Human Gene UBR2 (ENST00000372901.2_6) from GENCODE V47lift37
  Description: ubiquitin protein ligase E3 component n-recognin 2, transcript variant 3 (from RefSeq NM_001363705.2)
Gencode Transcript: ENST00000372901.2_6
Gencode Gene: ENSG00000024048.11_11
Transcript (Including UTRs)
   Position: hg19 chr6:42,531,767-42,661,243 Size: 129,477 Total Exon Count: 47 Strand: +
Coding Region
   Position: hg19 chr6:42,532,058-42,658,911 Size: 126,854 Coding Exon Count: 47 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:42,531,767-42,661,243)mRNA (may differ from genome)Protein (1755 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: UBR2_HUMAN
DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase UBR2; EC=6.3.2.-; AltName: Full=N-recognin-2; AltName: Full=Ubiquitin-protein ligase E3-alpha-2; AltName: Full=Ubiquitin-protein ligase E3-alpha-II;
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.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with UBE2B; promotes the UBE2B-H2A interaction and the ubiquitination of histone H2A by UBE2B and UBR2 (By similarity). Interacts with RECQL4.
INTERACTION: P12504:vif (xeno); NbExp=3; IntAct=EBI-1237260, EBI-779991;
SUBCELLULAR LOCATION: Nucleus (By similarity). Note=Associated with chromatin during meiosis.
TISSUE SPECIFICITY: Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level).
DEVELOPMENTAL STAGE: Expressed in fetal pancreas.
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.
SIMILARITY: Belongs to the UBR1 family.
SIMILARITY: Contains 1 RING-type zinc finger.
SIMILARITY: Contains 1 UBR-type zinc finger.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: UBR2
Diseases sorted by gene-association score: johanson-blizzard syndrome (9), rapadilino syndrome (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.67 RPKM in Whole Blood
Total median expression: 381.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -138.40291-0.476 Picture PostScript Text
3' UTR -673.802332-0.289 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003769 - ClpS_core
IPR014719 - Ribosomal_L7/12_C/ClpS-like
IPR003126 - Znf_N-recognin
IPR013993 - Znf_N-recognin_met
IPR001841 - Znf_RING

Pfam Domains:
PF02207 - Putative zinc finger in N-recognin (UBR box)
PF02617 - ATP-dependent Clp protease adaptor protein ClpS
PF18995 - Proteolysis_6 C-terminal

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
54736 - ClpS-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3NY2 - X-ray MuPIT 3NY3 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8IWV8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity
GO:0070728 leucine binding

Biological Process:
GO:0000209 protein polyubiquitination
GO:0006342 chromatin silencing
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0007131 reciprocal meiotic recombination
GO:0007140 male meiosis
GO:0007141 male meiosis I
GO:0007283 spermatogenesis
GO:0010529 negative regulation of transposition
GO:0016567 protein ubiquitination
GO:0030163 protein catabolic process
GO:0032007 negative regulation of TOR signaling
GO:0033522 histone H2A ubiquitination
GO:0071233 cellular response to leucine
GO:0071596 ubiquitin-dependent protein catabolic process via the N-end rule pathway

Cellular Component:
GO:0000151 ubiquitin ligase complex
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC156045 - Synthetic construct Homo sapiens clone IMAGE:100062317, MGC:190459 ubiquitin protein ligase E3 component n-recognin 2 (UBR2) mRNA, encodes complete protein.
AY061884 - Homo sapiens ubiquitin ligase E3 alpha-II mRNA, complete cds.
BX647467 - Homo sapiens mRNA; cDNA DKFZp686C08114 (from clone DKFZp686C08114).
AK304070 - Homo sapiens cDNA FLJ55442 complete cds, highly similar to Ubiquitin-protein ligase E3 component N-recognin-2 (EC 6.-.-.-).
AK310532 - Homo sapiens cDNA, FLJ17574.
AK125795 - Homo sapiens cDNA FLJ43807 fis, clone TESTI4001106, weakly similar to Mus musculus ubiquitin protein ligase E3 component n-recognin 1.
BC024217 - Homo sapiens ubiquitin protein ligase E3 component n-recognin 2, mRNA (cDNA clone IMAGE:3837513), complete cds.
BC064512 - Homo sapiens ubiquitin protein ligase E3 component n-recognin 2, mRNA (cDNA clone IMAGE:3836601), complete cds.
CU687884 - Synthetic construct Homo sapiens gateway clone IMAGE:100022479 5' read UBR2 mRNA.
KJ898471 - Synthetic construct Homo sapiens clone ccsbBroadEn_07865 UBR2 gene, encodes complete protein.
BC080623 - Homo sapiens cDNA clone IMAGE:6302734.
AB002347 - Homo sapiens mRNA for KIAA0349 gene, partial cds.
AK026998 - Homo sapiens cDNA: FLJ23345 fis, clone HEP13679.
AK093676 - Homo sapiens cDNA FLJ36357 fis, clone THYMU2007493.
AK026948 - Homo sapiens cDNA: FLJ23295 fis, clone HEP10637.
AK127310 - Homo sapiens cDNA FLJ45378 fis, clone BRHIP3020046, highly similar to Ubiquitin-protein ligase E3 componentN-recognin-2 (EC 6.-.-.-).
HM370397 - Homo sapiens ubiquitin protein ligase E3 component n-recognin 2-like (UBR2) mRNA, partial sequence, alternatively spliced.
AK090874 - Homo sapiens cDNA FLJ33555 fis, clone BRAMY2009349, moderately similar to Mus musculus ubiquitin-protein ligase E3-alpha (Ubr1) mRNA.
AX746658 - Sequence 183 from Patent EP1308459.
JD042793 - Sequence 23817 from Patent EP1572962.
JD062859 - Sequence 43883 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8IWV8 (Reactome details) participates in the following event(s):

R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: C6orf133, ENST00000372901.1, KIAA0349, NM_001363705, O15057, Q4VXK2, Q5TFH6, Q6P2I2, Q6ZUD0, Q8IWV8, UBR2_HUMAN, uc318khr.1, uc318khr.2
UCSC ID: ENST00000372901.2_6
RefSeq Accession: NM_001363705.2
Protein: Q8IWV8 (aka UBR2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.