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The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015] See more...
Aliases for UBE2T Gene
Aliases for UBE2T Gene
External Ids for UBE2T Gene
- HGNC: 25009
- Entrez Gene: 29089
- Ensembl: ENSG00000077152
- OMIM: 610538
- UniProtKB: Q9NPD8
Previous GeneCards Identifiers for UBE2T Gene
- GC01M199033
- GC01M200567
- GC01M173466
Summaries for UBE2T Gene
-
The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
GeneCards Summary for UBE2T Gene
UBE2T (Ubiquitin Conjugating Enzyme E2 T) is a Protein Coding gene. Diseases associated with UBE2T include Fanconi Anemia, Complementation Group T and Fanconi Anemia, Complementation Group A. Among its related pathways are Protein ubiquitination and Gastric Cancer Network 2. Gene Ontology (GO) annotations related to this gene include chromatin binding and ubiquitin-protein transferase activity. An important paralog of this gene is UBE2N.
UniProtKB/Swiss-Prot Summary for UBE2T Gene
-
Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair. Acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:19589784, PubMed:28437106). Also mediates monoubiquitination of FANCL and FANCI (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:19589784). May contribute to ubiquitination and degradation of BRCA1 (PubMed:19887602). In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11'-, 'Lys-27'-, 'Lys-48'- and 'Lys-63'-linked polyubiquitination (PubMed:20061386).
Additional gene information for UBE2T Gene
- Monarch Initiative
- Search for UBE2T at DataMed
- Search for UBE2T at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBE2T Gene
Genomics for UBE2T Gene
GeneHancer (GH) Regulatory Elements for UBE2T Gene
Promoters and enhancers for UBE2T Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around UBE2T on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the UBE2T gene promoter:
-
- AP-4
- Arnt
- COMP1
- FAC1
- HFH-1
- HNF-3beta
- MEF-2A
- MyoD
- NF-kappaB1
- Pax-6
Genomic Locations for UBE2T Gene
Genomic Locations for UBE2T Gene
- chr1:202,331,657-202,341,980
- (GRCh38/hg38)
- Size:
- 10,324 bases
- Orientation:
- Minus strand
- chr1:202,300,785-202,311,108
- (GRCh37/hg19)
- Size:
- 10,324 bases
- Orientation:
- Minus strand
Genomic View for UBE2T Gene
Genes around UBE2T on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.1 by HGNC
- 1q32.1 by Entrez Gene
- 1q32.1 by Ensembl
UBE2T Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for UBE2T Gene
Proteins for UBE2T Gene
-
Protein details for UBE2T Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NPD8-UBE2T_HUMAN
- Recommended name:
- Ubiquitin-conjugating enzyme E2 T
- Protein Accession:
- Q9NPD8
- Q2TU36
Protein attributes for UBE2T Gene
- Size:
- 197 amino acids
- Molecular mass:
- 22521 Da
- Quaternary structure:
-
- Directly interacts with FANCL (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:21775430, PubMed:24389026). Interacts with BRCA1 (PubMed:19887602).
Protein Expression for UBE2T Gene
Post-translational modifications for UBE2T Gene
- Auto-ubiquitinated. Effects of auto-monoubiquitination at Lys-91 and Lys-182 are unclear: according to a report, monoubiquitination inactivates E2 enzyme activity (PubMed:16916645). In contrast, according to another report, autoubiquitination does not affect E2 enzyme activity (PubMed:19111657).
-
Ubiquitination at Lys48, Lys91, and Lys182
- NX_Q9NPD8 (NX_Q9NPD8-1)
- Modification sites at PhosphoSitePlus
Other Protein References for UBE2T Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ UBE2T Antibody
-
Creative Biolabs
- Hi-Affi™ Recombinant Rabbit Anti-UBE2T Monoclonal Antibody (DS3762AB)
- Mouse Anti-UBE2T Recombinant Antibody (CBFYU-158)
- Rabbit Anti-UBE2T Recombinant Antibody (CBFYU-159)
- Rabbit Anti-UBE2T Recombinant Antibody (CBFYH-3673)
- Mouse Anti-UBE2T Recombinant Antibody (1E12-4A3)
- Mouse Anti-UBE2T Recombinant Antibody (CBFYU-157)
- Mouse Anti-UBE2T Recombinant Antibody (CBFYH-3674)
- Recombinant Mouse Anti-Human UBE2T Antibody
- Novus Biologicals Antibodies for UBE2T
-
Abcam antibodies for UBE2T
- Invitrogen Antibodies for UBE2T (AFLGC-UBE2T)
-
Biorbyt antibodies for UBE2T
-
Santa Cruz Biotechnology (SCBT) Antibodies for UBE2T
Protein Products
- G Biosciences Human UBE2T/Ubiquitin-conjugating enzyme E2 T, Liquid
- Atlas Antibodies PrEST Antigen UBE2T
- Search Origene for MassSpec and Protein Over-expression Lysates for UBE2T
- Origene Custom Protein Services for UBE2T
- Novus Biologicals lysates for UBE2T
- Sino Biological Recombinant Proteins for UBE2T
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for UBE2T
-
ProSci Proteins for UBE2T
-
Abcam proteins for UBE2T
No data available for DME Specific Peptides for UBE2T Gene
Domains & Families for UBE2T Gene
Gene Families for UBE2T Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for UBE2T Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for UBE2T Gene
- GenScript: Design optimal peptide antigens:
-
- Ubiquitin-protein ligase T (UBE2T_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NPD8- Family:
-
- Belongs to the ubiquitin-conjugating enzyme family.
Function for UBE2T Gene
Molecular function for UBE2T Gene
- UniProtKB/Swiss-Prot Function:
- Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair. Acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:19589784, PubMed:28437106). Also mediates monoubiquitination of FANCL and FANCI (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:19589784). May contribute to ubiquitination and degradation of BRCA1 (PubMed:19887602). In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11'-, 'Lys-27'-, 'Lys-48'- and 'Lys-63'-linked polyubiquitination (PubMed:20061386).
- 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, ECO:0000269 PubMed:20061386};.
- UniProtKB/Swiss-Prot Induction:
- Down-regulated following hypoxia. Up-regulated in breast cancers.
Enzyme Numbers (IUBMB) for UBE2T Gene
Phenotypes From GWAS Catalog for UBE2T Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003682 | chromatin binding | IDA | 17938197 |
| GO:0004842 | ubiquitin-protein transferase activity | IDA | 16916645 |
| GO:0005515 | protein binding | IPI | 24389026 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for UBE2T Gene
- GenomeRNAi human phenotypes for UBE2T:
-
- Decreased vesicular stomatitis virus (VSV) infection
- Increased cell death HMECs cells
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased NF-kappaB reporter expression
- Increased viability
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Model Products
-
Taconic Biosciences Mouse Models for UBE2T
CRISPR Products
-
OriGene CRISPR knockouts for UBE2T
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UBE2T
- genomics-online: gRNA clones - Search for available Ube2t gRNA products
- Overview of 108 available Ube2t gene related products
-
Recommended
- Applied Biological Materials (abm): CRISPR Clones for UBE2T - Select products 50% OFF >
- * UBE2T CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * UBE2T CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for UBE2T
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for UBE2T
- Browse OriGene Inhibitory RNA Products For UBE2T
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2T
- genomics-online: shRNA clones - Search for available Ube2t shRNA products
- Overview of 108 available Ube2t gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for UBE2T
- Addgene plasmids for UBE2T
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UBE2T
- genomics-online: cdna clones - Search for available Ube2t CDNA products
- Overview of 108 available Ube2t gene related products
-
Recommended
- orf clones - Search for available Ube2t ORF products
- Overview of 108 available Ube2t gene related products
-
Recommended
- Applied Biological Materials (abm): Clones for UBE2T - Select products 50% OFF >
- * UBE2T as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * UBE2T tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for UBE2T
No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UBE2T Gene
Localization for UBE2T Gene
Subcellular locations from UniProtKB/Swiss-Prot for UBE2T Gene
- Nucleus. Note=Accumulates to chromatin.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 2 |
| cytosol | 2 |
- Nucleoli (2)
- Nucleus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS,IBA | 17938197 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IDA | -- |
Pathways & Interactions for UBE2T Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Protein ubiquitination | ||
| 2 | Fanconi anemia pathway | ||
| 3 | Metabolism of proteins | ||
| 4 | DNA Damage | ||
| 5 | Remodeling of Adherens Junctions |
Remodeling of Adherens Junctions
-
|
|
Pathways by source for UBE2T Gene
2 BioSystems pathways for UBE2T Gene
6 Reactome pathways for UBE2T Gene
1 KEGG pathway for UBE2T Gene
1 R&D Systems pathway for UBE2T Gene
2 Qiagen pathways for UBE2T Gene
- Remodeling of Adherens Junctions
- Ubiquitin-Proteasome Dependent Proteolysis
1 Cell Signaling Technology pathway for UBE2T Gene
UniProtKB/Swiss-Prot Q9NPD8-UBE2T_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for UBE2T Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006281 | DNA repair | IMP | 16916645 |
| GO:0006513 | protein monoubiquitination | IDA | 16916645 |
| GO:0006974 | cellular response to DNA damage stimulus | IBA,IMP | 16916645 |
| GO:0016567 | protein ubiquitination | TAS | -- |
| GO:0035519 | protein K29-linked ubiquitination | IDA | 20061386 |
No data available for SIGNOR curated interactions for UBE2T Gene
Drugs & Compounds for UBE2T Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Drug Products
- G Biosciences Human UBE2T/Ubiquitin-conjugating enzyme E2 T, Liquid
- Atlas Antibodies PrEST Antigen UBE2T
Transcripts for UBE2T Gene
mRNA/cDNA for UBE2T Gene
- (2) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (167) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000460852 657 bps (ENST00000460852.2)
- ENST00000487227 1065 bps (ENST00000487227.6)
- ENST00000643045 824 bps (ENST00000643045.1)
- ENST00000646595 1499 bps (ENST00000646595.1)
- ENST00000646651 878 bps (ENST00000646651.1)
CRISPR Products
-
OriGene CRISPR knockouts for UBE2T
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UBE2T
- genomics-online: gRNA clones - Search for available Ube2t gRNA products
- Overview of 108 available Ube2t gene related products
-
Recommended
- Applied Biological Materials (abm): CRISPR Clones for UBE2T - Select products 50% OFF >
- * UBE2T CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * UBE2T CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for UBE2T
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for UBE2T
- Browse OriGene Inhibitory RNA Products For UBE2T
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2T
- genomics-online: shRNA clones - Search for available Ube2t shRNA products
- Overview of 108 available Ube2t gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for UBE2T
- Addgene plasmids for UBE2T
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UBE2T
- genomics-online: cdna clones - Search for available Ube2t CDNA products
- Overview of 108 available Ube2t gene related products
-
Recommended
- orf clones - Search for available Ube2t ORF products
- Overview of 108 available Ube2t gene related products
-
Recommended
- Applied Biological Materials (abm): Clones for UBE2T - Select products 50% OFF >
- * UBE2T as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * UBE2T tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||
| SP4: |
Expression for UBE2T Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Gonad
- Secondary Spermatocyte Seminiferous Tubules
- Primordial Germ Cells Primitive Gonad
-
Testis (Reproductive System)
- Secondary Spermatocyte Seminiferous Tubules
- Neural Tube (Nervous System)
This gene is overexpressed in Liver, secretome (46.3) and Fetal ovary (10.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBE2T Gene
NURSA nuclear receptor signaling pathways regulating expression of UBE2T Gene:
UBE2TSOURCE GeneReport for Unigene cluster for UBE2T Gene:
Hs.5199Evidence on tissue expression from TISSUES for UBE2T Gene
- Blood(4.3)
- Lung(4.2)
- Adrenal gland(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE2T Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- neck
- nose
- outer ear
- pituitary gland
- skull
Thorax:
- breast
- esophagus
- heart
- lung
- rib
- rib cage
Abdomen:
- intestine
- kidney
- large intestine
- liver
- stomach
Pelvis:
- anus
- ovary
- pelvis
- penis
- prostate
- rectum
- testicle
- ureter
- uterus
- vagina
- vulva
Limb:
- arm
- digit
- finger
- forearm
- hand
- radius
- upper limb
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- hair
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for UBE2T
-
OriGene qPCR primer pairs and template standards for UBE2T
- genomics-online: primer clones - Search for available Ube2t Primer products
- Overview of 108 available Ube2t gene related products
-
Recommended
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UBE2T Gene
Orthologs for UBE2T Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | UBE2T 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | UBE2T 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ube2t 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ube2t 32 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | UBE2T 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | UBE2T 33 32 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | UBE2T 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | UBE2T 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | UBE2T 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ube2t 32 |
|
||
| Str.3516 32 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | hspc150-prov 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ube2t 33 32 |
|
OneToOne | |
| wufj86h11 32 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10911 32 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | ben 33 |
|
OneToMany | |
| CG3473 33 |
|
OneToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | UBC13 33 |
|
OneToMany | |
| rice (Oryza sativa) |
Liliopsida | Os01g0605300 32 |
|
||
| Os.23694 32 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3070 33 |
|
OneToOne |
- Species where no ortholog for UBE2T 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)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- 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)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for UBE2T Gene
- ENSEMBL:
- Gene Tree for UBE2T (if available)
- TreeFam:
- Gene Tree for UBE2T (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for UBE2T: view image
Paralogs for UBE2T Gene
Paralogs for UBE2T Gene
(21) SIMAP similar genes for UBE2T Gene using alignment to 1 proteins:
- UBE2T_HUMAN
Variants for UBE2T Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs774357609 | pathogenic, Fanconi anemia, complementation group T, Fanconi anemia complementation group T (FANCT) [MIM:616435] | 202,335,751(-) | G/C | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
| rs796052212 | pathogenic, Fanconi anemia, complementation group T | 202,334,984(-) | C/T | intron_variant | |
| rs1000418710 | -- | 202,334,189(-) | C/A | intron_variant | |
| rs1000474381 | -- | 202,334,489(-) | T/G | intron_variant | |
| rs1000571613 | -- | 202,339,797(-) | T/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2721572 | CNV | deletion | 23290073 |
| esv3578378 | CNV | loss | 25503493 |
| esv3588581 | CNV | loss | 21293372 |
Residual Variation Intolerance Score:
56.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.71;
15.06% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for UBE2T Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE2T Gene
Disorders for UBE2T Gene
(8) MalaCards diseases for UBE2T Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fanconi anemia, complementation group t |
|
|
| fanconi anemia, complementation group a |
|
|
| fanconi anemia, complementation group r |
|
|
| fanconi anemia, complementation group v |
|
|
| fanconi anemia, complementation group q |
|
|
Search UBE2T in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
UBE2T_HUMAN- Fanconi anemia complementation group T (FANCT) [MIM:616435]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:26046368}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for UBE2T
No data available for Genatlas for UBE2T Gene
Publications for UBE2T Gene
- Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. (PMID: 26046368) Hira A … Yabe M (American journal of human genetics 2015) 2 3 4 56
- Ubiquitination and downregulation of BRCA1 by ubiquitin-conjugating enzyme E2T overexpression in human breast cancer cells. (PMID: 19887602) Ueki T … Katagiri T (Cancer research 2009) 3 4 23 56
- UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation. (PMID: 16916645) Machida YJ … Dutta A (Molecular cell 2006) 2 3 4 56
- Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 56
- Allosteric Targeting of the Fanconi Anemia Ubiquitin-Conjugating Enzyme Ube2T by Fragment Screening. (PMID: 28437106) Morreale FE … Ciulli A (Journal of medicinal chemistry 2017) 3 4 56
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