Recombinant Human E3 ubiquitin-protein ligase HERC2 (HERC2), partial

1. The results of this study are the first to show an association between HERC2 variants and time to first cSCC post-transplant. PMID: 28456133
2. By downregulating acetylated LKB1 protein via HERC2, SIRT1 fine-tunes the crosstalk between endothelial and vascular smooth muscle cells to prevent adverse arterial remodeling and maintain vascular homeostasis PMID: 27259994
3. Evaluated the association of seven OCA2-HERC2 SNPs and haplotypes with pigmentation characteristics (eye, skin, hair and freckles) in the highly admixed and phenotypically heterogeneous Brazilian population. Such SNPs and haplotypes could be deemed as good predictors for the presence of freckles and for skin, eye and hair pigmentation in the Brazilian population. PMID: 28081795
4. SNP rs12913832 in HERC2 was found to be strongly associated with blue eye colour. SNP associations with hair and skin colour were weaker and genotypes less predictive. PMID: 26286644
5. Data show that histone H2A deubiquitinase USP16 interacts with E3 ubiquitin-protein ligase HERC2, negatively regulates DNA damage-induced ubiquitin foci formation, and is required for termination of the ubiquitin signal. PMID: 25305019
6. Results identify HERC2 as a regulator of p53 signaling. PMID: 24722987
7. results thus suggest that HERC2 regulates the basal turnover of FBXL5, and that this ubiquitin-dependent degradation pathway contributes to the control of mammalian iron metabolism PMID: 24778179
8. identified HERC2, a HECT domain-containing E3 ligase, as being responsible for polyubiquitination of USP33. PMID: 24855649
9. given a particular HERC2/OCA2 genotype, males are more prone to have lighter eye colors than predicted by their genotypes, while females tend to have darker eye colors than predicted PMID: 23601698
10. Studied an autosomal-recessive neurodevelopmental disorder with some phenotypic similarities to Angelman syndrome, found among the Old Order Amish. Our molecular investigation identified a mutation in HERC2 associated with the disease phenotype. PMID: 23243086
11. Pathogenic changes in HERC2 are associated with nonsyndromic intellectual disability, autism, and gait disturbance. PMID: 23065719
12. the NEURL4-HERC2 complex participates in the ubiquitin-dependent regulation of centrosome architecture PMID: 22261722
13. HERC2 rs12913832 region functions as an enhancer regulating OCA2 transcription. PMID: 22234890
14. In response to double-strand breaks, both HERC2 and RNF168 were specifically modified with SUMO1 at double-strand break sites in a manner dependent on the SUMO E3 ligase PIAS4. PMID: 22508508
15. These results suggest that HERC2 regulates DNA replication progression and origin firing by facilitating MCM2 phosphorylation. PMID: 21775519
16. ). Sequence variations in rs11636232 and rs7170852 in HERC2, rs1800407 in OCA2 and rs16891982 in MATP showed additional association with eye colours PMID: 20457063
17. role in pigmentation characteristics in Spanish population PMID: 20629734
18. Findings identify a function for HERC2 in regulating BRCA1 stability in opposition to BARD1. The HERC2 expression in breast epithelial cells and breast carcinomas suggests that this mechanism may play a role in breast carcinogenesis. PMID: 20631078
19. Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression PMID: 18172690
20. We suggest that genetic variants regulating expression of the OCA2 gene exist in the HERC2 gene or, alternatively, within the 11.7 kb of sequence between OCA2 and HERC2, and that most iris color variation in Europeans is explained by those two genes. PMID: 18252221
21. A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. PMID: 18252222
22. Single nucleotide polymorphism in HERC2 gene is associated with ulcerative colitis PMID: 18438405
23. OCA2 and HERC2 have roles in hair color in Australian adolescents PMID: 18528436
24. Results confirmed the association of HERC2 rs12913832 with eye colour and showed that this SNP is also significantly associated with skin and hair colouration. PMID: 19208107
25. Two single nucleotide polymorphisms found in intron 86 (rs12913832) and the 3' UTR region (rs1129038) of the HERC2 gene. PMID: 19472299

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HGNC: 4868

OMIM: 227220

KEGG: hsa:8924

STRING: 9606.ENSP00000261609

UniGene: Hs.434890