HERC2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | HERC2 |
| Official Name | HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:HGNC:4868] |
| Ensembl ID | ENSG00000128731 |
| Bio databases IDs | |
| Aliases | HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
| Synonyms | D15F32S1h, D15F37S1, D7H15F32S1, D7H15F37S1, HECT and RLD domain containing E3 ubiquitin protein ligase 2, jdf2, LOC101929832, mKIAA0393, MRT38, p528, rjs, SHEP1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HERC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- UBA domain-like superfamily
- ZZ
- ubiquitin protein ligase binding
- Regulator of chromosome condensation (RCC1) repeat
- Mib_herc2
- ubiquitin protein ligase activity
- chromosome condensation 1-like domain
- Mind bomb SH3 repeat domain
- Domain Homologous to E6-AP Carboxyl Terminus with
- APC10-like
- enzyme
- Mouse development and cellular proliferation protein Cullin-7
- protein binding
- FBXL5 binding domain
- ring like zinc finger domain
- CPH domain
- HECTc
- Cytochrome b5-like Heme/Steroid binding domain
Pathways
Biological processes and signaling networks where the HERC2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- osteoarthritis
- organismal death
- actinic keratosis
- sunburn
- autosomal recessive mental retardation type 38
- skin cancer
- plasma cell myeloma
- cutaneous melanoma
- cutaneous melanoma cancer
role in cell
- binding in
- expression in
- phosphorylation in
- growth
- cell cycle progression
- differentiation
- DNA damage response
- progression
- ubiquitination in
- polyubiquitination in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Plasma Membrane
- cytosol
- mitochondrial inner membrane
- nuclear foci
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HERC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- proteasomal ubiquitin-dependent protein catabolic process
- spermatogenesis
- response to DNA damage stimulus
- intracellular protein transport
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- centriole
- membrane
- cytosol
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- SUMO binding
- zinc ion binding
- protein binding
- ubiquitin protein ligase binding
- guanyl-nucleotide exchange factor activity