Col4a2 Gene Summary [Mouse]
This gene encodes the alpha-2 subunit of the type IV collagens, an essential component of basement membranes. The encoded protein forms a triple helical heterotrimer comprised of alpha-1 and alpha-2 subunits that assembles into a type IV collagen network. Canstatin, a peptide derived fom the C-terminus of the collagen chain, is a matrikine that has been shown to inhibit angiogenesis. Homozygous knockout mice for this gene exhibit impaired basement membrane integrity and embryonic lethality. This gene shares a bi-directional promoter with a related gene on chromosome 8. [provided by RefSeq, Nov 2015]
Details
| Type | Protein Coding |
| Official Symbol | Col4a2 |
| Official Name | collagen, type IV, alpha 2 [Source:MGI Symbol;Acc:MGI:88455] |
| Ensembl ID | ENSMUSG00000031503 |
| Bio databases IDs | |
| Aliases | 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 | Mouse, Mus musculus |
| 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 mouse 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 mouse 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
phenotypes
- decreased circulating fructosamine level
- decreased circulating iron level
- decreased circulating serum albumin level
- decreased circulating total protein level
- preweaning lethality complete penetrance
- abnormal atrioventricular cushion morphology
- abnormal autopod morphology
- abnormal brain morphology
- abnormal cervical rib
- abnormal cranial blood vasculature morphology
- abnormal ductus venosus valve morphology
- abnormal eye anterior chamber morphology
- abnormal eye muscle morphology
- abnormal forebrain morphology
- abnormal hepatic vein morphology
- abnormal hindbrain morphology
- abnormal inferior vena cava morphology
- abnormal interatrial septum morphology
- abnormal intestine placement
- abnormal left lung morphology
- abnormal lens epithelium morphology
- abnormal lens morphology
- abnormal oculomotor nerve morphology
- abnormal optic cup morphology
- abnormal optic stalk morphology
- abnormal outer ear morphology
- abnormal rib morphology
- abnormal right lung morphology
- abnormal tail morphology
- abnormal testis morphology
- abnormal thymus topology
- abnormal thyroid gland isthmus morphology
- abnormal thyroid gland morphology
- abnormal trigeminal ganglion morphology
- abnormal ventral pancreas morphology
- abnormal vertebral artery topology
- absent costovertebral joint
- absent ductus venosus valve
- absent thyroid gland isthmus
- additional anastomosis between intracranial vertebral arteries
- anterior polar cataracts
- aorta stenosis
- aphakia
- arteriovenous malformation
- bicuspid aortic valve
- blood in lymph vessels
- buphthalmos
- cataract
- coloboma
- corneal-lenticular stalk
- decreased erythrocyte cell number
- decreased hematocrit
- decreased hemoglobin content
- double outlet right ventricle
- embryo cyst
- embryo tumor
- fusion of vertebral arches
- hemorrhage
- heterochrony
- increased cornea thickness
- lethality throughout fetal growth and development complete penetrance
- microphthalmia
- muscular ventricular septal defect
- postnatal lethality complete penetrance
- prenatal lethality incomplete penetrance
- retroesophageal right subclavian artery
- retrolental blood
- small thymus
- small thyroid gland
- subcutaneous edema
- thoracoschisis
- total cataracts
- trigeminal neuroma
- vacuolated lens
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 mouse 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