PLOD2 Gene Summary [Human]
The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PLOD2 |
| Official Name | procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 [Source:HGNC Symbol;Acc:HGNC:9082] |
| Ensembl ID | ENSG00000152952 |
| Bio databases IDs | |
| Aliases | procollagen-lysine,2-oxoglutarate 5-dioxygenase 2, lysyl hydroxlase 2, telopeptidyl lysyl hydroxylase, procollagen lysyl hydroxylase 2 |
| Synonyms | BRKS2, D530025C14Rik, LH2, Lysyl hydroxylase 2, procollagen-lysine,2-oxoglutarate 5-dioxygenase 2, TLH |
| 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 PLOD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GT_LH
- procollagen-lysine 5-dioxygenase
- enzyme
- 2OG-Fe(II) oxygenase superfamily
- Prolyl 4-hydroxylase alpha subunit homologues
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- hepatocellular carcinoma
- colorectal cancer
- metastatic colorectal cancer
- non-small cell lung cancer
- epithelial cancer
- Bruck syndrome 2
- metastasis
- Bruck syndrome
- organismal death
role in cell
- cell death
- invasion by
- migration
- proliferation
- tumorsphere formation by
- phosphorylation in
- degradation in
- deposition in
- replicative senescence
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
- pH resistant lipid raft fraction
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- rough endoplasmatic reticulum
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PLOD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein modification process
- hydroxylysine biosynthetic process
- response to hypoxia
- protein O-linked glycosylation
- peptidyl-lysine hydroxylation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- rough endoplasmic reticulum membrane
- extracellular vesicular exosome
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- L-ascorbic acid binding
- iron ion binding
- procollagen-lysine 5-dioxygenase activity
- procollagen glucosyltransferase activity