| Variant ID | 11650 |
|---|---|
| Entrez Gene ID | 7336 |
| Gene | UBE2V2 (GeneCards) |
| Location | hg19 8:49120829-49120829
hg38 8:48208269-48208269 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.49120829 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2378 |
| CADD Raw score (version 1.3) | -0.302196 (Deleterious) |
| FATHMM raw prediction score | 0.13739 (Tolerated) |
| Deleterious probability by DeFine | 0.0873 (Neutral) |
| Entrez Gene ID | 7336 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UBE2V2 (GeneCards) |
| Number of variants in UBE2V2 in this database | 3 (view all the variants) |
| Full name | ubiquitin conjugating enzyme E2 V2 |
| Band | 8q11.21 |
| Other IDs | Vega: OTTHUMG00000164206 OMIM: 603001 HGNC: HGNC:12495 Ensembl: ENSG00000169139 |
| Other names | MMS2, UEV2, EDPF1, UEV-2, DDVIT1, EDAF-1, EDPF-1, DDVit-1 |
| Summary | Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |