The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, ... See more...

Aliases for UBE2K Gene

Aliases for UBE2K Gene

  • Ubiquitin Conjugating Enzyme E2 K 2 3 5
  • Ubiquitin-Conjugating Enzyme E2K (UBC1 Homolog, Yeast) 2 3
  • Ubiquitin-Conjugating Enzyme E2(25K) 3 4
  • Ubiquitin-Conjugating Enzyme E2 K 3 4
  • E2 Ubiquitin-Conjugating Enzyme K 3 4
  • Huntingtin-Interacting Protein 2 3 4
  • Ubiquitin Carrier Protein 3 4
  • Ubiquitin-Protein Ligase 3 4
  • HIP-2 3 4
  • HIP2 3 4
  • LIG 3 4
  • Ubiquitin-Conjugating Enzyme E2-25 KDA 3
  • Ubiquitin-Conjugating Enzyme E2-25 KDa 4
  • Ubiquitin-Conjugating Enzyme E2-25K 4
  • Ubiquitin Conjugating Enzyme E2K 3
  • Huntingtin Interacting Protein 2 2
  • Ubiquitin-Conjugating Enzyme E2K 2
  • EC 6.3.2.19 52
  • EC 2.3.2.23 4
  • E2(25K) 3
  • E2-25K 3
  • HYPG 3
  • UBC1 3

External Ids for UBE2K Gene

Previous HGNC Symbols for UBE2K Gene

  • HIP2

Previous GeneCards Identifiers for UBE2K Gene

  • GC04P039377
  • GC04P039024

Summaries for UBE2K Gene

Entrez Gene Summary for UBE2K Gene

  • The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for UBE2K Gene

UBE2K (Ubiquitin Conjugating Enzyme E2 K) is a Protein Coding gene. Diseases associated with UBE2K include Myasthenic Syndrome, Congenital, 10 and Huntington Disease. Among its related pathways are Metabolism of proteins and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase binding. An important paralog of this gene is UBE2N.

UniProtKB/Swiss-Prot Summary for UBE2K Gene

  • Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro, in the presence or in the absence of BRCA1-BARD1 E3 ubiquitin-protein ligase complex, catalyzes the synthesis of 'Lys-48'-linked polyubiquitin chains. Does not transfer ubiquitin directly to but elongates monoubiquitinated substrate protein. Mediates the selective degradation of short-lived and abnormal proteins, such as the endoplasmic reticulum-associated degradation (ERAD) of misfolded lumenal proteins. Ubiquitinates huntingtin. May mediate foam cell formation by the suppression of apoptosis of lipid-bearing macrophages through ubiquitination and subsequence degradation of p53/TP53. Proposed to be involved in ubiquitination and proteolytic processing of NF-kappa-B; in vitro supports ubiquitination of NFKB1. In case of infection by cytomegaloviruses may be involved in the US11-dependent degradation of MHC class I heavy chains following their export from the ER to the cytosol. In case of viral infections may be involved in the HPV E7 protein-dependent degradation of RB1.

Gene Wiki entry for UBE2K Gene

Additional gene information for UBE2K Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBE2K Gene

Genomics for UBE2K Gene

GeneHancer (GH) Regulatory Elements for UBE2K Gene

Promoters and enhancers for UBE2K 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
GH04J039695 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 510.7 +0.5 547 5.6 EP300 CTCF SIN3A NRF1 MYC POLR2G NCOR1 PHF8 ZFX ZBTB5 UBE2K lnc-SMIM14-7 RPL9 RBM47 ENSG00000252975
GH04J039657 Enhancer 0.9 Ensembl ENCODE 10.5 -40.2 -40244 1.2 EP300 RELA RCOR1 TRIM22 BCL11A ZNF384 ARNT NBN SMARCA5 BATF UBE2K piR-43105-486 piR-50443-284 ENSG00000255458 LOC105374419
GH04J039656 Enhancer 0.8 Ensembl ENCODE 10.5 -41.9 -41943 1.4 EP300 FOXA2 BCL11A ZBTB33 JUND BATF IRF4 RAD21 RXRA JUNB piR-50443-284 UBE2K SMIM14 piR-43105-486 ENSG00000255458 LOC105374419
GH04J039611 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -82.7 -82664 7.6 ZBTB40 ZNF217 TCF12 JUND EP300 ZIC2 CLOCK FOXA1 KLF4 RFX1 ENSG00000286349 SMIM14 RPL9 UBE2K RF00066-140 RNU7-11P lnc-UGDH-4
GH04J039727 Enhancer 0.9 Ensembl ENCODE 6.6 +32.3 32256 7 FOS TRIM25 OSR2 ZNF316 MAFF MAFK NR2F1 SUPT5H JUND ZNF189 FJ601684-342 RPL9 ENSG00000255458 SMIM14 UBE2K ENSG00000249685 piR-34822-245
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBE2K on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBE2K

Top Transcription factor binding sites by QIAGEN in the UBE2K gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • ER-alpha
  • IRF-7A
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for UBE2K Gene

Genomic Locations for UBE2K Gene
chr4:39,698,044-39,782,792
(GRCh38/hg38)
Size:
84,749 bases
Orientation:
Plus strand
chr4:39,699,664-39,784,412
(GRCh37/hg19)
Size:
84,749 bases
Orientation:
Plus strand

Genomic View for UBE2K Gene

Genes around UBE2K on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE2K Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE2K Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE2K Gene

Proteins for UBE2K Gene

  • Protein details for UBE2K Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61086-UBE2K_HUMAN
    Recommended name:
    Ubiquitin-conjugating enzyme E2 K
    Protein Accession:
    P61086
    Secondary Accessions:
    • A6NJC1
    • A8K5Y9
    • B2RDF8
    • C9JGP1
    • O54806
    • P27924
    • Q16721
    • Q9CVV9
    • Q9Y2D3

    Protein attributes for UBE2K Gene

    Size:
    200 amino acids
    Molecular mass:
    22407 Da
    Quaternary structure:
    • Interacts with RNF138/NARF. Interacts with BRCA1.
    Miscellaneous:
    • [Isoform 2]: May be inactive.

    Three dimensional structures from OCA and Proteopedia for UBE2K Gene

    Alternative splice isoforms for UBE2K Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBE2K Gene

Selected DME Specific Peptides for UBE2K Gene

P61086:
  • GPPDTPY
  • RIKREFKEV
  • ICLDILK
  • PETYPFNPPKVRFIT
  • TLRTVLLSLQA

Post-translational modifications for UBE2K Gene

  • Sumoylation at Lys-14 impairs catalytic activity.
  • Ubiquitination at Lys72 and Lys165
  • Modification sites at PhosphoSitePlus

Domains & Families for UBE2K Gene

Gene Families for UBE2K Gene

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

Protein Domains for UBE2K Gene

Suggested Antigen Peptide Sequences for UBE2K Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ36214 fis, clone THYMU2000672, highly similar to Ubiquitin-conjugating enzyme E2-25 kDa (EC 6.3.2.19) (B3KSH4_HUMAN)
  • cDNA FLJ57995, moderately similar to Ubiquitin-conjugating enzyme E2-25 kDa (EC 6.3.2.19) (B4DIZ2_HUMAN)
  • Ubiquitin-protein ligase (UBE2K_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61086

UniProtKB/Swiss-Prot:

UBE2K_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 UBE2K: view

Function for UBE2K Gene

Molecular function for UBE2K Gene

UniProtKB/Swiss-Prot Function:
Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro, in the presence or in the absence of BRCA1-BARD1 E3 ubiquitin-protein ligase complex, catalyzes the synthesis of 'Lys-48'-linked polyubiquitin chains. Does not transfer ubiquitin directly to but elongates monoubiquitinated substrate protein. Mediates the selective degradation of short-lived and abnormal proteins, such as the endoplasmic reticulum-associated degradation (ERAD) of misfolded lumenal proteins. Ubiquitinates huntingtin. May mediate foam cell formation by the suppression of apoptosis of lipid-bearing macrophages through ubiquitination and subsequence degradation of p53/TP53. Proposed to be involved in ubiquitination and proteolytic processing of NF-kappa-B; in vitro supports ubiquitination of NFKB1. In case of infection by cytomegaloviruses may be involved in the US11-dependent degradation of MHC class I heavy chains following their export from the ER to the cytosol. In case of viral infections may be involved in the HPV E7 protein-dependent degradation of RB1.
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=. ;.
UniProtKB/Swiss-Prot Induction:
By aggregated low-density lipoprotein.

Enzyme Numbers (IUBMB) for UBE2K Gene

Phenotypes From GWAS Catalog for UBE2K Gene

Gene Ontology (GO) - Molecular Function for UBE2K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS,IDA 20061386
GO:0005515 protein binding IEA,IPI 17500595
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
GO:0031625 ubiquitin protein ligase binding IPI 16714285
genes like me logo Genes that share ontologies with UBE2K: view
genes like me logo Genes that share phenotypes with UBE2K: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2K

Clone Products

  • Addgene plasmids for UBE2K

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBE2K Gene

Localization for UBE2K Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBE2K Gene

Cytoplasm.

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 UBE2K gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Actin filaments (2)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBE2K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0032433 filopodium tip IEA --
genes like me logo Genes that share ontologies with UBE2K: view

Pathways & Interactions for UBE2K Gene

genes like me logo Genes that share pathways with UBE2K: view

Pathways by source for UBE2K Gene

1 R&D Systems pathway for UBE2K Gene
1 Cell Signaling Technology pathway for UBE2K Gene

UniProtKB/Swiss-Prot P61086-UBE2K_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBE2K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process TAS 8702625
GO:0010800 positive regulation of peptidyl-threonine phosphorylation IDA 24882218
GO:0010994 free ubiquitin chain polymerization IDA 24882218
GO:0016567 protein ubiquitination TAS --
GO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic process IEA --
genes like me logo Genes that share ontologies with UBE2K: view

No data available for SIGNOR curated interactions for UBE2K Gene

Drugs & Compounds for UBE2K Gene

(6) Drugs for UBE2K Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(2) Additional Compounds for UBE2K Gene - From: Novoseek and 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
genes like me logo Genes that share compounds with UBE2K: view

Transcripts for UBE2K Gene

mRNA/cDNA for UBE2K Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2K

Clone Products

  • Addgene plasmids for UBE2K

Alternative Splicing Database (ASD) splice patterns (SP) for UBE2K Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7
SP1: -
SP2: - -
SP3: - - - -
SP4: - -
SP5: - - -
SP6:

Relevant External Links for UBE2K Gene

GeneLoc Exon Structure for
UBE2K

Expression for UBE2K Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBE2K Gene

Protein differential expression in normal tissues from HIPED for UBE2K Gene

This gene is overexpressed in Breast (9.5) and Peripheral blood mononuclear cells (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBE2K Gene



Protein tissue co-expression partners for UBE2K Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBE2K

SOURCE GeneReport for Unigene cluster for UBE2K Gene:

Hs.50308

mRNA Expression by UniProt/SwissProt for UBE2K Gene:

P61086-UBE2K_HUMAN
Tissue specificity: Expressed in all tissues tested, including spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood leukocytes, T-lymphocytes, monocytes, granulocytes and bone marrow mononuclear cells. Highly expressed in brain, with highest levels found in cortex and striatum and at lower levels in cerebellum and brainstem.

Evidence on tissue expression from TISSUES for UBE2K Gene

  • Nervous system(4.9)
  • Blood(4.4)
  • Kidney(2.5)
  • Muscle(2.2)
  • Liver(2.1)
  • Lung(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with UBE2K: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE2K Gene

Orthologs for UBE2K Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBE2K Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia UBE2K 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBE2K 31 30
  • 99.67 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBE2K 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBE2K 31 30
  • 97.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UBE2K 31 30
  • 96.83 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ube2k 30
  • 95.83 (n)
mouse
(Mus musculus)
Mammalia Ube2k 17 31 30
  • 95.67 (n)
chicken
(Gallus gallus)
Aves UBE2K 31 30
  • 92.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBE2K 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ube2k 30
  • 83.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia hip2-prov 30
zebrafish
(Danio rerio)
Actinopterygii ube2ka 31
  • 97 (a)
OneToMany
ube2kb 31 30
  • 81.17 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004889 30
  • 65.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta UbcD4 31 30
  • 62.98 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ubc-20 31 30
  • 56.28 (n)
OneToMany
ubc-21 31
  • 43 (a)
OneToMany
C28G1.10 31
  • 31 (a)
OneToMany
ubc-22 31
  • 28 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18656g 30
  • 53.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBC1 31 30
  • 52.2 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR169C 30
  • 48.88 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons UBC27 30
  • 54.04 (n)
rice
(Oryza sativa)
Liliopsida Os01g0925800 30
  • 50.09 (n)
Os.18673 30
barley
(Hordeum vulgare)
Liliopsida Hv.6210 30
wheat
(Triticum aestivum)
Liliopsida Ta.6161 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
OneToOne
Cin.4828 30
bread mold
(Neurospora crassa)
Ascomycetes NCU01225 30
  • 51.61 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubc1 30
  • 50.18 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4828 30
Species where no ortholog for UBE2K was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UBE2K Gene

ENSEMBL:
Gene Tree for UBE2K (if available)
TreeFam:
Gene Tree for UBE2K (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBE2K: view image

Paralogs for UBE2K Gene

(23) SIMAP similar genes for UBE2K Gene using alignment to 5 proteins:

  • UBE2K_HUMAN
  • B4DIZ2_HUMAN
  • D6RDM7_HUMAN
  • D6RFX1_HUMAN
  • L8E874_HUMAN

Pseudogenes.org Pseudogenes for UBE2K Gene

genes like me logo Genes that share paralogs with UBE2K: view

Variants for UBE2K Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBE2K Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
717387 Likely Benign: not provided 39,737,450(+) G/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for UBE2K Gene

Structural Variations from Database of Genomic Variants (DGV) for UBE2K Gene

Variant ID Type Subtype PubMed ID
dgv1475e212 CNV loss 25503493
dgv5193n100 CNV gain 25217958
dgv9016n54 CNV loss 21841781
dgv9017n54 CNV loss 21841781
dgv9018n54 CNV loss 21841781
esv2660659 CNV deletion 23128226
esv2666876 CNV deletion 23128226
esv2669309 CNV deletion 23128226
esv2727459 CNV deletion 23290073
esv3563738 CNV deletion 23714750
esv3563739 CNV deletion 23714750
esv3600289 CNV loss 21293372
esv3600290 CNV loss 21293372
esv3600291 CNV loss 21293372
nsv436937 CNV loss 16327808
nsv441870 CNV loss 18776908
nsv516320 CNV loss 19592680
nsv518644 CNV loss 19592680
nsv528308 CNV gain 19592680
nsv594014 CNV loss 21841781
nsv594026 CNV loss 21841781
nsv594029 CNV loss 21841781
nsv594030 CNV gain 21841781
nsv967738 CNV duplication 23825009

Variation tolerance for UBE2K Gene

Residual Variation Intolerance Score: 56.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.09; 2.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBE2K Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE2K

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE2K Gene

Disorders for UBE2K Gene

MalaCards: The human disease database

(9) MalaCards diseases for UBE2K Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search UBE2K in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UBE2K

genes like me logo Genes that share disorders with UBE2K: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBE2K Gene

Publications for UBE2K Gene

  1. E2-BRCA1 RING interactions dictate synthesis of mono- or specific polyubiquitin chain linkages. (PMID: 17873885) Christensen DE … Klevit RE (Nature structural & molecular biology 2007) 2 3 4 23 54
  2. E2-25K mediates US11-triggered retro-translocation of MHC class I heavy chains in a permeabilized cell system. (PMID: 16868077) Flierman D … Chau V (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 23 54
  3. Induction of ubiquitin-conjugating enzyme by aggregated low density lipoprotein in human macrophages and its implications for atherosclerosis. (PMID: 10634809) Kikuchi J … Sakurabayashi I (Arteriosclerosis, thrombosis, and vascular biology 2000) 3 4 23 54
  4. Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. (PMID: 8702625) Kalchman MA … Hayden MR (The Journal of biological chemistry 1996) 2 3 4 54
  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 54

Products for UBE2K Gene

Sources for UBE2K Gene