UBE2T (ubiquitin conjugating enzyme E2 T)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 29089
Gene name Ubiquitin conjugating enzyme E2 T
Gene symbol UBE2T
Synonyms (NCBI Gene)
FANCTHSPC150PIG50
Chromosome 1
Chromosome location 1q32.1
Summary 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
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs774357609 G>C Pathogenic Coding sequence variant, missense variant, 5 prime UTR variant
rs796052212 C>T Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
18
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
miRTarBase ID miRNA Experiments Reference
MIRT1468812 hsa-miR-3129-3p CLIP-seq
MIRT1468813 hsa-miR-4426 CLIP-seq
MIRT1468814 hsa-miR-4436a CLIP-seq
MIRT1468815 hsa-miR-4647 CLIP-seq
MIRT1468816 hsa-miR-4662b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (33)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000209 Process Protein polyubiquitination IBA
GO:0003682 Function Chromatin binding IDA 17938197
GO:0004842 Function Ubiquitin-protein transferase activity IDA 16916645, 17938197, 19111657, 20061386
GO:0005515 Function Protein binding IPI 24389026, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610538 25009 ENSG00000077152
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPD8
Protein name Ubiquitin-conjugating enzyme E2 T (EC 2.3.2.23) (Cell proliferation-inducing gene 50 protein) (E2 ubiquitin-conjugating enzyme T) (Ubiquitin carrier protein T) (Ubiquitin-protein ligase T)
Protein 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 ane
PDB 1YH2 , 4CCG , 5NGZ , 5OJJ , 6R75 , 7KZR , 7KZS , 7KZT , 7KZV , 8JUC , 8JVD , 8JVE , 8JVL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00179 UQ_con 6 → 147 Ubiquitin-conjugating enzyme Domain
Sequence
Sequence length 197
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Fanconi anemia pathway   Fanconi Anemia Pathway
Synthesis of active ubiquitin: roles of E1 and E2 enzymes
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Fanconi anemia complementation group T Pathogenic rs774357609, rs796052212 RCV000180789
RCV000180790
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (14)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (110)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia GENOMICS_ENGLAND_DG 28297620
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31977847 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anus, Imperforate Imperforate anus HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 27712593
★★★★★
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Marrow Failure Disorders Bone marrow failure syndromes Pubtator 26046368 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only