Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7332
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin conjugating enzyme E2 L3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UBE2L3
Synonyms (NCBI Gene) Gene synonyms aliases
E2-F1, L-UBC, UBCH7, UbcM4
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
Summary Summary of gene provided in NCBI Entrez 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 (E1s), ubiquitin-conjuga
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023267 hsa-miR-122-5p Microarray 17612493
MIRT048772 hsa-miR-93-5p CLASH 23622248
MIRT038073 hsa-miR-423-5p CLASH 23622248
MIRT054872 hsa-miR-125a-5p qRT-PCR 24675842
MIRT1468205 hsa-miR-10a CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex TAS 8563171
GO:0000166 Function Nucleotide binding IEA
GO:0000209 Process Protein polyubiquitination IDA 10888878, 14765125
GO:0003713 Function Transcription coactivator activity IDA 15367689
GO:0003723 Function RNA binding HDA 22658674
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603721 12488 ENSG00000185651
Protein
UniProt ID P68036
Protein name Ubiquitin-conjugating enzyme E2 L3 (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme L3) (L-UBC) (UbcH7) (Ubiquitin carrier protein L3) (Ubiquitin-conjugating enzyme E2-F1) (Ubiquitin-protein ligase L3)
Protein function Ubiquitin-conjugating enzyme E2 that specifically acts with HECT-type and RBR family E3 ubiquitin-protein ligases. Does not function with most RING-containing E3 ubiquitin-protein ligases because it lacks intrinsic E3-independent reactivity with
PDB 1C4Z , 1FBV , 3SQV , 3SY2 , 4Q5E , 4Q5H , 5HPT , 5TTE , 5UDH , 6CP2 , 6DJW , 6DJX , 6N13 , 6XXU , 7B5L , 7B5N , 7OIK , 7V8F , 8EAZ , 8EB0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00179 UQ_con 6 144 Ubiquitin-conjugating enzyme Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous, with highest expression in testis.
Sequence
Sequence length 154
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ubiquitin mediated proteolysis
Parkinson disease
Pathways of neurodegeneration - multiple diseases
  Synthesis of active ubiquitin: roles of E1 and E2 enzymes
E3 ubiquitin ligases ubiquitinate target proteins
Antigen processing: Ubiquitination & Proteasome degradation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ankylosing Spondylitis Ankylosing spondylitis N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37762133
Alzheimer Disease Associate 30859738
Arthritis Juvenile Associate 25540605
Arthritis Rheumatoid Associate 21068098, 22045845
Autoimmune Diseases Associate 22045845, 25640675, 27094594, 34279042
Carcinoma Hepatocellular Associate 31886256
Celiac Disease Associate 26859134, 31127932
Cerebral Infarction Associate 30859738
Drug Hypersensitivity Associate 32603359
Glomerulonephritis IGA Associate 24458077