UBQLN2 (ubiquilin 2)

2015-03-01  

Identity

HGNC
LOCATION
Xp11.21
LOCUSID
ALIAS
ALS15,CHAP1,DSK2,HRIHFB2157,N4BP4,PLIC2
FUSION GENES

Other Information

Locus ID:

NCBI: 29978
MIM: 300264
HGNC: 12509
Ensembl: ENSG00000188021

Variants:

dbSNP: 29978
ClinVar: 29978
TCGA: ENSG00000188021
COSMIC: UBQLN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188021ENST00000338222Q9UHD9

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
218576832011Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.355
191482252009PLIC proteins or ubiquilins regulate autophagy-dependent cell survival during nutrient starvation.135
118275212002Structural studies of the interaction between ubiquitin family proteins and proteasome subunit S5a.93
224268542012Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion.76
273451492016Ubiquilins Chaperone and Triage Mitochondrial Membrane Proteins for Degradation.57
227172352012UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.46
129725702003The ubiquitin-associated domain of hPLIC-2 interacts with the proteasome.37
295266942018Ubiquitin Modulates Liquid-Liquid Phase Separation of UBQLN2 via Disruption of Multivalent Interactions.36
159750902005Ubiquilin regulates presenilin endoproteolysis and modulates gamma-secretase components, Pen-2 and nicastrin.25
228923092012Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.25

Citation

Dessen P

UBQLN2 (ubiquilin 2)

Atlas Genet Cytogenet Oncol Haematol. 2015-03-01

Online version: http://atlasgeneticsoncology.org/gene/55631/ubqln2