UBE2E2
protein-codingubiquitin conjugating enzyme E2 E2, the group of Ubiquitin conjugating enzymes E2
Gene summary
Enables ISG15 transferase activity and ubiquitin conjugating enzyme activity. Involved in protein modification by small protein conjugation. Acts upstream of or within DNA damage response and positive regulation of G1/S transition of mitotic cell cycle. Predicted to be active in nucleus. Implicated in type 2 diabetes mellitus. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~388.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to UBE2E2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_152653.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 13 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 14 | 0 | 0 | 14 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_689866.1 | 5 | MANE Select | |
| Ensembl | ENSP00000379931.1 | 5 | MANE Select | |
| RefSeq | NP_001357154.1 | 5 | Standard | |
| RefSeq | NP_001357155.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Ubiquitin mediated proteolysis - Homo sapiens (human)
- role of parkin in ubiquitin-proteasomal pathway
- protein ubiquitylation
- Immune System
- Adaptive Immune System
Biological Process
- cellular response to DNA damage stimulus
- ISG15-protein conjugation
- protein K63-linked ubiquitination
- protein K48-linked ubiquitination
- protein K11-linked ubiquitination
Molecular Function
- ubiquitin-protein transferase activity
- protein binding
- ATP binding
- ISG15 transferase activity
- ubiquitin conjugating enzyme activity
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000396703
- Coding exons
- 5
- Length
- 388774
- Individuals with no LoFs
- 125383
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1
- Defined
- 125384
- p
- 0.00000399
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.29 | 44 | 112 | 0.393 | 0.00000587 | 1312 |
| Missense (PolyPhen) | 10 | 34.819 | 0.2872 | 418 | ||
| Synonymous | -0.841 | 46 | 39.3 | 1.17 | 0.00000220 | 377 |
| Loss of Function | 2.98 | 0 | 10.3 | 0.00 | 5.17e-7 | 130 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.0000088 | 0.0000088 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Catalyzes the ISGylation of influenza A virus NS1 protein. {ECO:0000269|PubMed:20061386, ECO:0000269|PubMed:20133869, ECO:0000269|PubMed:9371400}.;
Intolerance Scores
- LoFtool
- 0.152
- RVIS EVS
- -0.12
- RVIS percentile EVS
- 44.54
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.985
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Low | Low | Low |
| Cancer | Low | Low | Low |