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

2007-04-01  

Identity

HGNC
LOCATION
15q11.2
LOCUSID
ALIAS
D15F37S1,MRT38,SHEP1,jdf2,p528
FUSION GENES

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

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

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/js/lib/gene-fusions/css/template-card.css