Incidentalome

Gene: UBQLN2

Green List (high evidence)

UBQLN2 (ubiquilin 2)
EnsemblGeneIds (GRCh38): ENSG00000188021
EnsemblGeneIds (GRCh37): ENSG00000188021
OMIM: 300264, Gene2Phenotype
UBQLN2 is in 4 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Established gene identified in many individuals with ALS and/or dementia however there is conflicting evidence on the mode of pathogenicity.

PMID: 21857683 – 3 unrelated individuals with missense mutations (P497S, P509S, P525S) causative of UBQLN2- related ALS and ALS/Dementia.

PMID: 31319884 Reports on multiple articles conducting functional studies with evidence supporting that mutations in UBQLN2 impair the UPS pathway.

PMID: 26152284 – In vivo mouse model that showed that UBQLN2 mutants cause neurodegeneration and aggregate formation however the gene-disease association link wasn’t identified.

PMID: 25388785 – transgenic knockout rat model showed that mutant UBQLN2 cells lead to aggregation formation. Cresyl violet staining in the rats showed a reduction in neuron density which led to neurodegeneration. Neural impairment in the rats were confirmed by Golgi staining and was shown to have a distorted structure of cortex.
Created: 5 Apr 2023, 5:36 a.m. | Last Modified: 18 May 2023, 5:03 a.m.
Panel Version: 0.230

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MONDO: 0010459; MIM#300857)

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
300264
Clinvar variants
Variants in UBQLN2
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBQLN2 was added gene: UBQLN2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UBQLN2 was set to Unknown