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

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

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

Identity

Other names	CAGH39
	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 DataPortal	ENSG00000147044
cBioPortal	CASK
AceView (NCBI)	CASK
Genatlas (Paris)	CASK
WikiGenes	8573
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)
Ensembl	CASK - Xp11.4 [CytoView hg19] CASK - Xp11.4 [CytoView hg38]
Mapping of homologs : NCBI	CASK [Mapview hg19] CASK [Mapview hg38]
OMIM	300172 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 : Unigene	Hs.495984 [ NCBI ]
CGAP (NCI)	Hs.495984
Alternative Splicing : Fast-db (Paris)	GSHG0032053
Alternative Splicing Gallery	ENSG00000147044
Gene Expression	CASK [ NCBI-GEO ] CASK [ SEEK ] CASK [ MEM ]
SOURCE (Princeton)	Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	O14936 (Uniprot)
NextProt	O14936 [Medical]
With graphics : InterPro	O14936
Splice isoforms : SwissVar	O14936 (Swissvar)
Catalytic activity : Enzyme	2.7.11.1 [ Enzyme-Expasy ] 2.7.11.1 2.7.11.1 [ 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 : CluSTr	O14936
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 mutations	8573
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 Atlas	ENSG00000147044
Peptide Atlas	O14936
HPRD	02164
IPI	IPI00514301 IPI00555605 IPI00877929 IPI00937304 IPI00646452 IPI00641315 IPI00644270 IPI00877806 IPI01015842
	Protein Interaction databases
DIP (DOE-UCLA)	O14936
IntAct (EBI)	O14936
FunCoup	ENSG00000147044
BioGRID	CASK
IntegromeDB	CASK
STRING (EMBL)	CASK
	Ontologies - Pathways
QuickGO	O14936
Ontology : AmiGO	negative 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-EBI	negative 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 : BIOCARTA	Synaptic Proteins at the Synaptic Junction [Genes]
Pathways : KEGG	Tight junction
Protein Interaction Database	CASK
DoCM (Curated mutations)	CASK
Wikipedia pathways	CASK
	Gene fusion - rearrangements
	Polymorphisms : SNP, variants
NCBI Variation Viewer	CASK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	CASK
dbVar	CASK
ClinVar	CASK
1000_Genomes	CASK
Exome Variant Server	CASK
SNP (GeneSNP Utah)	CASK
SNP : HGBase	CASK
Genetic variants : HAPMAP	CASK
Genomic Variants (DGV)	CASK [DGVbeta]
	Mutations
ICGC Data Portal	ENSG00000147044
Somatic Mutations in Cancer : COSMIC	CASK
CONAN: Copy Number Analysis	CASK
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 : HGMD	CASK
OMIM	300172 300422 300749
Medgen	CASK
NextProt	O14936 [Medical]
GENETests	CASK
Disease Genetic Association	CASK
Huge Navigator	CASK [HugePedia] CASK [HugeCancerGEM]
snp3D : Map Gene to Disease	8573
DGIdb (Drug Gene Interaction db)	CASK
	General knowledge
Homologs : HomoloGene	CASK
Homology/Alignments : Family Browser (UCSC)	CASK
Phylogenetic Trees/Animal Genes : TreeFam	CASK
Chemical/Protein Interactions : CTD	8573
Chemical/Pharm GKB Gene	PA26081
Clinical trial	CASK
Cancer Resource (Charite)	ENSG00000147044
	Other databases
	Probes
	Litterature
PubMed	86 Pubmed reference(s) in Entrez
CoreMine	CASK
GoPubMed	CASK
iHOP	CASK

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S

Updated	12-2014	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Feb 14 15:01:40 CET 2015

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jlhuret@AtlasGeneticsOncology.org.