ID:HECD2_HUMAN DESCRIPTION: RecName: Full=Probable E3 ubiquitin-protein ligase HECTD2; EC=6.3.2.-; AltName: Full=HECT domain-containing protein 2; FUNCTION: Probable E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity). PATHWAY: Protein modification; protein ubiquitination. SIMILARITY: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): HECTD2 CDC HuGE Published Literature: HECTD2 Positive Disease Associations: Echocardiography Related Studies:
Echocardiography Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903301]
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
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 Q5U5R9
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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.
BC071762 - Homo sapiens cDNA clone IMAGE:6592823, **** WARNING: chimeric clone ****. AK295723 - Homo sapiens cDNA FLJ61276 complete cds, highly similar to Probable E3 ubiquitin-protein ligase HECTD2. AK094625 - Homo sapiens cDNA FLJ37306 fis, clone BRAMY2016325. BC040187 - Homo sapiens HECT domain containing 2, mRNA (cDNA clone MGC:42202 IMAGE:4811444), complete cds. EU832472 - Synthetic construct Homo sapiens clone HAIB:100067501; DKFZo008C1029 HECT domain containing 2 protein (HECTD2) gene, encodes complete protein. EU832551 - Synthetic construct Homo sapiens clone HAIB:100067580; DKFZo004C1030 HECT domain containing 2 protein (HECTD2) gene, encodes complete protein. BX537856 - Homo sapiens mRNA; cDNA DKFZp779P1263 (from clone DKFZp779P1263). JD418671 - Sequence 399695 from Patent EP1572962. JD023502 - Sequence 4526 from Patent EP1572962. JD030249 - Sequence 11273 from Patent EP1572962. AK122629 - Homo sapiens cDNA FLJ16050 fis, clone HHDPC2003820, highly similar to Probable E3 ubiquitin-protein ligase HECTD2. AL832073 - Homo sapiens mRNA; cDNA DKFZp313O1018 (from clone DKFZp313O1018). BC036487 - Homo sapiens cDNA clone IMAGE:5261502, with apparent retained intron. AL713675 - Homo sapiens mRNA; cDNA DKFZp761D0614 (from clone DKFZp761D0614). AF131793 - Homo sapiens clone 25142 mRNA sequence. JD508003 - Sequence 489027 from Patent EP1572962. JD566903 - Sequence 547927 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q5U5R9 (Reactome details) participates in the following event(s):
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex R-HSA-983147 Release of E3 from polyubiquitinated substrate R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2 R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation R-HSA-983169 Class I MHC mediated antigen processing & presentation R-HSA-1280218 Adaptive Immune System R-HSA-168256 Immune System