HERC2
Summary: This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:605837 Ensembl IDEnsembl:ENSG00000128731 HGNC IDHGNC:HGNC:4868 PHARMGKB IDPA29243 Map Location15q13.1 | |||||
Gene Categories:
DNA REPAIRGO terms in HERC2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0004842 | ubiquitin-protein transferase activity |
| MF | NAS | GO:0005085 | guanyl-nucleotide exchange factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008270 | zinc ion binding |
| MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
| MF | IDA | GO:0032183 | SUMO binding |
Gene expression in normal tissue: HERC2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HERC2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04120 | Ubiquitin mediated proteolysis - Homo sapiens (human) |
| wikipathways | WP3998 | Prader-Willi and Angelman Syndrome |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-2990846 | SUMOylation |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HERC2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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