Protein-coding gene in the species Homo sapiens
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 is a protein that in humans is encoded by the HECW2 gene .[5]
Clinical significance Mutations in the HECW2 gene have been associated to epilepsy and intellectual disability . These mutations affect one copy of the HECW2 gene and are believed to change the function of the HECW2 protein.[6]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000138411 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042807 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Entrez Gene: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2" . Retrieved 2014-10-24 .^ Halvardson J, Zhao JJ, Zaghlool A, Wentzel C, Georgii-Hemming P, Månsson E, Ederth Sävmarker H, Brandberg G, Soussi Zander C, Thuresson AC, Feuk L (2016). "Mutations in HECW2 are associated with intellectual disability and epilepsy" . Journal of Medical Genetics . 53 (10): 697–704. doi :10.1136/jmedgenet-2016-103814 . PMC 5099177 PMID 27334371 .
Further reading
Miyazaki K, Ozaki T, Kato C, Hanamoto T, Fujita T, Irino S, Watanabe K, Nakagawa T, Nakagawara A (Aug 2003). "A novel HECT-type E3 ubiquitin ligase, NEDL2, stabilizes p73 and enhances its transcriptional activity". Biochemical and Biophysical Research Communications . 308 (1): 106–13. doi :10.1016/s0006-291x(03)01347-0 . PMID 12890487 . Cui Y, He S, Xing C, Lu K, Wang J, Xing G, Meng A, Jia S, He F, Zhang L (Jul 2011). "SCFFBXL¹⁵ regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1" . The EMBO Journal . 30 (13): 2675–89. doi :10.1038/emboj.2011.155 . PMC 3155294 PMID 21572392 .
