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CASK Gene

protein-coding   GIFtS: 73
GCID: GC0XM041374

Calcium/Calmodulin-Dependent Serine Protein Kinase (MAGUK...

(Previous name: trinucleotide repeat containing 8)
(Previous symbol: TNRC8)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Calcium/Calmodulin-Dependent Serine Protein Kinase (MAGUK Family)1 2     MICPCH2 5
TNRC81 2     MRXSNA2 5
Trinucleotide Repeat Containing 81 2     CAGH392
Protein Lin-2 Homolog2 3     CAMGUK2
LIN22 3     Calcium/Calmodulin-Dependent Serine Protein Kinase Membrane-Associated
Guanylate Kinase2
hCASK2 3     Peripheral Plasma Membrane Protein CASK2
EC 2.7.11.13 8     Calcium/Calmodulin-Dependent Serine Protein Kinase3
CMG2 5     EC 2.7.118
FGS42 5     

External Ids:    HGNC: 14971   Entrez Gene: 85732   Ensembl: ENSG000001470447   OMIM: 3001725   UniProtKB: O149363   

Export aliases for CASK gene to outside databases

Previous GC identifers: GC0XM039406 GC0XM039627 GC0XM040223 GC0XM040409 GC0XM041134 GC0XM041259 GC0XM039105


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CASK Gene:
This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK
(membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the
encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4,
mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental
retardation. Multiple transcript variants encoding different isoforms have been found for this gene.(provided by
RefSeq, Mar 2010)

GeneCards Summary for CASK Gene:
CASK (calcium/calmodulin-dependent serine protein kinase (MAGUK family)) is a protein-coding gene. Diseases associated with CASK include substernal goiter, and mental retardation, with or without nystagmus. GO annotations related to this gene include neurexin family protein binding and protein serine/threonine kinase activity. An important paralog of this gene is MPP7.

UniProtKB/Swiss-Prot: CSKP_HUMAN, O14936
Function: Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel
trafficking. Contributes to neural development and regulation of gene expression via interaction with the
transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and
syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction
with syndecan and with the actin/spectrin-binding protein 4.1

Gene Wiki entry for CASK Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_079573.5  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CASK gene promoter:
         Nkx3-1   Nkx3-1 v4   NF-1   Sp1   Nkx3-1 v1   Max   Nkx3-1 v2   Nkx3-1 v3   IRF-7A   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCASK promoter sequence
   Search Chromatin IP Primers for CASK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CASK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.4   Ensembl cytogenetic band:  Xp11.4   HGNC cytogenetic band: Xp11.4

CASK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASK gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM041374:  view genomic region     (about GC identifiers)

Start:
41,374,187 bp from pter      End:
41,782,716 bp from pter
Size:
408,530 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CSKP_HUMAN, O14936 (See protein sequence)
Recommended Name: Peripheral plasma membrane protein CASK  
Size: 926 amino acids; 105123 Da
Cofactor: Unlike other protein kinases, does not require a divalent cation such as magnesium for catalytic
activity
Subunit: Binds WHRN and NRXN1 cytosolic tail. Interacts with CASKIN1, APBA1, LIN7(A/B/C) and L27 domain of DLG1
and isoform 2 of DLG4 (By similarity). CASK and LIN7 form two mutually exclusive tripartite complexes with APBA1
or CASKIN1 (By similarity). Interacts with FCHSD2. Interacts with TSPYL2. Part of a complex containing CASK, TBR1
and TSPYL2 (By similarity). Identified in a complex with ACTN4, IQGAP1, MAGI2, NPHS1, SPTAN1 and SPTBN1 (By
similarity). Interacts with KIRREL3
Selected PDB 3D structures from and Proteopedia for CASK (see all 11):
1KGD (3D)        1KWA (3D)        1ZL8 (3D)        3C0G (3D)        3C0H (3D)        3C0I (3D)    
Secondary accessions: A6NES1 B7ZKY0 O43215 Q17RI4 Q59HA0 Q5VT16 Q5VT17 Q5VT18 Q5VT19 Q66T42
Q9BYH6 Q9NYB2 Q9NYB3
Alternative splicing: 6 isoforms:  O14936-1   O14936-2   O14936-3   O14936-4   O14936-5   O14936-6   (Gene prediction confirmed by EST data)

Explore the universe of human proteins at neXtProt for CASK: NX_O14936

Explore proteomics data for CASK at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys825
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CASK (O14936) (see all 26)
     SAKDLVR  NEYLEYG  PYGKPVD  FNARRKL 


    See CASK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001119526.1  NP_001119527.1  NP_003679.2  

    ENSEMBL proteins: 
     ENSP00000400526   ENSP00000367405   ENSP00000367421   ENSP00000367410   ENSP00000367400  
     ENSP00000367408   ENSP00000398007   ENSP00000367396   ENSP00000322727   ENSP00000354641  
    Reactome Protein details: O14936

    CASK Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CASK
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    OriGene MassSpec for CASK
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    Sino Biological Recombinant Protein for CASK
    Sino Biological Cell Lysate for CASK
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CASK

    CASK Antibody Products:

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    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for CASK 
    OriGene Antibodies for CASK
    OriGene Custom Antibody Services for CASK
    Novus Biologicals CASK Antibodies
    Abcam antibodies for CASK
    Cloud-Clone Corp. Antibodies for CASK
    ThermoFisher Antibodies for CASK
    LSBio Antibodies in human, mouse, rat for CASK

    CASK Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CASK
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CASK
    Cloud-Clone Corp. CLIAs for CASK


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
    CASK family

    Selected InterPro protein domains (see all 12):
     IPR008144 Guanylate_kin-like
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR008145 GK/Ca_channel_bsu
     IPR011009 Kinase-like_dom
     IPR014775 L27_C

    Graphical View of Domain Structure for InterPro Entry O14936

    ProtoNet protein and cluster: O14936

    5 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB001478 PDZ/DHR/GLGF domain
    IPB004172 L27 domain
    IPB008144 Guanylate kinase
    IPB011511 Variant SH3


    UniProtKB/Swiss-Prot: CSKP_HUMAN, O14936
    Domain: The first L27 domain binds DLG1 and the second L27 domain probably binds LIN7 (By similarity)
    Domain: The protein kinase domain mediates the interaction with FCHSD2
    Similarity: In the N-terminal section; belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase
    family. CaMK subfamily
    Similarity: Belongs to the MAGUK family
    Similarity: Contains 1 guanylate kinase-like domain
    Similarity: Contains 2 L27 domains
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 SH3 domain


    CASK for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CSKP_HUMAN, O14936
    Function: Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel
    trafficking. Contributes to neural development and regulation of gene expression via interaction with the
    transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and
    syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction
    with syndecan and with the actin/spectrin-binding protein 4.1
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Differs from archetypal CaMK members in that the kinase domain exhibits a constitutively active
    conformation and the autoinhibitory region does not engage in direct contact with the ATP-binding cleft, although
    it still binds Ca(2+)/CAM
    Biophysicochemical properties: Kinetic parameters: KM=563 uM for ATP; Note=Kinetics of autophosphorylation assay
    were measured, rather than phosphorylation of an exogenous substrate;

         Genatlas biochemistry entry for CASK:
    membrane associated guanylate kinase,Drosophila CAMGUK homolog,expressed in synaptic membranes of the central
    nervous system

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004385guanylate kinase activity TAS9660868
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI11377421
         
    CASK for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for CASK:
     Decreased cilium length after   Decreased substrate adherent c  Decreased telomerase activity  Increased apoptosis 
     Increased cell death HMECs cel 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cask):
     cellular  craniofacial  digestive/alimentary  growth/size/body  mortality/aging 
     nervous system  respiratory system 

    CASK for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Casktm1.1Sud for CASK

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CASK
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CASK

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASK
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASK

    miRNA
    Products:
        
    miRTarBase miRNAs that target CASK:
    hsa-mir-16-5p (MIRT031989)

    Block miRNA regulation of human, mouse, rat CASK using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CASK (see all 170):
    hsa-miR-26a-2* hsa-miR-3938 hsa-miR-1224-3p hsa-miR-146a hsa-miR-138-2* hsa-miR-3916 hsa-miR-4275 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidCASK 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CASK
    Predesigned siRNA for gene silencing in human, mouse, rat CASK

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CASK

    Clone
    Products:
         
    OriGene clones in human, mouse for CASK (see all 17)
    OriGene ORF clones in mouse, rat for CASK
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CASK (NM_003688)
    Sino Biological Human cDNA Clone for CASK
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASK

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CASK
    Browse ESI BIO Cell Lines and PureStem Progenitors for CASK 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASK


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CSKP_HUMAN, O14936: Nucleus (By similarity). Cytoplasm (By similarity). Cell membrane; Peripheral membrane
    protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton4
    nucleus4
    cytosol3
    extracellular2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604colocalizes with basement membrane IDA18664494
    GO:0005634nucleus ----
    GO:0005652nuclear lamina IDA18664494
    GO:0005730nucleolus IDA18664494
    GO:0005737cytoplasm IDA18664494

    CASK for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CASK About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Parkin-Ubiquitin Proteasomal System pathway
    Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway0.89
    Parkin-Ubiquitin Proteasomal System pathway0.89
    2Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.35
    Syndecan interactions0.00
    3Cell junction organization
    Cell-Cell communication0.64
    4Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36
    5Degradation of the extracellular matrix
    Extracellular matrix organization0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CASK
        Epithelial Tight Junctions

    1 Cell Signaling Technology (CST) Pathway for CASK
        Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for CASK
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway

    4 BioSystems Pathways for CASK
        Parkin-Ubiquitin Proteasomal System pathway
    Syndecan-3-mediated signaling events
    Syndecan-2-mediated signaling events
    Syndecan-1-mediated signaling events


    2 Reactome Pathways for CASK
        Nephrin interactions
    Syndecan interactions


    1 Kegg Pathway  (Kegg details for CASK):
        Tight junction


    CASK for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CASK: 
              Cytoskeleton Regulators in human mouse rat
              Tight Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CASK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CASK (O149361, 2, 3 ENSP000003674084) via UniProtKB, MINT, STRING, and/or I2D (see all 149)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPS8Q129291, 2, 3, ENSP000002811724EBI-1215506,EBI-375576 MINT-2730173 MINT-2730155 MINT-2825320 I2D: score=2 STRING: ENSP00000281172
    EPB41P111712, 3, ENSP000002901004MINT-17057 I2D: score=5 STRING: ENSP00000290100
    ARHGEF7Q141552, 3, ENSP000003648934MINT-62248 I2D: score=1 STRING: ENSP00000364893
    F11RQ9Y6242, 3MINT-58195 I2D: score=2 
    PRKD2Q9BZL62, 3MINT-61755 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001953negative regulation of cell-matrix adhesion IMP18664494
    GO:0006468protein phosphorylation ----
    GO:0007155cell adhesion TAS9660868
    GO:0010839negative regulation of keratinocyte proliferation IMP18664494
    GO:0030198extracellular matrix organization TAS--

    CASK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CASK (CSKP)

    3 HMDB Compounds for CASK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--

    1 DrugBank Compound for CASK    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Formic AcidAminic acid (see all 5)64-18-6target----

    4 Novoseek inferred chemical compound relationships for CASK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 78.1 19 11120739 (1), 12641734 (1), 19125693 (1), 20067577 (1) (see all 11)
    serine 63.4 32 11120739 (2), 19125693 (2), 18019060 (2), 19847910 (2) (see all 19)
    calcium 47.2 31 11120739 (2), 19125693 (2), 18019060 (2), 20424264 (2) (see all 17)
    tyrosine 0.938 1 16602692 (1)



    CASK for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for CASK gene (3 alternative transcripts): 
    NM_001126054.2  NM_001126055.2  NM_003688.3  

    Unigene Cluster for CASK:

    Calcium/calmodulin-dependent serine protein kinase (MAGUK family)
    Hs.495984  [show with all ESTs]
    Unigene Representative Sequence: NM_003688
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000421587(uc004dfj.4) ENST00000378163 ENST00000378179 ENST00000378168
    ENST00000378158 ENST00000378166 ENST00000442742 ENST00000472704 ENST00000378154
    ENST00000469265 ENST00000486402 ENST00000468986 ENST00000477823 ENST00000318588(uc004dfk.4 uc004dfl.4 uc004dfm.4 uc004dfn.4)
    ENST00000361962
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CASK (see all 170):
    hsa-miR-26a-2* hsa-miR-3938 hsa-miR-1224-3p hsa-miR-146a hsa-miR-138-2* hsa-miR-3916 hsa-miR-4275 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidCASK 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CASK
    Clone
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    OriGene ORF clones in mouse, rat for CASK
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CASK (NM_003688)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASK
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CASK
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CASK
      QuantiTect SYBR Green Assays in human, mouse, rat CASK
      QuantiFast Probe-based Assays in human, mouse, rat CASK

    Additional mRNA sequence: 

    AB039327.2 AB208859.1 AF032119.1 AF035582.1 AF262404.1 AF262405.1 AK025872.1 AK056476.1 
    AK313399.1 AY705392.1 BC029936.1 BC035990.1 BC117311.1 BC143454.1 BC143456.1 

    15 DOTS entries:

    DT.214767  DT.217027  DT.100820409  DT.91902635  DT.92434324  DT.121285410  DT.40111714  DT.121285489 
    DT.70100249  DT.121285394  DT.75120166  DT.92434325  DT.92434327  DT.95227912  DT.100828322 

    Selected AceView cDNA sequences (see all 124):

    H88880 AI431411 AI652198 BG033956 AA586558 AW593454 BF434865 AI493971 
    CR611825 BF063482 CA312343 BF195952 AW851147 R98625 BF725583 CB157686 
    BC035990 BX096050 BQ775180 AB039327 CB240993 BM769808 AU137291 AF262404 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CASK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGTGAAATG
    CASK Expression
    About this image


    CASK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Ovary (Reproductive System)
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Kidney (Urinary System)
             Metanephros
    CASK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CASK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495984

    UniProtKB/Swiss-Prot: CSKP_HUMAN, O14936
    Tissue specificity: Ubiquitous. Expression is significantly greater in brain relative to kidney, lung, and liver
    and in fetal brain and kidney relative to lung and liver

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CASK gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cask1 , 5 calcium/calmodulin-dependent serine protein kinase more1, 5 95.19(n)1
    99.89(a)1
      X (8.43 cM)5
    123611  NM_001284503.11  NP_001271432.11 
     135170805 
    chicken
    (Gallus gallus)
    Aves CASK1 calcium/calmodulin-dependent serine protein kinase more 89.19(n)
    99.53(a)
      418565  XM_416769.4  XP_416769.3 
    lizard
    (Anolis carolinensis)
    Reptilia CASK6
    calcium/calmodulin-dependent serine protein kinase...
    97(a)
    1 ↔ 1
    3(134161935-134351388)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.76742 Xenopus laevis transcribed sequence with moderate similarity more 84.46(n)    BJ072396.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cask2 calcium/calmodulin-dependent serine protein kinase 80.38(n)   259195  AF252546.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Caki3
    CASK1
    adult walking behavior
    calcium/calmodulin-dependent more3
    CASK ortholog1
    58(a)
    (best of 2)3
    61.4(n)1
    64.43(a)1
      425671  NM_001275882.11  NP_001262811.11 
    worm
    (Caenorhabditis elegans)
    Secernentea lin-21 , 3 MAGUK protein, calcium/calmodulin
    dependent protein more3
    lin-21
    46(a)3
    56.55(n)1
    52.61(a)1
      X(12435214-12441087)3
    1814001  NM_001029416.21  NP_001024587.11 


    ENSEMBL Gene Tree for CASK (if available)
    TreeFam Gene Tree for CASK (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CASK gene
    MPP72  DLG32  MPP62  MPP52  DLG22  MPP22  MPP42  DLG42  
    DLG12  MPP12  MPP32  
    Selected SIMAP similar genes for CASK using alignment to 7 protein entries:     CSKP_HUMAN (see all proteins) (see all similar genes):
    MPP1    CAMK2A    CAMK2D    CAMK2B    CAMK2G    MPP6
    DKFZp564L2416    DKFZp666F1010    MPP2    KIAA0999    PHKG2    PRKD1
    DAPK3    NUAK1    PSKH2    STK11    PRKAA1    CAMK1

    CASK for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CASK (see all 4482)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0629984
    Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)4--see VAR_0629982 D G mis40--------
    VAR_0419564
    A lung large cell carcinoma sample4--see VAR_0419562 G V mis40--------
    VAR_0629964
    Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)4--see VAR_0629962 Y H mis40--------
    VAR_0629974
    Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)4--see VAR_0629972 P S mis40--------
    VAR_0587194
    FG syndrome 4 (FGS4)4--see VAR_0587192 R L mis40--------
    rs1378528201,2
    Cpathogenic141367358(-) CTTCAC/TCACAA 6 P S mis11Minor allele frequency- T:0.00NA 4544
    rs1492226051,2
    C--41292228(+) CTGGGC/TGGAGC 3 -- ds50010--------
    rs2000438411,2
    C--41292381(+) TTTTT-/TAAGAT 3 -- ds50010--------
    rs2012985731,2
    C--41292385(+) CTTTT-/CTTTTT 3 -- ds50010--------
    rs1928035071,2
    --41292540(+) GCCAGA/GAGCTG 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for CASK (41374187 - 41624187 bp, first 250kb of CASK)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CASK:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1007793CNV Deletion20482838
    esv2740113CNV Deletion23290073
    nsv6875CNV Insertion18451855
    nsv508763CNV Insertion20534489
    esv33720CNV Loss17666407
    nsv523134CNV Gain19592680

    Human Gene Mutation Database (HGMD): CASK
    Locus Specific Mutation Databases (LSDB): CASK

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300172   
    OMIM disorders: 300749  300422  
    UniProtKB/Swiss-Prot: CSKP_HUMAN, O14936
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749]: A
    disorder characterized by significantly below average general intellectual functioning associated with
    impairments in adaptive behavior and manifested during the developmental period. Affected individuals can
    manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly,
    disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of mental retardation alone or
    associated with nystagmus. Note=The disease is caused by mutations affecting the gene represented in this entry
  • FG syndrome 4 (FGS4) [MIM:300422]: FG syndrome (FGS) is an X-linked disorder characterized by mental
    retardation, relative macrocephaly, hypotonia and constipation. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for CASK (see all 39):    
    About MalaCards
    substernal goiter    mental retardation, with or without nystagmus    mental retardation and microcephaly with pontine and cerebellar hypoplasia    intellectual disability and microcephaly with pontine and cerebellar hypoplasia
    cask-related disorders    fg syndrome 4    low compliance bladder    detrusor sphincter dyssynergia
    fg syndrome    cerebellar hypoplasia    urethral obstruction    tethered spinal cord syndrome
    neurogenic bladder    microcephaly    pontocerebellar hypoplasia    mental retardation
    congenital nystagmus    urethritis    goiter    optic atrophy

    10 diseases from the University of Copenhagen DISEASES database for CASK:
    Low compliance bladder     Neurogenic bladder     Detrusor sphincter dyssynergia     Urethral obstruction
    FG syndrome     Tethered spinal cord syndrome     Microcephaly     Intellectual disability
    Cystitis     Substernal goiter

    CASK for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CASK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 18.6 2 19847910 (2), 20067577 (1), 20029458 (1)

    Genetic Association Database (GAD): CASK
    Human Genome Epidemiology (HuGE) Navigator: CASK (1 document)

    Export disorders for CASK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CASK gene, integrated from 10 sources (see all 115):
    (articles sorted by number of sources associating them with CASK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells. (PubMed id 9660868)1, 2, 9 Cohen A.R....Anderson J.M. (J. Cell Biol. 1998)
    2. A missense mutation in CASK causes FG syndrome in an Italian family. (PubMed id 19200522)1, 2 Piluso G.... Nigro V. (Am. J. Hum. Genet. 2009)
    3. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PubMed id 19736351)1, 4 Guilmatre A....Campion D. (Arch. Gen. Psychiatry 2009)
    4. CASK functions as a Mg2+-independent neurexin kinase. (PubMed id 18423203)1, 2 Mukherjee K.... Wahl M.C. (Cell 2008)
    5. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. (PubMed id 19165920)1, 2 Najm J....Kutsche K. (Nat. Genet. 2008)
    6. Mapping and expression analysis of the human CASK gene. (PubMed id 11003712)1, 2 Stevenson D.... Wilson J.B. (Mamm. Genome 2000)
    7. The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy. (PubMed id 9722958)1, 3 Dimitratos S.D....Bryant P.J. (Genomics 1998)
    8. Crystal structure of the hCASK PDZ domain reveals the structural basis of class II PDZ domain target recognition. (PubMed id 9546224)1, 2 Daniels D.L.... Bruenger A.T. (Nat. Struct. Biol. 1998)
    9. Human calcium/calmodulin-dependent serine protein kinase regulates the expression of p21 via the E2A transcription factor. (PubMed id 19125693)1, 9 Sun R....Xia Z. (Biochem. J. 2009)
    10. The MAGUK-family protein CASK is targeted to nuclei of the basal epidermis and controls keratinocyte proliferation. (PubMed id 18664494)1, 9 Ojeh N....MAoAottAo A. (J. Cell. Sci. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8573 HGNC: 1497 AceView: CASK Ensembl:ENSG00000147044 euGenes: HUgn8573
    ECgene: CASK Kegg: 8573 H-InvDB: CASK

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CASK Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CASK gene:
    Search GeneIP for patents involving CASK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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