Identity
HGNC
LOCATION
12q24.13
LOCUSID
ALIAS
C12ord51,C12orf51,HEEL,POTAGE
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: 283450
HGNC: 26611
Ensembl: ENSG00000173064
Variants:
dbSNP: 283450
ClinVar: 283450
TCGA: ENSG00000173064
COSMIC: HECTD4
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36401616 | 2023 | Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. | 2 |
| 36401616 | 2023 | Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. | 2 |
| 34828409 | 2021 | A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences. | 3 |
| 34828409 | 2021 | A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences. | 3 |
| 28212632 | 2017 | Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population. | 0 |
| 28212632 | 2017 | Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population. | 0 |
| 25661349 | 2015 | Genetic variation in C12orf51 is associated with prognosis of intestinal-type gastric cancer in a Chinese population. | 6 |
| 26675016 | 2015 | A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans. | 7 |
| 25661349 | 2015 | Genetic variation in C12orf51 is associated with prognosis of intestinal-type gastric cancer in a Chinese population. | 6 |
| 26675016 | 2015 | A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans. | 7 |
| 23575436 | 2013 | New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population. | 20 |
| 23575436 | 2013 | New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population. | 20 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
HECTD4 (HECT domain E3 ubiquitin protein ligase 4)
Atlas Genet Cytogenet Oncol Haematol. 2015-10-01
Online version: http://atlasgeneticsoncology.org/gene/55498/hectd4-(hect-domain-e3-ubiquitin-protein-ligase-4)
