UBR2 (ubiquitin protein ligase E3 component n-recognin 2)

2014-08-01  

Identity

HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
C6orf133,bA49A4.1,dJ242G1.1,dJ392M17.3
FUSION GENES

Other Information

Locus ID:

NCBI: 23304
MIM: 609134
HGNC: 21289
Ensembl: ENSG00000024048

Variants:

dbSNP: 23304
ClinVar: 23304
TCGA: ENSG00000024048
COSMIC: UBR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000024048ENST00000372899Q8IWV8
ENSG00000024048ENST00000372901Q8IWV8
ENSG00000024048ENST00000372903Q8IWV8

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
382252652024The phosphatase DUSP22 inhibits UBR2-mediated K63-ubiquitination and activation of Lck downstream of TCR signalling.1
382252652024The phosphatase DUSP22 inhibits UBR2-mediated K63-ubiquitination and activation of Lck downstream of TCR signalling.1
349221252022Burden of rare coding variants in an Italian cohort of familial multiple sclerosis.3
349221252022Burden of rare coding variants in an Italian cohort of familial multiple sclerosis.3
332887412020The E3 ligase UBR2 regulates cell death under caspase deficiency via Erk/MAPK pathway.6
332887412020The E3 ligase UBR2 regulates cell death under caspase deficiency via Erk/MAPK pathway.6
269401452016Association of single nucleotide polymorphisms in UBR2 gene with idiopathic aspermia or oligospermia in Sichuan, China.2
269401452016Association of single nucleotide polymorphisms in UBR2 gene with idiopathic aspermia or oligospermia in Sichuan, China.2
215736782011Single nucleotide polymorphism in the UBR2 gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest.4
215736782011Single nucleotide polymorphism in the UBR2 gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest.4
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
145859832003Female lethality and apoptosis of spermatocytes in mice lacking the UBR2 ubiquitin ligase of the N-end rule pathway.75
145859832003Female lethality and apoptosis of spermatocytes in mice lacking the UBR2 ubiquitin ligase of the N-end rule pathway.75

Citation

Dessen P

UBR2 (ubiquitin protein ligase E3 component n-recognin 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54747/ubr2-(ubiquitin-protein-ligase-e3-component-n-recognin-2)