GENE NAME | CRB2 |
CHROMOSOME | 9 |
ENSEMBL ID | ENSG00000148204 |
ENTREZ ID | 286204 |
UNIPROT ACCESSION NUMBER | Q5IJ48 |
GO MOLECULAR FUNCTION | aspartic-type endopeptidase inhibitor activity; calcium ion binding; protein-containing complex binding; protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04390 |
1 combination linked to CRB2 | OLI922 |
1 variant linked to CRB2 | CRB2:c.3089_3104dup, p.Gly1036fs |
1 disease linked to CRB2 | Transposition of the great arteries |