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Details of COL4A2 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| COL4A2 | --- | P08572 | CO4A2_HUMAN | 1284
| ENSG00000134871
| Collagen alpha-2(IV) chain
Canstatin | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Porencephaly 2 (POREN2) [MIM:614483]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614483 |
Intracerebral hemorrhage (ICH) [MIM:614519]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. |
614519 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Col4a2 | Cg25C | --- | Sp-3Apcol |
