HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2)

2007-04-01  

Identity

HGNC
LOCATION
2q32.3
LOCUSID
ALIAS
NDHSAL,NEDL2
FUSION GENES

Other Information

Locus ID:

NCBI: 57520
MIM: 617245
HGNC: 29853
Ensembl: ENSG00000138411

Variants:

dbSNP: 57520
ClinVar: 57520
TCGA: ENSG00000138411
COSMIC: HECW2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138411ENST00000260983Q9P2P5
ENSG00000138411ENST00000427457C9JHL2
ENSG00000138411ENST00000644030A0A2R8Y6F3
ENSG00000138411ENST00000644256Q9P2P5
ENSG00000138411ENST00000644421A0A2R8YE75
ENSG00000138411ENST00000644978Q9P2P5
ENSG00000138411ENST00000647236Q9P2P5

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
251564412015Novel functions and targets of miR-944 in human cervical cancer cells.20
273343712016Mutations in HECW2 are associated with intellectual disability and epilepsy.12
274980872016The endothelial E3 ligase HECW2 promotes endothelial cell junctions by increasing AMOTL1 protein stability via K63-linked ubiquitination.12
241633702013The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition.8
273897792017De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.7
297537632018E3 ubiquitin ligase HECW2 targets PCNA and lamin B1.6
302085142018E3 ubiquitin ligase HECW2 mediates the proteasomal degradation of HP1 isoforms.2

Citation

Dessen P

HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47274/hecw2