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Aliases for UBE2D3 Gene

Aliases for UBE2D3 Gene

  • Ubiquitin Conjugating Enzyme E2 D3 2 3 5
  • Ubiquitin-Conjugating Enzyme E2D 3 (Homologous To Yeast UBC4/5) 2 3
  • Ubiquitin-Conjugating Enzyme E2D 3 (UBC4/5 Homolog, Yeast) 2 3
  • (E3-Independent) E2 Ubiquitin-Conjugating Enzyme D3 3 4
  • Ubiquitin-Conjugating Enzyme E2-17 KDa 3 3 4
  • Ubiquitin-Conjugating Enzyme E2(17)KB 3 3 4
  • E2 Ubiquitin-Conjugating Enzyme D3 3 4
  • Ubiquitin Carrier Protein D3 3 4
  • Ubiquitin-Protein Ligase D3 3 4
  • UBCH5C 3 4
  • Ubiquitin Conjugating Enzyme E2D 3 3
  • Ubiquitin-Conjugating Enzyme E2 D3 3
  • Ubiquitin-Conjugating Enzyme E2D 3 2
  • EC 2.3.2.23 4
  • EC 2.3.2.24 4
  • E2(17)KB3 3
  • UBC4/5 3
  • UBC5C 4

External Ids for UBE2D3 Gene

Previous GeneCards Identifiers for UBE2D3 Gene

  • GC04M104116
  • GC04M104026
  • GC04M104175
  • GC04M104074
  • GC04M103936
  • GC04M103717
  • GC04M099453

Summaries for UBE2D3 Gene

Entrez Gene Summary for UBE2D3 Gene

  • The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. [provided by RefSeq, Jan 2017]

GeneCards Summary for UBE2D3 Gene

UBE2D3 (Ubiquitin Conjugating Enzyme E2 D3) is a Protein Coding gene. Diseases associated with UBE2D3 include Retinitis Pigmentosa 42. Among its related pathways are Gene Expression and Canonical NF-kappaB pathway. Gene Ontology (GO) annotations related to this gene include ligase activity and acid-amino acid ligase activity. An important paralog of this gene is UBE2D2.

UniProtKB/Swiss-Prot for UBE2D3 Gene

  • Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes Lys-11-, as well as Lys-48-linked polyubiquitination. Cooperates with the E2 CDC34 and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Acts as an initiator E2, priming the phosphorylated NFKBIA target at positions Lys-21 and/or Lys-22 with a monoubiquitin. Ubiquitin chain elongation is then performed by CDC34, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. Acts also as an initiator E2, in conjunction with RNF8, for the priming of PCNA. Monoubiquitination of PCNA, and its subsequent polyubiquitination, are essential events in the operation of the DNA damage tolerance (DDT) pathway that is activated after DNA damage caused by UV or chemical agents during S-phase. Associates with the BRCA1/BARD1 E3 ligase complex to perform ubiquitination at DNA damage sites following ionizing radiation leading to DNA repair. Targets DAPK3 for ubiquitination which influences promyelocytic leukemia protein nuclear body (PML-NB) formation in the nucleus. In conjunction with the MDM2 and TOPORS E3 ligases, functions ubiquitination of p53/TP53. Supports NRDP1-mediated ubiquitination and degradation of ERBB3 and of BRUCE which triggers apoptosis. In conjunction with the CBL E3 ligase, targets EGFR for polyubiquitination at the plasma membrane as well as during its internalization and transport on endosomes. In conjunction with the STUB1 E3 quality control E3 ligase, ubiquitinates unfolded proteins to catalyze their immediate destruction.

Gene Wiki entry for UBE2D3 Gene

Additional gene information for UBE2D3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBE2D3 Gene

Genomics for UBE2D3 Gene

GeneHancer (GH) Regulatory Elements for UBE2D3 Gene

Promoters and enhancers for UBE2D3 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
GH04J102823 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 702.3 +42.2 42221 7.1 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 UBE2D3 MANBA CISD2 LOC105377348 NFKB1 LOC100419096 ACTR3BP4 DDX3P3 SLC9B1 BDH2
GH04J102866 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 662.9 -0.5 -498 6 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC CISD2 UBE2D3 MANBA NFKB1 BDH2 PABPC1P7
GH04J103197 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 23.1 -329.2 -329208 2.2 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 E2F8 ZNF207 ZNF143 CENPE BDH2 NFKB1 UBE2D3 LOC100419096 MANBA KRT8P46
GH04J102499 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.5 +366.3 366330 5.2 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B NFKB1 ENSG00000260651 LOC105377621 MANBA LOC100419096 UBE2D3 BDH2 ENSG00000248161 LOC105377347
GH04J103018 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.8 -150.6 -150555 2.6 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SLC9B1 CISD2 MANBA UBE2D3 NFKB1 ACTR3BP4 SLC9B2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UBE2D3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UBE2D3 gene promoter:

Genomic Locations for UBE2D3 Gene

Genomic Locations for UBE2D3 Gene
chr4:102,794,383-102,868,896
(GRCh38/hg38)
Size:
74,514 bases
Orientation:
Minus strand
chr4:103,715,540-103,790,053
(GRCh37/hg19)

Genomic View for UBE2D3 Gene

Genes around UBE2D3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE2D3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE2D3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE2D3 Gene

Proteins for UBE2D3 Gene

  • Protein details for UBE2D3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61077-UB2D3_HUMAN
    Recommended name:
    Ubiquitin-conjugating enzyme E2 D3
    Protein Accession:
    P61077
    Secondary Accessions:
    • A6NJ93
    • A6NJB1
    • A6NM99
    • P47986
    • Q6IB88
    • Q6NXS4
    • Q8N924

    Protein attributes for UBE2D3 Gene

    Size:
    147 amino acids
    Molecular mass:
    16687 Da
    Quaternary structure:
    • Interacts with SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex; when Cullin is neddylated, the interaction between the E2 and the SCF complex is strengthened. Interacts with DAPK3. Interacts with BRCA1; the DNA damage checkpoint promotes the association with BRCA1 after ionizing radiation. Interacts non-covalently with ubiquitin. Interacts with E3 ubiquitin-protein ligase CBLC. Interacts with UBTD1 (PubMed:24211586).

    Three dimensional structures from OCA and Proteopedia for UBE2D3 Gene

    Alternative splice isoforms for UBE2D3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBE2D3 Gene

Post-translational modifications for UBE2D3 Gene

No data available for DME Specific Peptides for UBE2D3 Gene

Domains & Families for UBE2D3 Gene

Gene Families for UBE2D3 Gene

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

Protein Domains for UBE2D3 Gene

Suggested Antigen Peptide Sequences for UBE2D3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P61077

UniProtKB/Swiss-Prot:

UB2D3_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 UBE2D3: view

Function for UBE2D3 Gene

Molecular function for UBE2D3 Gene

UniProtKB/Swiss-Prot Function:
Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes Lys-11-, as well as Lys-48-linked polyubiquitination. Cooperates with the E2 CDC34 and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Acts as an initiator E2, priming the phosphorylated NFKBIA target at positions Lys-21 and/or Lys-22 with a monoubiquitin. Ubiquitin chain elongation is then performed by CDC34, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. Acts also as an initiator E2, in conjunction with RNF8, for the priming of PCNA. Monoubiquitination of PCNA, and its subsequent polyubiquitination, are essential events in the operation of the DNA damage tolerance (DDT) pathway that is activated after DNA damage caused by UV or chemical agents during S-phase. Associates with the BRCA1/BARD1 E3 ligase complex to perform ubiquitination at DNA damage sites following ionizing radiation leading to DNA repair. Targets DAPK3 for ubiquitination which influences promyelocytic leukemia protein nuclear body (PML-NB) formation in the nucleus. In conjunction with the MDM2 and TOPORS E3 ligases, functions ubiquitination of p53/TP53. Supports NRDP1-mediated ubiquitination and degradation of ERBB3 and of BRUCE which triggers apoptosis. In conjunction with the CBL E3 ligase, targets EGFR for polyubiquitination at the plasma membrane as well as during its internalization and transport on endosomes. In conjunction with the STUB1 E3 quality control E3 ligase, ubiquitinates unfolded proteins to catalyze their immediate destruction.
UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E1 ubiquitin-activating enzyme]-L-cysteine + N(6)-monoubiquitinyl-[acceptor protein]-L-lysine.

Enzyme Numbers (IUBMB) for UBE2D3 Gene

Gene Ontology (GO) - Molecular Function for UBE2D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 14667819
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with UBE2D3: view
genes like me logo Genes that share phenotypes with UBE2D3: view

Animal Models for UBE2D3 Gene

MGI Knock Outs for UBE2D3:
  • Ube2d3 Ube2d3<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for UBE2D3

CRISPR Products

miRNA for UBE2D3 Gene

miRTarBase miRNAs that target UBE2D3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2D3

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBE2D3 Gene

Localization for UBE2D3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBE2D3 Gene

Cell membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein.

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 UBE2D3 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
plasma membrane 3
endosome 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBE2D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0010008 endosome membrane IEA --
genes like me logo Genes that share ontologies with UBE2D3: view

Pathways & Interactions for UBE2D3 Gene

genes like me logo Genes that share pathways with UBE2D3: view

UniProtKB/Swiss-Prot P61077-UB2D3_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBE2D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II TAS --
GO:0000209 protein polyubiquitination IDA 14765125
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
GO:0006281 DNA repair IEA --
GO:0006464 cellular protein modification process TAS 8090726
genes like me logo Genes that share ontologies with UBE2D3: view

No data available for SIGNOR curated interactions for UBE2D3 Gene

Drugs & Compounds for UBE2D3 Gene

(4) Drugs for UBE2D3 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
NSC697923 Pharma Inhibitor of E2 complex Ubc13-Uev1A,cell permeable and selective, Selective UBE2N inhibitor 0

(1) Additional Compounds for UBE2D3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8

(1) ApexBio Compounds for UBE2D3 Gene

Compound Action Cas Number
NSC697923 Inhibitor of E2 complex Ubc13-Uev1A,cell permeable and selective 343351-67-7
genes like me logo Genes that share compounds with UBE2D3: view

Drug Products

Transcripts for UBE2D3 Gene

Unigene Clusters for UBE2D3 Gene

Ubiquitin-conjugating enzyme E2D 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2D3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBE2D3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: - - - - - -
SP2: - - - -
SP3: - -
SP4:
SP5: - - - - - - -
SP6: - - - - -
SP7:
SP8: -
SP9: - -

Relevant External Links for UBE2D3 Gene

GeneLoc Exon Structure for
UBE2D3
ECgene alternative splicing isoforms for
UBE2D3

Expression for UBE2D3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBE2D3 Gene

Protein differential expression in normal tissues from HIPED for UBE2D3 Gene

This gene is overexpressed in Rectum (14.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBE2D3 Gene



NURSA nuclear receptor signaling pathways regulating expression of UBE2D3 Gene:

UBE2D3

SOURCE GeneReport for Unigene cluster for UBE2D3 Gene:

Hs.518773

Evidence on tissue expression from TISSUES for UBE2D3 Gene

  • Nervous system(5)
  • Intestine(3.8)
  • Kidney(3.8)
  • Lung(3.8)
  • Liver(3.4)
  • Skin(3.3)
  • Blood(3.1)
  • Eye(2.7)
  • Pancreas(2.5)
  • Heart(2.4)
  • Spleen(2.4)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with UBE2D3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE2D3 Gene

Orthologs for UBE2D3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBE2D3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UBE2D3 34 34 33
  • 99.32 (n)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ube2d3 16 34 33
  • 98.41 (n)
rat
(Rattus norvegicus)
Mammalia Ube2d3 33
  • 98.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UBE2D3 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBE2D3 34 33
  • 96.6 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBE2D3 34
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBE2D3 34
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBE2D3 34 33
  • 93.42 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15169 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.20094 33
zebrafish
(Danio rerio)
Actinopterygii ube2d2l 34
  • 93 (a)
OneToMany
ube2d3 33
  • 80.73 (n)
wufj13d01 33
fruit fly
(Drosophila melanogaster)
Insecta eff 34 35
  • 90 (a)
OneToMany
CG10862 35
  • 50 (a)
CG2574 35
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea let-70 34 35
  • 90 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBC5 36
soybean
(Glycine max)
eudicotyledons Gma.13248 33
rice
(Oryza sativa)
Liliopsida Os02g0120600 33
  • 65.31 (n)
Os.11479 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10809 34
  • 81 (a)
OneToMany
Cin.1816 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1816 33
Species where no ortholog for UBE2D3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • 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 UBE2D3 Gene

ENSEMBL:
Gene Tree for UBE2D3 (if available)
TreeFam:
Gene Tree for UBE2D3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBE2D3: view image

Paralogs for UBE2D3 Gene

Paralogs for UBE2D3 Gene

(31) SIMAP similar genes for UBE2D3 Gene using alignment to 11 proteins:

  • UB2D3_HUMAN
  • D6R933_HUMAN
  • D6R980_HUMAN
  • D6R9F6_HUMAN
  • D6RA11_HUMAN
  • D6RAH7_HUMAN
  • D6RAW0_HUMAN
  • D6RGD0_HUMAN
  • D6RIZ3_HUMAN
  • D6RJB3_HUMAN
  • H9KV45_HUMAN
genes like me logo Genes that share paralogs with UBE2D3: view

Variants for UBE2D3 Gene

Sequence variations from dbSNP and Humsavar for UBE2D3 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs145312923 uncertain-significance, not specified 102,869,096(-) G/A upstream_transcript_variant
rs1000025929 -- 102,829,278(-) TTA/TTATTA genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000049983 -- 102,851,579(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000101061 -- 102,869,232(-) A/T upstream_transcript_variant
rs1000107627 -- 102,820,225(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UBE2D3 Gene

Variant ID Type Subtype PubMed ID
dgv9182n54 CNV loss 21841781
dgv9183n54 CNV loss 21841781
dgv9184n54 CNV loss 21841781
dgv9185n54 CNV loss 21841781
dgv9186n54 CNV loss 21841781
dgv965e199 CNV deletion 23128226
esv23610 CNV loss 19812545
esv2672686 CNV deletion 23128226
esv2675680 CNV deletion 23128226
esv2728080 CNV deletion 23290073
esv2759270 CNV gain 17122850
esv3564363 CNV deletion 23714750
esv3564364 CNV deletion 23714750
esv3564365 CNV deletion 23714750
esv3569635 CNV loss 25503493
esv3601621 CNV loss 21293372
esv3601622 CNV loss 21293372
nsv10541 CNV loss 18304495
nsv473003 CNV novel sequence insertion 20440878
nsv526256 CNV loss 19592680
nsv594957 CNV loss 21841781
nsv980236 CNV duplication 23825009

Variation tolerance for UBE2D3 Gene

Residual Variation Intolerance Score: 52.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBE2D3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE2D3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE2D3 Gene

Disorders for UBE2D3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UBE2D3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 42
  • rp42
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UBE2D3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UBE2D3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBE2D3 Gene

Publications for UBE2D3 Gene

  1. Topors functions as an E3 ubiquitin ligase with specific E2 enzymes and ubiquitinates p53. (PMID: 15247280) Rajendra R … Rubin EH (The Journal of biological chemistry 2004) 3 4 22 58
  2. Identification of a family of closely related human ubiquitin conjugating enzymes. (PMID: 8530467) Jensen JP … Weissman AM (The Journal of biological chemistry 1995) 2 3 4 58
  3. The UbL protein UBTD1 stably interacts with the UBE2D family of E2 ubiquitin conjugating enzymes. (PMID: 24211586) Uhler JP … Gustafsson CM (Biochemical and biophysical research communications 2014) 3 4 58
  4. UBCH7 reactivity profile reveals parkin and HHARI to be RING/HECT hybrids. (PMID: 21532592) Wenzel DM … Klevit RE (Nature 2011) 3 4 58
  5. The E2 ubiquitin-conjugating enzymes direct polyubiquitination to preferred lysines. (PMID: 20061386) David Y … Navon A (The Journal of biological chemistry 2010) 3 4 58

Products for UBE2D3 Gene