Gene Gene information from NCBI Gene database.
Entrez ID 7332
Gene name Ubiquitin conjugating enzyme E2 L3
Gene symbol UBE2L3
Synonyms (NCBI Gene)
E2-F1L-UBCUBCH7UbcM4
Chromosome 22
Chromosome location 22q11.21
Summary 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.
482
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603721 12488 ENSG00000185651
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 30859738 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 30805717
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 23749187, 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Juvenile Juvenile arthritis Pubtator 25540605 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 21068098, 22045845 Associate
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 Autoimmune Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 Autoimmune Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases GWASDB_DG 21383967
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 22045845, 22476155, 25640675, 27094594
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 22045845, 25640675, 27094594, 34279042 Associate
★☆☆☆☆
Found in Text Mining only