UBR3ubiquitin protein ligase E3 component n-recognin 3
Autism Reports / Total Reports
4 / 6Rare Variants / Common Variants
6 / 0Aliases
-Associated Syndromes
-Chromosome Band
2q31.1Associated Disorders
-Relevance to Autism
A de novo missense variant in the UBR3 gene was observed in both members of a monozyotic twin pair concordant for ASD from the south Indian state of Kerala and belonging to the Dravidian population in Anitha et al., 2024. Additional de novo variants in this gene, including a de novo frameshift variant, have been identified in ASD probands from the Simons Simplex Collection (Dong et al., 2014; Iossifov et al., 2014), while a de novo missense variant in this gene was more recently identified in a Chinese ASD proband (Wang et al., 2023). Wang et al., 2021 identified UBR3 as a novel candidate gene for neurodevelopmental disorders (NDDs) following an integrated analysis of 3,195 Chinese NDD probands and de novo mutations from 16,807 NDD probands from public datasets with a false discovery rate < 0.01. UBR3 was subsequently identified as a NDD risk gene with a 5% false discovery rate in Hamanaka et al., 2022 based in part of the contribution of de novo CNV data; in the case of UBR3, the de novo CNV in question was a deletion identified in an ASD proband from the Simons Simplex Collection.
Molecular Function
Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in several processes, including cellular protein metabolic process; sensory perception of smell; and suckling behavior. Predicted to act upstream of or within in utero embryonic development and olfactory behavior. Predicted to be integral component of membrane. Predicted to be part of ubiquitin ligase complex. Predicted to be active in cytoplasm.
External Links
SFARI Genomic Platforms
Reports related to UBR3 (6 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder | Dong S , et al. (2014) | Yes | - |
| 2 | Support | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
| 3 | Support | - | Wang T et al. (2021) | No | - |
| 4 | Support | - | Hamanaka K et al. (2022) | No | ASD |
| 5 | Support | - | Wang J et al. (2023) | Yes | - |
| 6 | Primary | - | Ayyappan Anitha et al. (2024) | Yes | - |
Rare Variants (6)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | copy_number_loss | De novo | - | Simplex | 35468861 | Hamanaka K et al. (2022) | |
| c.230C>G | p.Ala77Gly | missense_variant | De novo | - | Simplex | 37393044 | Wang J et al. (2023) | |
| c.4482C>T | p.His1494= | synonymous_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
| c.5029_5031del | p.Glu1677del | inframe_deletion | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
| c.813_815delinsC | p.Asn272ProfsTer22 | frameshift_variant | De novo | - | Simplex | 25284784 | Dong S , et al. (2014) | |
| c.4528C>A | p.Leu1510Ile | missense_variant | De novo | - | Multiplex (monozygotic twins) | 39038432 | Ayyappan Anitha et al. (2024) |
Common Variants
No common variants reported.