CASK

CASK
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1KGD, 1KWA, 1ZL8, 3C0G, 3C0H, 3C0I, 3MFR, 3MFS, 3MFT, 3MFU, 3TAC
Identifiers
Aliases	CASK, CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8, calcium/calmodulin-dependent serine protein kinase (MAGUK family), calcium/calmodulin dependent serine protein kinase, hCASK
External IDs	OMIM: 300172; MGI: 1309489; HomoloGene: 2736; GeneCards: CASK; OMA:CASK - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.4 Start 41,514,934 bp[1] End 41,923,554 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A1.1|X 8.43 cM Start 13,383,319 bp[2] End 13,717,606 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell hair follicle duodenum jejunal mucosa pancreatic ductal cell optic nerve Achilles tendon ganglionic eminence ventricular zone superior vestibular nucleus Top expressed in genital tubercle Ileal epithelium tail of embryo Rostral migratory stream condyle conjunctival fornix fossa trigeminal ganglion Paneth cell ganglionic eminence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding protein kinase activity guanylate kinase activity calmodulin binding kinase activity protein serine/threonine kinase activity neurexin family protein binding protein binding ATP binding Cellular component cytoplasm nuclear lamina vesicle cytosol membrane focal adhesion nuclear matrix plasma membrane synapse basolateral plasma membrane nucleolus ciliary membrane actin cytoskeleton presynaptic membrane nucleus basement membrane cell-cell junction Schaffer collateral - CA1 synapse Biological process negative regulation of cellular response to growth factor stimulus negative regulation of keratinocyte proliferation phosphorylation calcium ion import negative regulation of cell-matrix adhesion protein phosphorylation positive regulation of calcium ion import cell adhesion negative regulation of wound healing neurotransmitter secretion positive regulation of transcription by RNA polymerase II GMP metabolic process GDP metabolic process regulation of synaptic vesicle exocytosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8573 12361 Ensembl ENSG00000147044 ENSMUSG00000031012 UniProt O14936 O70589 RefSeq (mRNA) NM_001126054 NM_001126055 NM_003688 NM_001367721 NM_001284503 NM_001284504 NM_001284505 NM_009806 RefSeq (protein) NP_001119526 NP_001119527 NP_003679 NP_001354650 NP_001271432 NP_001271433 NP_001271434 NP_033936 Location (UCSC) Chr X: 41.51 – 41.92 Mb Chr X: 13.38 – 13.72 Mb PubMed search [3] [4]
Wikidata
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Peripheral plasma membrane protein CASK is a protein that in humans is encoded by the CASK gene.^[5][6] This gene is also known by several other names: CMG 2 (CAMGUK protein 2), calcium/calmodulin-dependent serine protein kinase 3 and membrane-associated guanylate kinase 2. CASK gene mutations are the cause of XL-ID with or without nystagmus and MICPCH, an X-linked neurological disorder.