Details for Gene CA2

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

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