Aliases for UBE2U Gene

Aliases for UBE2U Gene

  • Ubiquitin Conjugating Enzyme E2 U 2 3 5
  • Ubiquitin-Conjugating Enzyme E2 U 3 4
  • E2 Ubiquitin-Conjugating Enzyme U 3 4
  • Ubiquitin Carrier Protein U 3 4
  • Ubiquitin-Protein Ligase U 3 4
  • Ubiquitin Conjugating Enzyme E2 U (Putative) 3
  • Ubiquitin-Conjugating Enzyme E2U (Putative) 2
  • Ubiquitin Conjugating Enzyme E2U (Putative) 3
  • Testicular Tissue Protein Li 216 3
  • EC 2.3.2.23 4
  • MGC35130 2
  • UBE2U 5

External Ids for UBE2U Gene

Previous GeneCards Identifiers for UBE2U Gene

  • GC01P064382
  • GC01P064669
  • GC01P062778
  • GC01P064203
  • GC01P064187
  • GC01P064214

Summaries for UBE2U Gene

GeneCards Summary for UBE2U Gene

UBE2U (Ubiquitin Conjugating Enzyme E2 U) is a Protein Coding gene. Diseases associated with UBE2U include Brachydactyly, Type E2 and Riddle Syndrome. Among its related pathways are Ubiquitin-Proteasome Dependent Proteolysis and Ubiquitin mediated proteolysis. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase activity. An important paralog of this gene is UBE2A.

UniProtKB/Swiss-Prot Summary for UBE2U Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBE2U Gene

Genomics for UBE2U Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UBE2U Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J064203 Promoter 0.3 EPDnew 250.7 +0.9 887 0.1 MK280269-003 UBE2U piR-49732-022 HSALNG0004149 CACHD1
GH01J064204 Enhancer 0.2 Ensembl 250.7 +0.3 299 0.2 MK280269-003 UBE2U piR-48300-010 piR-49732-022 piR-54592-019 HSALNG0004149 CACHD1
GH01J064183 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 23.2 -18.8 -18847 1.5 ZIC2 ZNF639 ZNF843 SP2 ZNF585B PRDM6 SPI1 ZBTB1 ZNF2 MAFK UBE2U ITGB3BP EFCAB7 JAK1 LINC01359 SLC2A3P2 ENSG00000284928 lnc-ROR1-2 ROR1
GH01J064171 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 15.3 -30.6 -30630 3.5 ZSCAN16 BCL11A FEZF1 ZEB1 ZNF610 CEBPB FOXA2 ZNF639 KLF7 ZNF843 HSALNG0004144 ROR1-AS1 piR-36588-010 ITGB3BP EFCAB7 LINC01359 DLEU2L UBE2U PGM1 ROR1
GH01J064160 Enhancer 0.7 Ensembl ENCODE CraniofacialAtlas 29.5 -40.9 -40930 1.9 OSR2 CEBPB UBE2U piR-37895-005 ROR1-AS1 HSALNG0004144 HSALNG0004141 ROR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBE2U on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBE2U

Top Transcription factor binding sites by QIAGEN in the UBE2U gene promoter:
  • AREB6
  • ER-alpha
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Ik-3
  • Nkx2-5
  • Pax-2
  • RREB-1
  • Sox5

Genomic Locations for UBE2U Gene

Latest Assembly
chr1:64,202,802-64,267,381
(GRCh38/hg38)
Size:
64,580 bases
Orientation:
Plus strand

Previous Assembly
chr1:64,669,306-64,733,051
(GRCh37/hg19 by Entrez Gene)
Size:
63,746 bases
Orientation:
Plus strand

chr1:64,669,310-64,733,051
(GRCh37/hg19 by Ensembl)
Size:
63,742 bases
Orientation:
Plus strand

Genomic View for UBE2U Gene

Genes around UBE2U on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE2U Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE2U Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE2U Gene

Proteins for UBE2U Gene

  • Protein details for UBE2U Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VVX9-UBE2U_HUMAN
    Recommended name:
    Ubiquitin-conjugating enzyme E2 U
    Protein Accession:
    Q5VVX9
    Secondary Accessions:
    • Q8N1D4

    Protein attributes for UBE2U Gene

    Size:
    321 amino acids
    Molecular mass:
    37741 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for UBE2U Gene

    Alternative splice isoforms for UBE2U Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBE2U Gene

Post-translational modifications for UBE2U Gene

No data available for DME Specific Peptides for UBE2U Gene

Domains & Families for UBE2U Gene

Gene Families for UBE2U Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for UBE2U Gene

InterPro:
Blocks:
  • Ubiquitin-conjugating enzymes
ProtoNet:

Suggested Antigen Peptide Sequences for UBE2U Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin-protein ligase U (UBE2U_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VVX9

UniProtKB/Swiss-Prot:

UBE2U_HUMAN :
  • Belongs to the ubiquitin-conjugating enzyme family.
Family:
  • Belongs to the ubiquitin-conjugating enzyme family.
genes like me logo Genes that share domains with UBE2U: view

Function for UBE2U Gene

Molecular function for UBE2U Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the covalent attachment of ubiquitin to other proteins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.; EC=2.3.2.23; Evidence={ECO:0000255|PROSITE-ProRule:PRU00388, ECO:0000255|PROSITE-ProRule:PRU10133};.

Enzyme Numbers (IUBMB) for UBE2U Gene

Phenotypes From GWAS Catalog for UBE2U Gene

Gene Ontology (GO) - Molecular Function for UBE2U Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 19549727
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
GO:0061631 ubiquitin conjugating enzyme activity IBA 21873635
genes like me logo Genes that share ontologies with UBE2U: view
genes like me logo Genes that share phenotypes with UBE2U: view

Animal Models for UBE2U Gene

MGI Knock Outs for UBE2U:
  • Ube2u Ube2u<tm1e.1(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2U

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for UBE2U Gene

Localization for UBE2U Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBE2U gene
Compartment Confidence
nucleus 4
cytosol 2
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for UBE2U Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA --
GO:0033503 HULC complex IBA 21873635
genes like me logo Genes that share ontologies with UBE2U: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for UBE2U Gene

Pathways & Interactions for UBE2U Gene

genes like me logo Genes that share pathways with UBE2U: view

Pathways by source for UBE2U Gene

1 KEGG pathway for UBE2U Gene
2 Qiagen pathways for UBE2U Gene
  • Remodeling of Adherens Junctions
  • Ubiquitin-Proteasome Dependent Proteolysis

UniProtKB/Swiss-Prot Q5VVX9-UBE2U_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBE2U Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IBA 21873635
GO:0006281 DNA repair IBA 21873635
GO:0016567 protein ubiquitination IEA --
GO:0016574 histone ubiquitination IBA 21873635
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with UBE2U: view

No data available for SIGNOR curated interactions for UBE2U Gene

Drugs & Compounds for UBE2U Gene

(3) Drugs for UBE2U Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for UBE2U Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with UBE2U: view

Transcripts for UBE2U Gene

mRNA/cDNA for UBE2U Gene

5 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2U

Alternative Splicing Database (ASD) splice patterns (SP) for UBE2U Gene

No ASD Table

Relevant External Links for UBE2U Gene

GeneLoc Exon Structure for
UBE2U

Expression for UBE2U Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBE2U Gene

mRNA differential expression in normal tissues according to GTEx for UBE2U Gene

This gene is overexpressed in Testis (x48.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBE2U

SOURCE GeneReport for Unigene cluster for UBE2U Gene:

Hs.388746

Evidence on tissue expression from TISSUES for UBE2U Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with UBE2U: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE2U Gene

Orthologs for UBE2U Gene

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

Orthologs for UBE2U Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UBE2U 30 31
  • 98.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UBE2U 30 31
  • 83.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UBE2U 30 31
  • 82.74 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ube2u 30 17 31
  • 73.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ube2u 30
  • 71.41 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia UBE2U 31
  • 53 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UBE2U 31
  • 29 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UBE2U 31
  • 41 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ube2u 30
  • 56.48 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:55512 31
  • 34 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD6 31
  • 29 (a)
OneToMany
Species where no ortholog for UBE2U was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (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)
  • Worm (Caenorhabditis elegans)

Evolution for UBE2U Gene

ENSEMBL:
Gene Tree for UBE2U (if available)
TreeFam:
Gene Tree for UBE2U (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBE2U: view image

Paralogs for UBE2U Gene

(14) SIMAP similar genes for UBE2U Gene using alignment to 3 proteins:

  • UBE2U_HUMAN
  • V9GYA6_HUMAN
  • V9GZ31_HUMAN

Pseudogenes.org Pseudogenes for UBE2U Gene

genes like me logo Genes that share paralogs with UBE2U: view

Variants for UBE2U Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBE2U Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs7532933 - p.Ile90Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UBE2U Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for UBE2U Gene

Variant ID Type Subtype PubMed ID
esv1385597 CNV deletion 17803354
esv2749096 CNV deletion 23290073
esv2749107 CNV deletion 23290073
esv2749118 CNV deletion 23290073
esv2758938 CNV loss 17122850
nsv477076 CNV novel sequence insertion 20440878
nsv546436 CNV gain 21841781
nsv546437 CNV loss 21841781

Variation tolerance for UBE2U Gene

Residual Variation Intolerance Score: 66.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.77; 58.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBE2U Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE2U

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE2U Gene

Disorders for UBE2U Gene

MalaCards: The human disease database

(3) MalaCards diseases for UBE2U Gene - From: COP and GCD

Disorder Aliases PubMed IDs
brachydactyly, type e2
  • bde2
riddle syndrome
  • ridl
hypertropia
- elite association - COSMIC cancer census association via MalaCards
Search UBE2U in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UBE2U

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with UBE2U: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBE2U Gene

Publications for UBE2U Gene

  1. A human ubiquitin conjugating enzyme (E2)-HECT E3 ligase structure-function screen. (PMID: 22496338) Sheng Y … Dhe-Paganon S (Molecular & cellular proteomics : MCP 2012) 2 3 4
  2. An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties (RIDDLE) Syndrome Protein RNF168. (PMID: 27903633) Guo Y … Huen MS (The Journal of biological chemistry 2017) 2 3
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Cbl interacts with multiple E2s in vitro and in cells. (PMID: 31120930) Liyasova MS … Lipkowitz S (PloS one 2019) 3

Products for UBE2U Gene

Sources for UBE2U Gene