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
Gene location (Human)
Chr.	X chromosome (human)
End	41,923,554 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	13,717,606 bp
RNA expression pattern
	Top expressed in
	hair follicle; ; duodenum; ; jejunal mucosa; ; pancreatic ductal cell; ; optic nerve; ; Achilles tendon; ; ganglionic eminence; ; superior vestibular nucleus; ; rectum; ; corpus callosum;
	Top expressed in
	condyle; ; conjunctival fornix; ; fossa; ; trigeminal ganglion; ; Paneth cell; ; ganglionic eminence; ; substantia nigra; ; secondary oocyte; ; ciliary body; ; calvaria;
	More reference expression data
	; ;
	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
	8573
	12361
	ENSG00000147044
	ENSMUSG00000031012
	O14936
	O70589
	NM_001126054; NM_001126055; NM_003688; NM_001367721
	NM_001284503; NM_001284504; NM_001284505; NM_009806
	NP_001119526; NP_001119527; NP_003679; NP_001354650
	NP_001271432; NP_001271433; NP_001271434; NP_033936
	Wikidata
View/Edit Human	View/Edit Mouse

Peripheral plasma membrane protein CASK is a protein that in humans is encoded by the CASK gene. 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.

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