COL4A2 Gene Summary [Human]
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | COL4A2 |
| Official Name | collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203] |
| Ensembl ID | ENSG00000134871 |
| Bio databases IDs | |
| Aliases | collagen type IV alpha 2 chain, canstatin, collagen type IV alpha 2 |
| Synonyms | BSVD2, Collagen iv alpha2, collagen, type IV, alpha 2, collagen type IV alpha 2 chain, collagen, type IV, α 2, collagen type IV α 2 chain, ICH, POREN2, Procollagen iv alpha2, Type iv collagen alpha2 |
| 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 COL4A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular matrix structural constituent conferring tensile strength
- NC1 domain
- noncollagenous domain
- extracellular matrix structural constituent
- Collagen triple helix repeat (20 copies)
- C-terminal tandem repeated domain in type 4 procollagen
- protein binding
Pathways
Biological processes and signaling networks where the COL4A2 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
- acute myeloid leukemia
- Duchenne muscular dystrophy
- epithelial cancer
- rheumatoid arthritis
- hereditary disorder
- colorectal cancer
- Dupuytren contracture
- porencephaly type 2
- single suture craniosynostosis
- glioblastoma cancer
role in cell
- growth
- proliferation
- apoptosis
- cell death
- phosphorylation in
- migration
- transmembrane potential
- senescence
- structural integrity
- anoikis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cell surface
- endoplasmic reticulum lumen
- basal membrane
- extracellular matrix
- exosomes
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL4A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of angiogenesis
- cellular response to transforming growth factor beta stimulus
- angiogenesis
- transcription, DNA-dependent
- endodermal cell differentiation
- extracellular matrix organization
- response to activity
- collagen-activated tyrosine kinase receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- basement membrane
- extracellular vesicular exosome
- collagen type IV
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- extracellular matrix structural constituent conferring tensile strength
- extracellular matrix structural constituent
- binding, bridging