first-cousins) and an unaffected sibling were hemizygous for the deletion (Morrow et al., 2008).
Molecular Function
The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Identifying autism loci and genes by tracing recent shared ancestry.
ASD
Support
RNF8/UBC13 ubiquitin signaling suppresses synapse formation in the mammalian brain.
