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Aliases for UBR2 Gene

Aliases for UBR2 Gene

  • Ubiquitin Protein Ligase E3 Component N-Recognin 2 2 3 5
  • Ubiquitin-Protein Ligase E3-Alpha-II 3 4
  • Ubiquitin-Protein Ligase E3-Alpha-2 3 4
  • C6orf133 3 4
  • Chromosome 6 Open Reading Frame 133 2
  • N-Recognin-2 4
  • DJ392M17.3 3
  • EC 6.3.2.- 4
  • DJ242G1.1 3
  • BA49A4.1 3
  • KIAA0349 4

External Ids for UBR2 Gene

Previous HGNC Symbols for UBR2 Gene

  • C6orf133

Previous GeneCards Identifiers for UBR2 Gene

  • GC06P042641
  • GC06P042250

Summaries for UBR2 Gene

Entrez Gene Summary for UBR2 Gene

  • 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]

GeneCards Summary for UBR2 Gene

UBR2 (Ubiquitin Protein Ligase E3 Component N-Recognin 2) is a Protein Coding gene. Diseases associated with UBR2 include johanson-blizzard syndrome and rapadilino syndrome. Among its related pathways are Immune System and SMAD Signaling Network. GO annotations related to this gene include ligase activity and leucine binding. An important paralog of this gene is UBR3.

UniProtKB/Swiss-Prot for UBR2 Gene

  • E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Plays a critical role in chromatin inactivation and chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth.

Gene Wiki entry for UBR2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBR2 Gene

Genomics for UBR2 Gene

Regulatory Elements for UBR2 Gene

Promoters for UBR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UBR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for UBR2 Gene

Chromosome:
6
Start:
42,563,952 bp from pter
End:
42,693,505 bp from pter
Size:
129,554 bases
Orientation:
Plus strand

Genomic View for UBR2 Gene

Genes around UBR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBR2 Gene

Proteins for UBR2 Gene

  • Protein details for UBR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWV8-UBR2_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase UBR2
    Protein Accession:
    Q8IWV8
    Secondary Accessions:
    • O15057
    • Q4VXK2
    • Q5TFH6
    • Q6P2I2
    • Q6ZUD0

    Protein attributes for UBR2 Gene

    Size:
    1755 amino acids
    Molecular mass:
    200538 Da
    Quaternary structure:
    • Interacts with UBE2B; promotes the UBE2B-H2A interaction and the ubiquitination of histone H2A by UBE2B and UBR2 (By similarity). Interacts with RECQL4.

    Three dimensional structures from OCA and Proteopedia for UBR2 Gene

    Alternative splice isoforms for UBR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBR2 Gene

Proteomics data for UBR2 Gene at MOPED

Post-translational modifications for UBR2 Gene

  • Ubiquitination at Lys 255, Lys 994, Lys 1187, and Lys 1255
  • Modification sites at PhosphoSitePlus

Other Protein References for UBR2 Gene

No data available for DME Specific Peptides for UBR2 Gene

Domains & Families for UBR2 Gene

Suggested Antigen Peptide Sequences for UBR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IWV8

UniProtKB/Swiss-Prot:

UBR2_HUMAN :
  • The RING-H2 zinc finger is an atypical RING finger with a His ligand in place of the fourth Cys of the classical motif.
  • Belongs to the UBR1 family.
  • Contains 1 RING-type zinc finger.
Domain:
  • The RING-H2 zinc finger is an atypical RING finger with a His ligand in place of the fourth Cys of the classical motif.
  • The UBR-type zinc finger forms a pocket that mediates recognition of type 1 N-degrons. It exhibits preference for Arginine in first position, has poor affinity for histidine, and doesnt bind acetylated peptides.
Family:
  • Belongs to the UBR1 family.
Similarity:
  • Contains 1 RING-type zinc finger.
  • Contains 1 UBR-type zinc finger.
genes like me logo Genes that share domains with UBR2: view

Function for UBR2 Gene

Molecular function for UBR2 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Plays a critical role in chromatin inactivation and chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth.

Enzyme Numbers (IUBMB) for UBR2 Gene

Gene Ontology (GO) - Molecular Function for UBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with UBR2: view
genes like me logo Genes that share phenotypes with UBR2: view

Animal Models for UBR2 Gene

MGI Knock Outs for UBR2:

Animal Model Products

  • Taconic Biosciences Mouse Models for UBR2

miRNA for UBR2 Gene

miRTarBase miRNAs that target UBR2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBR2 Gene

Localization for UBR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBR2 Gene

Nucleus. Note=Associated with chromatin during meiosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBR2 Gene COMPARTMENTS Subcellular localization image for UBR2 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 1

Gene Ontology (GO) - Cellular Components for UBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with UBR2: view

Pathways & Interactions for UBR2 Gene

genes like me logo Genes that share pathways with UBR2: view

UniProtKB/Swiss-Prot Q8IWV8-UBR2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for UBR2 Gene

Activates:

Gene Ontology (GO) - Biological Process for UBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032007 negative regulation of TOR signaling IMP 20298436
GO:0033522 histone H2A ubiquitination ISS --
GO:0071233 cellular response to leucine IDA 20298436
genes like me logo Genes that share ontologies with UBR2: view

Drugs & Compounds for UBR2 Gene

(3) Drugs for UBR2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for UBR2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with UBR2: view

Transcripts for UBR2 Gene

Unigene Clusters for UBR2 Gene

Ubiquitin protein ligase E3 component n-recognin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UBR2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21 ^
SP1: - - - - -
SP2: - -
SP3: - - -
SP4:
SP5: - -
SP6:
SP7: - - -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35a · 35b ^ 36a · 36b ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^ 41a ·
SP1: - - - - - - -
SP2: - - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 41b ^ 42 ^ 43 ^ 44a · 44b ^ 45a · 45b ^ 46 ^ 47 ^ 48 ^ 49a · 49b ^ 50 ^ 51a · 51b · 51c
SP1: - - -
SP2: - - - -
SP3:
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for UBR2 Gene

GeneLoc Exon Structure for
UBR2
ECgene alternative splicing isoforms for
UBR2

Expression for UBR2 Gene

mRNA expression in normal human tissues for UBR2 Gene

Protein differential expression in normal tissues from HIPED for UBR2 Gene

This gene is overexpressed in Plasma (23.0) and Lymph node (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBR2 Gene



SOURCE GeneReport for Unigene cluster for UBR2 Gene Hs.529925

mRNA Expression by UniProt/SwissProt for UBR2 Gene

Q8IWV8-UBR2_HUMAN
Tissue specificity: Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level).
genes like me logo Genes that share expression patterns with UBR2: view

Protein tissue co-expression partners for UBR2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for UBR2 Gene

Orthologs for UBR2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UBR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBR2 35
  • 99.56 (n)
  • 99.33 (a)
UBR2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UBR2 36
  • 93 (a)
OneToOne
UBR2 35
  • 92.38 (n)
  • 93.39 (a)
dog
(Canis familiaris)
Mammalia UBR2 35
  • 93.54 (n)
  • 95.38 (a)
UBR2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubr2 36
  • 90 (a)
OneToOne
Ubr2 16
Ubr2 35
  • 84.37 (n)
  • 89.86 (a)
oppossum
(Monodelphis domestica)
Mammalia UBR2 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBR2 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ubr2 35
  • 84.24 (n)
  • 89.91 (a)
chicken
(Gallus gallus)
Aves UBR2 36
  • 88 (a)
OneToOne
UBR2 35
  • 82.78 (n)
  • 89.03 (a)
lizard
(Anolis carolinensis)
Reptilia UBR2 36
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24432 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ubr2 35
  • 74.52 (n)
  • 80.56 (a)
zebrafish
(Danio rerio)
Actinopterygii ubr2 36
  • 73 (a)
OneToOne
ubr2 35
  • 67.74 (n)
  • 73.3 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000171 35
  • 44.73 (n)
  • 39.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9086 36
  • 32 (a)
OneToMany
CG9086 35
  • 45.94 (n)
  • 36.77 (a)
worm
(Caenorhabditis elegans)
Secernentea ubr-1 35
  • 47.64 (n)
  • 35.68 (a)
ubr-1 36
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBR1 36
  • 16 (a)
ManyToMany
UBR2 36
  • 16 (a)
ManyToMany
UBR1 38
Species with no ortholog for UBR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UBR2 Gene

ENSEMBL:
Gene Tree for UBR2 (if available)
TreeFam:
Gene Tree for UBR2 (if available)

Paralogs for UBR2 Gene

Paralogs for UBR2 Gene

(1) SIMAP similar genes for UBR2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with UBR2: view

Variants for UBR2 Gene

Sequence variations from dbSNP and Humsavar for UBR2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs6917033 -, -, - 42,659,696(+) GCCCC(A/C/G/T)CACAA reference, missense
rs6905054 - 42,594,289(+) TCTGA(A/T)ATTGA reference, missense
rs423137 -- 42,692,917(-) GAAGG(C/T)CAGAA utr-variant-3-prime
rs399013 -- 42,683,565(+) ATTCT(A/G)TAGTA intron-variant
rs434505 -- 42,684,929(-) AAATT(A/C/G/T)TTTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBR2 Gene

Variant ID Type Subtype PubMed ID
dgv6838n71 CNV Loss 21882294
nsv526599 CNV Gain 19592680
nsv524011 CNV Loss 19592680
nsv885838 CNV Loss 21882294
esv2233433 CNV Deletion 18987734
esv2731988 CNV Deletion 23290073
esv2671214 CNV Deletion 23128226
esv2731989 CNV Deletion 23290073
esv2731990 CNV Deletion 23290073
nsv518847 CNV Loss 19592680
nsv350088 CNV Insertion 16902084
nsv5280 CNV Insertion 18451855
esv272665 CNV Insertion 20981092
nsv520653 CNV Gain 19592680
nsv830650 CNV Loss 17160897

Variation tolerance for UBR2 Gene

Residual Variation Intolerance Score: 2.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.07; 92.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBR2 Gene

HapMap Linkage Disequilibrium report
UBR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBR2 Gene

Disorders for UBR2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for UBR2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
johanson-blizzard syndrome
  • jbs
rapadilino syndrome
  • absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
- elite association - COSMIC cancer census association via MalaCards
Search UBR2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for UBR2

Genetic Association Database (GAD)
UBR2
Human Genome Epidemiology (HuGE) Navigator
UBR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBR2
genes like me logo Genes that share disorders with UBR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBR2 Gene

Publications for UBR2 Gene

  1. Role of N-end rule ubiquitin ligases UBR1 and UBR2 in regulating the leucine-mTOR signaling pathway. (PMID: 20298436) Kume K. … Handa H. (Genes Cells 2010) 3 4 23 67
  2. Identification of a novel antibody associated with autoimmune pancreatitis. (PMID: 19940298) Frulloni L. … Puccetti A. (N. Engl. J. Med. 2009) 3 23
  3. RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (PMID: 15317757) Yin J. … Wang W. (Hum. Mol. Genet. 2004) 3 23
  4. KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation. (PMID: 25582440) Hong J.H. … Raught B. (Mol. Cell Proteomics 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for UBR2 Gene

Sources for UBR2 Gene

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