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

2007-04-01  

Identity

HGNC
HECW2
LOCATION
2q32.3
LOCUSID
57520
ALIAS
NDHSAL,NEDL2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
343213242022Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.3
347671552022Circ_0057583 facilitates brain microvascular endothelial cell injury through modulating miR-204-5p/NR4A1 axis.2
343213242022Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.3
347671552022Circ_0057583 facilitates brain microvascular endothelial cell injury through modulating miR-204-5p/NR4A1 axis.2
332058962021Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a.1
340470142021HECW2-related disorder in four Japanese patients.4
343278202021A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.1
332058962021Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a.1
340470142021HECW2-related disorder in four Japanese patients.4
343278202021A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.1
297537632018E3 ubiquitin ligase HECW2 targets PCNA and lamin B1.15
302085142018E3 ubiquitin ligase HECW2 mediates the proteasomal degradation of HP1 isoforms.5
297537632018E3 ubiquitin ligase HECW2 targets PCNA and lamin B1.15
302085142018E3 ubiquitin ligase HECW2 mediates the proteasomal degradation of HP1 isoforms.5
273897792017De 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-(hect-c2-and-ww-domain-containing-e3-ubiquitin-protein-ligase-2)