Details for Gene SHANK3

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

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