CASK, Official Symbol CASKprovided by HGNC Official Full Name calcium/calmodulin dependent serine protein kinaseprovided by HGNC Primary source HGNC:HGNC:1497 See related Ensembl:ENSG00000147044 MIM:300172; AllianceGenome:HGNC:1497 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMG; FGS4; LIN2; TNRC8; hCASK; CAGH39; CAMGUK; MICPCH; MRXSNA Summary This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in duodenum (RPKM 8.0), small intestine (RPKM 7.8) and 25 other tissues See more Orthologs mouse all