ARIH2 Chromosome 3
Ariadne RBR E3 ubiquitin protein ligase 2
Upload your DNA to see your personal genotypes for variants in ARIH2.
What This Gene Does
The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
"Ring finger proteins|RBR E3 ubiquitin ligases"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000177479
Associated Conditions (1)
Autism spectrum disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2471500241 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |