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CASK

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…

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2.7.11.1
Aliases
CASK, CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8, calcium/calmodulin-dependent serine protein kinase (MAGUK family), calcium/calmodulin dependent serine protein kina…
Available structures
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes1KGD, 1KWA, 1ZL8, 3C0G, 3C0H, 3C0I, 3MFR, 3MFS, 3MFT, 3MFU, 3TAC
Band
Xp11.4 · X A1.1|X 8.43 cM
Bgee
buccal mucosa cell · hair follicle · duodenum · jejunal mucosa · pancreatic ductal cell
BioGPS
More reference expression data

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Overview

  • Protein
  • Gene
  • MICPCH Mental retardation and microcephaly with pontine and cerebellar hypoplasia

Gene

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Map overview Semantic statistics

CASK

Nodes33
Edges32
Triples133
Avg. degree1.94
Density0.060606
Components1

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CASK

Top relations

Gene ontology · 42
CASK → actin cytoskeleton, ATP binding, basement membrane, basolateral plasma membrane, calcium ion import, calmodulin binding, cell adhesion, cell-cell junction, ciliary membrane, cytoplasm, cytosol, focal adhesion, GDP metabolic process, GMP metabolic process, guanylate kinase activity, kinase activity, membrane, negative regulation of cell-matrix adhesion, negative regulation of cellular response to growth factor stimulus, negative regulation of keratinocyte proliferation
Bgee · 19
CASK → Achilles tendon, buccal mucosa cell, condyle, conjunctival fornix, duodenum, fossa, ganglionic eminence, genital tubercle, hair follicle, Ileal epithelium, jejunal mucosa, optic nerve, pancreatic ductal cell, Paneth cell, Rostral migratory stream, superior vestibular nucleus, tail of embryo, trigeminal ganglion, ventricular zone
RNA expression pattern · 19
CASK → Achilles tendon, buccal mucosa cell, condyle, conjunctival fornix, duodenum, fossa, ganglionic eminence, genital tubercle, hair follicle, Ileal epithelium, jejunal mucosa, optic nerve, pancreatic ductal cell, Paneth cell, Rostral migratory stream, superior vestibular nucleus, tail of embryo, trigeminal ganglion, ventricular zone
related to External links · 11
CASK → Australia, CASK Research Foundation, CASK-related, Foundation, Human CASK, MICPCH, MICPCHAngelina CASK Neurological Research, Project CASK, UCSC Genome Browser, UK, United States
related to Clinical importance · 9
CASK → As, Females, It, Males, Research, The, These, This, X-linked
related to Interactions · 3
CASK → KCNJ4APBA1ATP2B4CINAP, RPH3ASDC2, TBR1DLG1DLG4F11
Band · 2
CASK → X A1.1|X 8.43 cM, Xp11.4
Chr. · 2
CASK → X chromosome (human), X chromosome (mouse)
End · 2
CASK → 13,717,606 bp, 41,923,554 bp
2.7.11.1 · 1
CASK → ↗

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Important terminology

gene protein bp human chr band chromosome micpch location mutations calcium serine kinase function synaptic including disorders x-linked membrane mouse

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
CASK2.7.11.11.00infobox
CASKAliasesCASK, CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8, calcium/calmodulin-dependent serine protein kinase (MAGUK family), calcium/calmodulin dependent serine protein kina…1.00infobox
CASKAvailable structuresAvailable structuresPDBOrtholog search: PDBe RCSB List of PDB id codes1KGD, 1KWA, 1ZL8, 3C0G, 3C0H, 3C0I, 3MFR, 3MFS, 3MFT, 3MFU, 3TAC1.00infobox
CASKBandXp11.41.00infobox
CASKBandX A1.1|X 8.43 cM1.00infobox
CASKBgeebuccal mucosa cell1.00infobox
CASKBgeehair follicle1.00infobox
CASKBgeeduodenum1.00infobox
CASKBgeejejunal mucosa1.00infobox
CASKBgeepancreatic ductal cell1.00infobox
CASKBgeeoptic nerve1.00infobox
CASKBgeeAchilles tendon1.00infobox
CASKBgeeganglionic eminence1.00infobox
CASKBgeeventricular zone1.00infobox
CASKBgeesuperior vestibular nucleus1.00infobox
CASKBgeegenital tubercle1.00infobox
CASKBgeeIleal epithelium1.00infobox
CASKBgeetail of embryo1.00infobox
CASKBgeeRostral migratory stream1.00infobox
CASKBgeecondyle1.00infobox
CASKBgeeconjunctival fornix1.00infobox
CASKBgeefossa1.00infobox
CASKBgeetrigeminal ganglion1.00infobox
CASKBgeePaneth cell1.00infobox
CASKBioGPSMore reference expression data1.00infobox
CASKChr.X chromosome (human)1.00infobox
CASKChr.X chromosome (mouse)1.00infobox
CASKDatabasesNCBI: entry; OMA: entry1.00infobox
CASKEnd41,923,554 bp1.00infobox
CASKEnd13,717,606 bp1.00infobox

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