GENE NAME | SHANK3 |
CHROMOSOME | 22 |
ENSEMBL ID | ENSG00000251322 |
ENTREZ ID | 85358 |
UNIPROT ACCESSION NUMBER | A0A0U1RQS4 |
GO MOLECULAR FUNCTION | ionotropic glutamate receptor binding; protein C-terminus binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-6794361; R-HSA-8853659; R-HSA-1266738; R-HSA-6794362; R-HSA-422475; R-HSA-9675108; R-HSA-112316 |
3 combinations linked to SHANK3 | OLI491; OLI495; OLI476 |
4 variants linked to SHANK3 | SHANK3:; SHANK3:; SHANK3:; SHANK3: |
1 disease linked to SHANK3 | Rare pervasive developmental disorder |