Human Gene UBE2G2 (uc002zfy.3) Description and Page Index
Description: Homo sapiens ubiquitin-conjugating enzyme E2G 2 (UBE2G2), transcript variant 1, mRNA. RefSeq Summary (NM_003343): 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, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. Transcript (Including UTRs) Position: hg19 chr21:46,188,495-46,221,751 Size: 33,257 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr21:46,191,292-46,221,663 Size: 30,372 Coding Exon Count: 6
ID:UB2G2_HUMAN DESCRIPTION: RecName: Full=Ubiquitin-conjugating enzyme E2 G2; EC=18.104.22.168; AltName: Full=Ubiquitin carrier protein G2; AltName: Full=Ubiquitin-protein ligase G2; FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 48'-linked polyubiquitination. Involved in endoplasmic reticulum- associated degradation (ERAD). CATALYTIC ACTIVITY: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine. PATHWAY: Protein modification; protein ubiquitination. SIMILARITY: Belongs to the ubiquitin-conjugating enzyme family.
Genetic Association Studies of Complex Diseases and Disorders
Hip Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics.
The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P60604
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006511 ubiquitin-dependent protein catabolic process GO:0016567 protein ubiquitination GO:0018279 protein N-linked glycosylation via asparagine GO:0030433 ER-associated ubiquitin-dependent protein catabolic process GO:0035458 cellular response to interferon-beta GO:0044257 cellular protein catabolic process GO:0070936 protein K48-linked ubiquitination GO:1904153 negative regulation of retrograde protein transport, ER to cytosol