1. Gene
  2. UBR2 - ubiquitin protein ligase E3 component n-recognin 2 Gene

UBR2 - ubiquitin protein ligase E3 component n-recognin 2 Gene

Homo sapiens

Also known as C6orf133; bA49A4.1; dJ242G1.1; dJ392M17.3

Gene ID: 23304 | Gene type: protein coding

About UBR2

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:42,564,029-42,693,505 (from NCBI)

This gene has 3 transcripts (splice variants), 219 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 7.8), spleen (RPKM 6.8) and 25 other tissues.

Summary

This gene encodes an E3 ubiquitin Ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

UBR2 Products(3)

mRNA Protein Name
NM_001184801.2 NP_001171730.1 E3 ubiquitin-protein ligase UBR2 isoform 2
NM_001363705.2 NP_001350634.1 E3 ubiquitin-protein ligase UBR2 isoform 3
NM_015255.3 NP_056070.1 E3 ubiquitin-protein ligase UBR2 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables L-leucine binding IDA
IDA: Inferred from direct assay
20298436 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22190034 GOA
enables ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
15548684 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cellular response to L-leucine IDA
IDA: Inferred from direct assay
20298436 GOA
involved in negative regulation of TOR signaling IMP
IMP: Inferred from mutant phenotype
20298436 GOA
involved in positive regulation of T cell receptor signaling pathway IDA
IDA: Inferred from direct assay
38225265 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
15548684 GOA
involved in protein K63-linked ubiquitination IDA
IDA: Inferred from direct assay
38225265 GOA
involved in ubiquitin-dependent protein catabolic process via the N-end rule pathway IDA
IDA: Inferred from direct assay
20835242 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UBR2 Protein Structure

zf-UBR

zf-UBR: Putative zinc finger in N-recognin (UBR box) (98 - 167)

ClpS

ClpS: ATP-dependent Clp protease adaptor protein ClpS (222 - 302)

  • 0
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  • 1500
  • 1755 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase UBR2

RING-type E3 ubiquitin transferase UBR2

UBR2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Cross
UBR2 Q8IWV8 vif Human immunodeficiency virus P12504 22190034
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Johanson-Blizzard Syndrome

JBS

Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, And Congenital Deafness

Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia And Congenital Deafness

Johanson Blizzard Syndrome

Oligospermia
Retinitis Pigmentosa 61

RP61

Retinitis Pigmentosa, Type 61

Night Blindness, Congenital Stationary, Type 1d

Congenital Stationary Night Blindness 1d

CSNB1D

Csnb, Complete, Autosomal Recessive

Night Blindness, Congenital Stationary , 1d, Autosomal Recessive

Congenital Stationary Night Blindness 1d Autosomal Recessive

Night Blindness, Congenital Stationary, 1d

Complete Autosomal Recessive Csnb

Blindness, Night, Stationary, Congenital, Type 1d

Autoimmune Pancreatitis

Lymphoplasmocytic Sclerosing Pancreatitis

Aip

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta UBR2 VGNC VGNC:79318
Rattus norvegicus UBR2 RGD RGD:1593237
Canis familiaris UBR2 VGNC VGNC:48090
Felis catus UBR2 VGNC VGNC:66785
Bos taurus UBR2 VGNC VGNC:36617
Mus musculus UBR2 MGD MGI:1861099