Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57520
MIM: 617245
HGNC: 29853
Ensembl: ENSG00000138411
Variants:
dbSNP: 57520
ClinVar: 57520
TCGA: ENSG00000138411
COSMIC: HECW2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34321324 | 2022 | Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. | 3 |
| 34767155 | 2022 | Circ_0057583 facilitates brain microvascular endothelial cell injury through modulating miR-204-5p/NR4A1 axis. | 2 |
| 34321324 | 2022 | Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. | 3 |
| 34767155 | 2022 | Circ_0057583 facilitates brain microvascular endothelial cell injury through modulating miR-204-5p/NR4A1 axis. | 2 |
| 33205896 | 2021 | Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a. | 1 |
| 34047014 | 2021 | HECW2-related disorder in four Japanese patients. | 4 |
| 34327820 | 2021 | A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns. | 1 |
| 33205896 | 2021 | Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a. | 1 |
| 34047014 | 2021 | HECW2-related disorder in four Japanese patients. | 4 |
| 34327820 | 2021 | A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns. | 1 |
| 29753763 | 2018 | E3 ubiquitin ligase HECW2 targets PCNA and lamin B1. | 15 |
| 30208514 | 2018 | E3 ubiquitin ligase HECW2 mediates the proteasomal degradation of HP1 isoforms. | 5 |
| 29753763 | 2018 | E3 ubiquitin ligase HECW2 targets PCNA and lamin B1. | 15 |
| 30208514 | 2018 | E3 ubiquitin ligase HECW2 mediates the proteasomal degradation of HP1 isoforms. | 5 |
| 27389779 | 2017 | De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. | 24 |
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
