HECW2

HECW2
Identifiers
Aliases	HECW2, NEDL2, HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2, NDHSAL
External IDs	OMIM: 617245; MGI: 2685817; GeneCards: HECW2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2LFE
Enzyme activity
Gene location (Human)
Chr.	Chromosome 2 (human)
End	196,593,684 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	54,234,327 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; Brodmann area 23; ; middle temporal gyrus; ; visceral pleura; ; testicle; ; upper lobe of lung; ; upper lobe of left lung; ; right lung; ; primary visual cortex; ; Brodmann area 46;
	Top expressed in
	epithelium of stomach; ; lumbar subsegment of spinal cord; ; substantia nigra; ; medial geniculate nucleus; ; lateral geniculate nucleus; ; primary motor cortex; ; habenula; ; medial dorsal nucleus; ; prefrontal cortex; ; lobe of cerebellum;
	More reference expression data
	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
Databases	NCBI: entry; OMA: entry
	57520
	329152
	ENSG00000138411
	ENSMUSG00000042807
	Q9P2P5
	Q6I6G8
	NM_001304840; NM_020760; NM_001348768
	NM_001001883; NM_172655
	NP_001291769; NP_065811; NP_001335697
	NP_001001883; NP_766243
	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

^ ^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.

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.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000138411 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2". Retrieved 2014-10-24.

[pmid27334371-6] 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.

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HECW2

Clinical significance

References

Further reading

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