HECW2

HECW2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2LFE
Identifiers
Aliases	HECW2 , NEDL2, HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2, NDHSAL
External IDs	OMIM: 617245 MGI: 2685817 HomoloGene: 66192 GeneCards: HECW2
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q32.3 Start 196,189,099 bp [1] End 196,593,684 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 C1.1 Start 53,846,035 bp [2] End 54,234,327 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 middle temporal gyrus visceral pleura upper lobe of lung upper lobe of left lung right lung Brodmann area 46 corpus callosum lower lobe of lung secondary oocyte Top expressed in epithelium of stomach substantia nigra medial geniculate nucleus lateral geniculate nucleus primary motor cortex habenula medial dorsal nucleus prefrontal cortex cerebellar vermis piriform cortex More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity ubiquitin-protein transferase activity protein binding ubiquitin protein ligase activity Cellular component mitotic spindle spindle cytoskeleton cytoplasm Biological process protein ubiquitination regulation of mitotic metaphase/anaphase transition proteasome-mediated ubiquitin-dependent protein catabolic process protein polyubiquitination ubiquitin-dependent protein catabolic process positive regulation of protein catabolic process regulation of dendrite morphogenesis negative regulation of sodium ion transmembrane transporter activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57520 329152 Ensembl ENSG00000138411 ENSMUSG00000042807 UniProt Q9P2P5 Q6I6G8 RefSeq (mRNA) NM_001304840 NM_020760 NM_001348768 NM_001001883 NM_172655 RefSeq (protein) NP_001291769 NP_065811 NP_001335697 NP_001001883 NP_766243 Location (UCSC) Chr 2: 196.19 – 196.59 Mb Chr 1: 53.85 – 54.23 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000138411 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000042807 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2" . Retrieved 2014-10-24.
6. 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.