UBQLN2 Chromosome X
Ubiquilin 2
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What This Gene Does
This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Ubiquilin family
Locus Type
gene with protein product
Location
Xp11.21
Ensembl
ENSG00000188021
Associated Conditions (3)
Amyotrophic lateral sclerosis type 15
UBQLN2-related disorder
Amyotrophic lateral sclerosis
Key Variants
RS1164344738
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
Health Risk
RS1360902821
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
Health Risk
RS143098023
Conflicting classifications of pathogenicity
UBQLN2-related disorder, Amyotrophic lateral sclerosis type 15, UBQLN2-related disorder
Health Risk
RS143736302
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
Health Risk
RS1470922571
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
Health Risk
RS201549050
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 15, UBQLN2-related disorder, Amyotrophic lateral sclerosis type 15
Health Risk
RS369947678
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis, UBQLN2-related disorder
Health Risk
RS387906711
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
Health Risk
RS45559331
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
Health Risk
RS746075271
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
Health Risk
RS761503297
Conflicting classifications of pathogenicity
Health Risk
RS763761196
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1164344738 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15 |
| RS1360902821 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15 |
| RS143098023 | Health Risk | Conflicting classifications of pathogenicity | UBQLN2-related disorder, Amyotrophic lateral sclerosis type 15, UBQLN2-related disorder |
| RS143736302 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15 |
| RS1470922571 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15 |
| RS201549050 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 15, UBQLN2-related disorder, Amyotrophic lateral sclerosis type 15 |
| RS369947678 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis, UBQLN2-related disorder |
| RS387906711 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15 |
| RS45559331 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15 |
| RS746075271 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15 |
| RS761503297 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763761196 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15 |
| RS772368310 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15 |
| RS778382794 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15 |
| RS1384003425 | Health Risk | Likely pathogenic | — |
| RS2519963370 | Health Risk | Likely pathogenic | UBQLN2-related disorder, UBQLN2-related disorder |
| RS387906709 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15 |
| RS387906710 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15 |