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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23304

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	References	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	References	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

ClpS

0
300
600
900
1200
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	References
Cross	UBR2	Q8IWV8	vif	Human immunodeficiency virus	P12504	Pull Down	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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15387	UBR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	UBR2	NCBI