Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CASK (calcium/calmodulin-dependent serine protein kinase (MAGUK family))

Identity

Other namesCAGH39
CAMGUK
CMG
FGS4
LIN2
MICPCH
MRXSNA
TNRC8
HGNC (Hugo) CASK
LocusID (NCBI) 8573
Location Xp11.4
Location_base_pair Starts at 41374189 and ends at 41782287 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)CASK   1497
Cards
Entrez_Gene (NCBI)CASK  8573  calcium/calmodulin-dependent serine protein kinase (MAGUK family)
GeneCards (Weizmann)CASK
Ensembl hg19 (Hinxton)ENSG00000147044 [Gene_View]  chrX:41374189-41782287 [Contig_View]  CASK [Vega]
Ensembl hg38 (Hinxton)ENSG00000147044 [Gene_View]  chrX:41374189-41782287 [Contig_View]  CASK [Vega]
ICGC DataPortalENSG00000147044
cBioPortalCASK
AceView (NCBI)CASK
Genatlas (Paris)CASK
WikiGenes8573
SOURCE (Princeton)CASK
Genomic and cartography
GoldenPath hg19 (UCSC)CASK  -     chrX:41374189-41782287 -  Xp11.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CASK  -     Xp11.4   [Description]    (hg38-Dec_2013)
EnsemblCASK - Xp11.4 [CytoView hg19]  CASK - Xp11.4 [CytoView hg38]
Mapping of homologs : NCBICASK [Mapview hg19]  CASK [Mapview hg38]
OMIM300172   300422   300749   
Gene and transcription
Genbank (Entrez)AB039327 AB208859 AF032119 AF035582 AF262404
RefSeq transcript (Entrez)NM_001126054 NM_001126055 NM_003688
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_016754 NT_079573 NW_001842361 NW_004929439
Consensus coding sequences : CCDS (NCBI)CASK
Cluster EST : UnigeneHs.495984 [ NCBI ]
CGAP (NCI)Hs.495984
Alternative Splicing : Fast-db (Paris)GSHG0032053
Alternative Splicing GalleryENSG00000147044
Gene ExpressionCASK [ NCBI-GEO ]     CASK [ SEEK ]   CASK [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14936 (Uniprot)
NextProtO14936  [Medical]
With graphics : InterProO14936
Splice isoforms : SwissVarO14936 (Swissvar)
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)GUANYLATE_KINASE_1 (PS00856)    GUANYLATE_KINASE_2 (PS50052)    L27 (PS51022)    PDZ (PS50106)    PROTEIN_KINASE_DOM (PS50011)    SH3 (PS50002)   
Domains : Interpro (EBI)GK/Ca_channel_bsu    Guanylate_kin-like    Guanylate_kinase_CS    Kinase-like_dom    L27    L27_C    P-loop_NTPase    PDZ    Prot_kinase_dom    Ser/Thr_dual-sp_kinase_dom    SH3_2    SH3_domain   
Related proteins : CluSTrO14936
Domain families : Pfam (Sanger)Guanylate_kin (PF00625)    L27 (PF02828)    PDZ (PF00595)    Pkinase (PF00069)    SH3_2 (PF07653)   
Domain families : Pfam (NCBI)pfam00625    pfam02828    pfam00595    pfam00069    pfam07653   
Domain families : Smart (EMBL)GuKc (SM00072)  L27 (SM00569)  PDZ (SM00228)  S_TKc (SM00220)  SH3 (SM00326)  
DMDM Disease mutations8573
Blocks (Seattle)O14936
PDB (SRS)1KGD    1KWA    1ZL8    3C0G    3C0H    3C0I    3MFR    3MFS    3MFT    3MFU    3TAC   
PDB (PDBSum)1KGD    1KWA    1ZL8    3C0G    3C0H    3C0I    3MFR    3MFS    3MFT    3MFU    3TAC   
PDB (IMB)1KGD    1KWA    1ZL8    3C0G    3C0H    3C0I    3MFR    3MFS    3MFT    3MFU    3TAC   
PDB (RSDB)1KGD    1KWA    1ZL8    3C0G    3C0H    3C0I    3MFR    3MFS    3MFT    3MFU    3TAC   
Human Protein AtlasENSG00000147044
Peptide AtlasO14936
HPRD02164
IPIIPI00514301   IPI00555605   IPI00877929   IPI00937304   IPI00646452   IPI00641315   IPI00644270   IPI00877806   IPI01015842   
Protein Interaction databases
DIP (DOE-UCLA)O14936
IntAct (EBI)O14936
FunCoupENSG00000147044
BioGRIDCASK
IntegromeDBCASK
STRING (EMBL)CASK
Ontologies - Pathways
QuickGOO14936
Ontology : AmiGOnegative regulation of cell-matrix adhesion  guanylate kinase activity  protein serine/threonine kinase activity  protein binding  calmodulin binding  ATP binding  basement membrane  nuclear lamina  nucleolus  cytoplasm  cytosol  plasma membrane  cell-cell junction  protein phosphorylation  cell adhesion  negative regulation of keratinocyte proliferation  actin cytoskeleton  basolateral plasma membrane  nuclear matrix  extracellular matrix organization  neurexin family protein binding  presynaptic membrane  positive regulation of transcription from RNA polymerase II promoter  nucleotide phosphorylation  ciliary membrane  negative regulation of wound healing  calcium ion import  positive regulation of calcium ion import  negative regulation of cellular response to growth factor stimulus  
Ontology : EGO-EBInegative regulation of cell-matrix adhesion  guanylate kinase activity  protein serine/threonine kinase activity  protein binding  calmodulin binding  ATP binding  basement membrane  nuclear lamina  nucleolus  cytoplasm  cytosol  plasma membrane  cell-cell junction  protein phosphorylation  cell adhesion  negative regulation of keratinocyte proliferation  actin cytoskeleton  basolateral plasma membrane  nuclear matrix  extracellular matrix organization  neurexin family protein binding  presynaptic membrane  positive regulation of transcription from RNA polymerase II promoter  nucleotide phosphorylation  ciliary membrane  negative regulation of wound healing  calcium ion import  positive regulation of calcium ion import  negative regulation of cellular response to growth factor stimulus  
Pathways : BIOCARTASynaptic Proteins at the Synaptic Junction [Genes]   
Pathways : KEGGTight junction   
Protein Interaction DatabaseCASK
DoCM (Curated mutations)CASK
Wikipedia pathwaysCASK
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCASK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASK
dbVarCASK
ClinVarCASK
1000_GenomesCASK 
Exome Variant ServerCASK
SNP (GeneSNP Utah)CASK
SNP : HGBaseCASK
Genetic variants : HAPMAPCASK
Genomic VariantsCASK  CASK [DGVbeta]
Mutations
ICGC Data PortalENSG00000147044 
Somatic Mutations in Cancer : COSMICCASK 
CONAN: Copy Number AnalysisCASK 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:41374189-41782287
Mutations and Diseases : HGMDCASK
OMIM300172    300422    300749   
MedgenCASK
NextProtO14936 [Medical]
GENETestsCASK
Disease Genetic AssociationCASK
Huge Navigator CASK [HugePedia]  CASK [HugeCancerGEM]
snp3D : Map Gene to Disease8573
DGIdb (Drug Gene Interaction db)CASK
General knowledge
Homologs : HomoloGeneCASK
Homology/Alignments : Family Browser (UCSC)CASK
Phylogenetic Trees/Animal Genes : TreeFamCASK
Chemical/Protein Interactions : CTD8573
Chemical/Pharm GKB GenePA26081
Clinical trialCASK
Cancer Resource (Charite)ENSG00000147044
Other databases
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
CoreMineCASK
GoPubMedCASK
iHOPCASK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:37:40 CET 2014
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