RNF31 Chromosome 14
Ring finger protein 31
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What This Gene Does
The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein ligase component of the linear ubiquitin chain assembly complex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
"Ring finger proteins|Zinc fingers RANBP2-type|Linear ubiquitin chain assembly complex |RBR E3 ubiquitin ligases"
Locus Type
gene with protein product
Location
14q12
Ensembl
ENSG00000092098
Associated Conditions (3)
RNF31-related disorder
Short stature
Immunodeficiency 115 with autoinflammation
Key Variants
RS149481717
Conflicting classifications of pathogenicity
Health Risk
RS200013554
Conflicting classifications of pathogenicity
Health Risk
RS373561182
Conflicting classifications of pathogenicity
Health Risk
RS377298249
Conflicting classifications of pathogenicity
RNF31-related disorder, RNF31-related disorder
Health Risk
RS45466595
Conflicting classifications of pathogenicity
RNF31-related disorder, RNF31-related disorder
Health Risk
RS1566615893
Likely pathogenic
Short stature, Short stature
Health Risk
RS2501999133
Pathogenic
Immunodeficiency 115 with autoinflammation, Immunodeficiency 115 with autoinflammation
Health Risk
RS794729666
Pathogenic
Immunodeficiency 115 with autoinflammation, Immunodeficiency 115 with autoinflammation
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149481717 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200013554 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373561182 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377298249 | Health Risk | Conflicting classifications of pathogenicity | RNF31-related disorder, RNF31-related disorder |
| RS45466595 | Health Risk | Conflicting classifications of pathogenicity | RNF31-related disorder, RNF31-related disorder |
| RS1566615893 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS2501999133 | Health Risk | Pathogenic | Immunodeficiency 115 with autoinflammation, Immunodeficiency 115 with autoinflammation |
| RS794729666 | Health Risk | Pathogenic | Immunodeficiency 115 with autoinflammation, Immunodeficiency 115 with autoinflammation |