Identity
HGNC
LOCATION
15q11.2
LOCUSID
ALIAS
D15F37S1,MRT38,SHEP1,jdf2,p528
FUSION GENES
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: 8924
MIM: 605837
HGNC: 4868
Ensembl: ENSG00000128731
Variants:
dbSNP: 8924
ClinVar: 8924
TCGA: ENSG00000128731
COSMIC: HERC2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000128731 | ENST00000261609 | O95714 |
| ENSG00000128731 | ENST00000564734 | H3BRG9 |
| ENSG00000128731 | ENST00000569772 | H3BUQ1 |
| ENSG00000128731 | ENST00000650509 | A0A3B3IRP6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36721234 | 2023 | HERC2 promotes inflammation-driven cancer stemness and immune evasion in hepatocellular carcinoma by activating STAT3 pathway. | 5 |
| 37074924 | 2023 | EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole. | 7 |
| 37480851 | 2023 | Mechanism of orphan subunit recognition during assembly quality control. | 4 |
| 36721234 | 2023 | HERC2 promotes inflammation-driven cancer stemness and immune evasion in hepatocellular carcinoma by activating STAT3 pathway. | 5 |
| 37074924 | 2023 | EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole. | 7 |
| 37480851 | 2023 | Mechanism of orphan subunit recognition during assembly quality control. | 4 |
| 35118659 | 2022 | Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing. | 1 |
| 35411094 | 2022 | The ZZ domain of HERC2 is a receptor of arginylated substrates. | 0 |
| 35701387 | 2022 | Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma. | 4 |
| 36241744 | 2022 | HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress. | 3 |
| 35118659 | 2022 | Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing. | 1 |
| 35411094 | 2022 | The ZZ domain of HERC2 is a receptor of arginylated substrates. | 0 |
| 35701387 | 2022 | Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma. | 4 |
| 36241744 | 2022 | HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress. | 3 |
| 32571899 | 2021 | Novel 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/herc2
