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COL4A2
Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. Defects in COL4A2 are the cause of porencephaly type 2 (POREN2). POREN2 is a neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect in the development of the cerebral ventricles. Defects in COL4A2 are a cause of susceptibility to intracerebral hemorrhage (ICH). ICH is a pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. Belongs to the type IV collagen family. Note: This description may include information from UniProtKB.
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| Protein type: Extracellular matrix; Secreted; Secreted, signal peptide |
| Chromosomal Location of Human Ortholog: 8 A1.1|8 5.62 cM |
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Cellular Component:
basement membrane; collagen trimer; collagen type IV trimer; extracellular matrix; extracellular region; extracellular space
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Molecular Function:
extracellular matrix structural constituent; extracellular matrix structural constituent conferring tensile strength
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Biological Process:
angiogenesis; cellular response to transforming growth factor beta stimulus; collagen-activated tyrosine kinase receptor signaling pathway; extracellular matrix organization; negative regulation of angiogenesis; transcription, DNA-templated
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Reference #:
P08122
(UniProtKB)
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Alt. Names/Synonyms: AU019502; Canstatin; CO4A2; Col4a-2; Col4a2; Collagen alpha-2(IV) chain; collagen, type IV, alpha 2; MGC7371; OTTMUSP00000023606; procollagen, type IV, alpha 2
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Gene Symbols: Col4a2
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Molecular weight:
167,325 Da
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Basal Isoelectric point:
8.75
Predict pI for various phosphorylation states
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