GENE NAME | CA2 |
CHROMOSOME | 8 |
ENSEMBL ID | ENSG00000104267 |
ENTREZ ID | 760 |
UNIPROT ACCESSION NUMBER | P00918 |
GO MOLECULAR FUNCTION | lyase activity; metal ion binding; carbonate dehydratase activity |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa00910; hsa04976; R-HSA-1237044; hsa04964; hsa04972; R-HSA-1247673; R-HSA-382551; R-HSA-1430728; hsa04971; R-HSA-1480926; hsa01100; R-HSA-1475029; hsa04966 |
1 combination linked to CA2 | OLI264 |
1 variant linked to CA2 | CA2:c.232+1G>A, |
1 disease linked to CA2 | Osteopetrosis,Mental retardation,Short stature,Spastic paraparesis |