UBE2V2
ubiquitin conjugating enzyme E2 V2, the group of Ubiquitin conjugating enzymes E2
Basic information
Region (hg38): 8:48008415-48064708
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2V2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 3 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 3 | 0 | 0 |
Variants in UBE2V2
This is a list of pathogenic ClinVar variants found in the UBE2V2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-48043056-C-T | not specified | Uncertain significance (Jan 23, 2024) | ||
| 8-48049916-C-T | not specified | Uncertain significance (Feb 06, 2024) | ||
| 8-48060701-C-T | not specified | Uncertain significance (Sep 30, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| UBE2V2 | protein_coding | protein_coding | ENST00000523111 | 4 | 56309 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0335 | 0.833 | 124870 | 0 | 13 | 124883 | 0.0000520 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.33 | 45 | 78.2 | 0.576 | 0.00000420 | 943 |
| Missense in Polyphen | 6 | 15.675 | 0.38278 | 224 | ||
| Synonymous | -0.180 | 27 | 25.8 | 1.05 | 0.00000147 | 265 |
| Loss of Function | 1.19 | 3 | 6.19 | 0.485 | 2.60e-7 | 89 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000648 | 0.0000645 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000564 | 0.0000552 |
| Finnish | 0.0000465 | 0.0000464 |
| European (Non-Finnish) | 0.0000654 | 0.0000618 |
| Middle Eastern | 0.0000564 | 0.0000552 |
| South Asian | 0.000105 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Has no ubiquitin ligase activity on its own. The UBE2V2/UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through 'Lys-63'. This type of poly-ubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. {ECO:0000269|PubMed:10089880, ECO:0000269|PubMed:14562038, ECO:0000269|PubMed:20061386, ECO:0000269|PubMed:9705497}.;
- Pathway
- HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA);DNA Repair;Nonhomologous End-Joining (NHEJ);DNA Double-Strand Break Repair;Homology Directed Repair;Post-translational protein modification;protein ubiquitylation;Metabolism of proteins;G2/M DNA damage checkpoint;G2/M Checkpoints;Cell Cycle Checkpoints;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;Protein ubiquitination;Cell Cycle;Formation of Incision Complex in GG-NER;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;DNA Double Strand Break Response;Global Genome Nucleotide Excision Repair (GG-NER);E3 ubiquitin ligases ubiquitinate target proteins;Processing of DNA double-strand break ends;Nucleotide Excision Repair
(Consensus)
Recessive Scores
- pRec
- 0.172
Intolerance Scores
- loftool
- 0.690
- rvis_EVS
- 0.06
- rvis_percentile_EVS
- 58
Haploinsufficiency Scores
- pHI
- 0.345
- hipred
- N
- hipred_score
- 0.355
- ghis
- 0.699
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.973
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Low | Low | Low |
| Cancer | Low | Low | Low |
Mouse Genome Informatics
- Gene name
- Ube2v2
- Phenotype
Gene ontology
- Biological process
- protein polyubiquitination;DNA double-strand break processing;regulation of DNA repair;postreplication repair;double-strand break repair via nonhomologous end joining;cell population proliferation;positive regulation of neuron projection development;protein ubiquitination;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;error-free postreplication DNA repair;negative regulation of neuron apoptotic process;positive regulation of DNA repair;positive regulation of synapse assembly;protein K63-linked ubiquitination
- Cellular component
- nucleus;nucleoplasm;cytoplasm;UBC13-MMS2 complex;extracellular exosome
- Molecular function
- protein binding;ubiquitin conjugating enzyme activity