Variant ID | 26700 |
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Entrez Gene ID | 7336 |
Gene | UBE2V2 (GeneCards) |
Location | hg19 8:49093066-49093066
hg38 8:48180506-48180506 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000008.10:g.49093066 A>T (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 |
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EIGEN score | -0.4673 |
CADD Raw score (version 1.3) | -0.283733 (Deleterious) |
FATHMM raw prediction score | 0.09643 (Tolerated) |
Deleterious probability by DeFine | 0.4842 (Neutral) |
Entrez Gene ID | 7336 (NCBI Gene) |
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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 | 29217587.03 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |