Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CASK (calcium/calmodulin dependent serine protein kinase)

Identity

Alias (NCBI)CAGH39
CAMGUK
CMG
FGS4
LIN2
MICPCH
MRXSNA
TNRC8
hCASK
HGNC (Hugo) CASK
HGNC Alias symbLIN2
CAGH39
FGS4
HGNC Previous nameTNRC8
HGNC Previous nametrinucleotide repeat containing 8
 calcium/calmodulin-dependent serine protein kinase (MAGUK family)
LocusID (NCBI) 8573
Atlas_Id 43194
Location Xp11.4  [Link to chromosome band Xp11]
Location_base_pair Starts at 41514936 and ends at 41923034 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CASK (Xp11.4) / CASK (Xp11.4)CASK (Xp11.4) / COL24A1 (1p22.3)CASK (Xp11.4) / COX7A2 (6q14.1)
CASK (Xp11.4) / EYA2 (20q13.12)CASK (Xp11.4) / GLIPR1L1 (12q21.2)CASK (Xp11.4) / NPR2 (9p13.3)
EML4 (2p21) / CASK (Xp11.4)GRIP1 (12q14.3) / CASK (Xp11.4)LOC100507412 (-) / CASK (Xp11.4)
MESDC2 (15q25.1) / CASK (Xp11.4)TBL1X (Xp22.31) / CASK (Xp11.4)CASK Xp11.4 / EYA2 20q13.12
CASK Xp11.4 / GLIPR1L1 12q21.2EML4 2p21 / CASK Xp11.4TBL1X Xp22.31 / CASK Xp11.4

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) [ 2 ]
  t(X;15)(p11;q25) MESD/CASK
t(X;14)(p11.4;q32.33) IGH/GPR34

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(X;2)(p11;p21) EML4/CASK
t(X;X)(p11;p22) TBL1X/CASK
t(X;12)(p11;q21) CASK/GLIPR1L1
t(X;20)(p11;q13) CASK/EYA2

External links

Nomenclature
HGNC (Hugo)CASK   1497
Cards
Entrez_Gene (NCBI)CASK  8573  calcium/calmodulin dependent serine protein kinase
AliasesCAGH39; CAMGUK; CMG; FGS4; 
LIN2; MICPCH; MRXSNA; TNRC8; hCASK
GeneCards (Weizmann)CASK
Ensembl hg19 (Hinxton)ENSG00000147044 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147044 [Gene_View]  ENSG00000147044 [Sequence]  chrX:41514936-41923034 [Contig_View]  CASK [Vega]
ICGC DataPortalENSG00000147044
TCGA cBioPortalCASK
AceView (NCBI)CASK
Genatlas (Paris)CASK
WikiGenes8573
SOURCE (Princeton)CASK
Genetics Home Reference (NIH)CASK
Genomic and cartography
GoldenPath hg38 (UCSC)CASK  -     chrX:41514936-41923034 -  Xp11.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CASK  -     Xp11.4   [Description]    (hg19-Feb_2009)
GoldenPathCASK - Xp11.4 [CytoView hg19]  CASK - Xp11.4 [CytoView hg38]
ImmunoBaseENSG00000147044
genome Data Viewer NCBICASK [Mapview hg19]  
OMIM300172   300422   300749   300908   
Gene and transcription
Genbank (Entrez)AB039327 AB208859 AF032119 AF035582 AF262404
RefSeq transcript (Entrez)NM_001126054 NM_001126055 NM_001367721 NM_003688
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CASK
Alternative Splicing GalleryENSG00000147044
Gene ExpressionCASK [ NCBI-GEO ]   CASK [ EBI - ARRAY_EXPRESS ]   CASK [ SEEK ]   CASK [ MEM ]
Gene Expression Viewer (FireBrowse)CASK [ Firebrowse - Broad ]
GenevisibleExpression of CASK in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8573
GTEX Portal (Tissue expression)CASK
Human Protein AtlasENSG00000147044-CASK [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14936   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14936  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14936
Splice isoforms : SwissVarO14936
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 ]   [ MEROPS ]
PhosPhoSitePlusO14936
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)CASK_SH3    GK/Ca_channel_bsu    Guanylate_kin-like_dom    Guanylate_kinase_CS    Kinase-like_dom_sf    L27_C    L27_dom    L27_dom_sf    P-loop_NTPase    PDZ    PDZ_sf    Prot_kinase_dom    SH3-like_dom_sf    SH3_domain   
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)  SH3 (SM00326)  
Conserved Domain (NCBI)CASK
DMDM Disease mutations8573
Blocks (Seattle)CASK
PDB (RSDB)1KGD    1KWA    1ZL8    3C0G    3C0H    3C0I    3MFR    3MFS    3MFT    3MFU    3TAC   
PDB Europe1KGD    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   
Structural Biology KnowledgeBase1KGD    1KWA    1ZL8    3C0G    3C0H    3C0I    3MFR    3MFS    3MFT    3MFU    3TAC   
SCOP (Structural Classification of Proteins)1KGD    1KWA    1ZL8    3C0G    3C0H    3C0I    3MFR    3MFS    3MFT    3MFU    3TAC   
CATH (Classification of proteins structures)1KGD    1KWA    1ZL8    3C0G    3C0H    3C0I    3MFR    3MFS    3MFT    3MFU    3TAC   
SuperfamilyO14936
Human Protein Atlas [tissue]ENSG00000147044-CASK [tissue]
Peptide AtlasO14936
HPRD02164
IPIIPI00514301   IPI00555605   IPI00877929   IPI00937304   IPI00646452   IPI00641315   IPI00644270   IPI00877806   IPI01015842   
Protein Interaction databases
DIP (DOE-UCLA)O14936
IntAct (EBI)O14936
FunCoupENSG00000147044
BioGRIDCASK
STRING (EMBL)CASK
ZODIACCASK
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  basement membrane  nuclear lamina  nucleolus  cytoplasm  cytosol  plasma membrane  cell-cell junction  focal adhesion  protein phosphorylation  cell adhesion  neurotransmitter secretion  negative regulation of keratinocyte proliferation  negative regulation of keratinocyte proliferation  actin cytoskeleton  basolateral plasma membrane  nuclear matrix  vesicle  neurexin family protein binding  presynaptic membrane  positive regulation of transcription by RNA polymerase II  GMP metabolic process  GDP metabolic process  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  Schaffer collateral - CA1 synapse  regulation of synaptic vesicle exocytosis  
Ontology : EGO-EBInegative regulation of cell-matrix adhesion  guanylate kinase activity  protein serine/threonine kinase activity  protein binding  calmodulin binding  ATP binding  basement membrane  basement membrane  nuclear lamina  nucleolus  cytoplasm  cytosol  plasma membrane  cell-cell junction  focal adhesion  protein phosphorylation  cell adhesion  neurotransmitter secretion  negative regulation of keratinocyte proliferation  negative regulation of keratinocyte proliferation  actin cytoskeleton  basolateral plasma membrane  nuclear matrix  vesicle  neurexin family protein binding  presynaptic membrane  positive regulation of transcription by RNA polymerase II  GMP metabolic process  GDP metabolic process  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  Schaffer collateral - CA1 synapse  regulation of synaptic vesicle exocytosis  
Pathways : KEGGTight junction   
NDEx NetworkCASK
Atlas of Cancer Signalling NetworkCASK
Wikipedia pathwaysCASK
Orthology - Evolution
OrthoDB8573
GeneTree (enSembl)ENSG00000147044
Phylogenetic Trees/Animal Genes : TreeFamCASK
HOGENOMO14936
Homologs : HomoloGeneCASK
Homology/Alignments : Family Browser (UCSC)CASK
Gene fusions - Rearrangements
Fusion : MitelmanCASK/EYA2 [Xp11.4/20q13.12]  
Fusion : MitelmanCASK/GLIPR1L1 [Xp11.4/12q21.2]  
Fusion : MitelmanEML4/CASK [2p21/Xp11.4]  
Fusion : MitelmanMESDC2/CASK [15q25.1/Xp11.4]  
Fusion : MitelmanTBL1X/CASK [Xp22.31/Xp11.4]  
Fusion PortalCASK Xp11.4 EYA2 20q13.12 BRCA
Fusion PortalCASK Xp11.4 GLIPR1L1 12q21.2 BRCA
Fusion PortalEML4 2p21 CASK Xp11.4 GBM
Fusion PortalTBL1X Xp22.31 CASK Xp11.4 BRCA
Fusion : QuiverCASK
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASK
dbVarCASK
ClinVarCASK
MonarchCASK
1000_GenomesCASK 
Exome Variant ServerCASK
GNOMAD BrowserENSG00000147044
Varsome BrowserCASK
Genetic variants : HAPMAP8573
Genomic Variants (DGV)CASK [DGVbeta]
DECIPHERCASK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCASK 
Mutations
ICGC Data PortalCASK 
TCGA Data PortalCASK 
Broad Tumor PortalCASK
OASIS PortalCASK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASK  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCASK
Mutations and Diseases : HGMDCASK
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
BioMutasearch CASK
DgiDB (Drug Gene Interaction Database)CASK
DoCM (Curated mutations)CASK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CASK (select a term)
intoGenCASK
Cancer3DCASK(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300172    300422    300749    300908   
Orphanet17551    889   
DisGeNETCASK
MedgenCASK
Genetic Testing Registry CASK
NextProtO14936 [Medical]
TSGene8573
GENETestsCASK
Target ValidationCASK
Huge Navigator CASK [HugePedia]
snp3D : Map Gene to Disease8573
BioCentury BCIQCASK
ClinGenCASK (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTD8573
Pharm GKB GenePA26081
Clinical trialCASK
Miscellaneous
canSAR (ICR)CASK (select the gene name)
HarmonizomeCASK
DataMed IndexCASK
Probes
Litterature
PubMed123 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCASK
EVEXCASK
GoPubMedCASK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 14 14:04:24 CEST 2020
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