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 Top expressed in corpus callosum brain visceral pleura heart right lung lung Brodmann area 23 left ventricle More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity ubiquitin-protein transferase activity GO:0001948 protein binding GO:1904264, GO:1904822, GO:0090622, GO:0090302 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]

Model organisms[]

Model organisms have been used in the study of HECW2 function. A conditional knockout mouse line called Hecw2^{tm1a(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute.^[6] Male and female animals underwent a standardized phenotypic screen^[7] to determine the effects of deletion.^{[8][9][10][11]} Additional screens performed: - In-depth immunological phenotyping^[12]

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.^[13]

References[]

Further reading[]

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