HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2)

2007-04-01  

Identity

HGNC
HERC2
LOCATION
15q11.2
LOCUSID
8924
ALIAS
D15F37S1,MRT38,SHEP1,jdf2,p528
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8924
MIM: 605837
HGNC: 4868
Ensembl: ENSG00000128731

Variants:

dbSNP: 8924
ClinVar: 8924
TCGA: ENSG00000128731
COSMIC: HERC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128731ENST00000261609O95714
ENSG00000128731ENST00000564734H3BRG9
ENSG00000128731ENST00000569772H3BUQ1
ENSG00000128731ENST00000650509A0A3B3IRP6

Expression (GTEx)

0
5
10
15
20
25
30
35
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
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214
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
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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
367212342023HERC2 promotes inflammation-driven cancer stemness and immune evasion in hepatocellular carcinoma by activating STAT3 pathway.5
370749242023EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole.7
374808512023Mechanism of orphan subunit recognition during assembly quality control.4
367212342023HERC2 promotes inflammation-driven cancer stemness and immune evasion in hepatocellular carcinoma by activating STAT3 pathway.5
370749242023EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole.7
374808512023Mechanism of orphan subunit recognition during assembly quality control.4
351186592022Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.1
354110942022The ZZ domain of HERC2 is a receptor of arginylated substrates.0
357013872022Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.4
362417442022HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress.3
351186592022Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.1
354110942022The ZZ domain of HERC2 is a receptor of arginylated substrates.0
357013872022Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.4
362417442022HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress.3
325718992021Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality.7

Citation

Dessen P

HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46802/meetings/deep-insight-explorer/humanGenome