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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CASK Gene

protein-coding   GIFtS: 68
GCID: GC0XM041374

calcium/calmodulin-dependent serine protein kinase (MAGUK...

(Previous name: trinucleotide repeat containing 8 )
(Previous symbol: TNRC8)
 Explore 33 diseases affiliated with
CASK via
MalaCards
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 Human Malady Compendium 
Biological research products
for CASK    

Aliases
for CASK gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Calcium/Calmodulin-Dependent Serine Protein Kinase (MAGUK Family)1 2     CMG2 5
LIN21 2 3     MICPCH2 5
FGS41 2 5     CAMGUK2
CAGH391 2     MRXSNA2
TNRC81 2     Calcium/Calmodulin-Dependent Serine Protein Kinase Membrane-Associated
Guanylate Kinase2
Trinucleotide Repeat Containing 81 2     Peripheral Plasma Membrane Protein CASK2
Protein Lin-2 Homolog2 3     Calcium/Calmodulin-Dependent Serine Protein Kinase3
HCASK1     EC 2.7.118
EC 2.7.11.13 8     

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


Summaries
for CASK gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CASK:
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)

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 TRB1. 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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_079573.4  
Regulatory elements:
   SABiosciences 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 plasmid: CASK promoter sequence
   Search SABiosciences Chromatin IP Primers for CASK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CASK gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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, TRB1 and
TSPYL2 (By similarity). Identified in a complex with ACTN4, IQGAP1, MAGI2, NPHS1, SPTAN1 and SPTBN1 (By similarity).
Interacts with KIRREL3
Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity). Cell membrane; Peripheral membrane protein
(By similarity)
6/11 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14936

    • 4/26 DME Specific Peptides for CASK (O14936) (see all 26)
     SAKDLVR  NEYLEYG  PYGKPVD  FNARRKL 

    CASK Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CASK

    Gene Ontology (GO): 5/17 cellular component terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604colocalizes with basement membrane IDA18664494
    GO:0005624membrane fraction ----
    GO:0005625soluble fraction ----
    GO:0005634nucleus ----
    GO:0005652nuclear lamina IDA18664494


    CASK for ontologies           About GeneDecksing



    CASK Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CASK
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    ThermoFisher Antibodies for CASK

    Assay Products for CASK: 
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    Uscn ELISAs and CLIAs for CASK

    Protein Domains /
    Families
    for CASK gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CASK for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR008144 Guanylate_kin
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR008145 Guanylate_kin/L-typ_Ca_channel
     IPR011009 Kinase-like_dom
     IPR014775 L27_C

    Graphical View of Domain Structure for InterPro Entry O14936

    ProtoNet protein and cluster: O14936

    5 Blocks protein families:
    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


    Function
    for CASK gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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 TRB1. 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 3): CASK
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CASK
    8/170 QIAGEN miScript miRNA 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 plasmid: CASK 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CASK (see all 7)
    OriGene shRNA RFP: CASK
    OriGene siRNA: CASK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASK

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASK (see all 5)
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    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)
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    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:0005515protein binding IPI18423203
    GO:0005516calmodulin binding IEA--


    CASK for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Casktm1.1Sud for CASK
         7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cask):
     cellular  craniofacial  digestive/alimentary  growth/size  mortality/aging 
     nervous system  respiratory system 

    CASK for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CASK gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    		Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway1.00
    		Parkin-Ubiquitin Proteasomal System pathway0.93
    		Proteolysis_Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    2Neuroscience
    		Neuroscience1.00
    3Nephrin interactions
    		Nephrin interactions1.00
    4Syndecan-1-mediated signaling events
    		Syndecan-1-mediated signaling events1.00
    5Syndecan-2-mediated signaling events
    		Syndecan-2-mediated signaling events1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CASK
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway

    1 Downloadable PowerPoint Slide of QIAGEN 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
    Cell-Cell communication


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


    CASK for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CASK

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

    5/111 Interacting proteins for CASK (O149361, 2, 3 ENSP000003674084) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPS8Q129292, 3, ENSP000002811724MINT-2730173 MINT-2730155 MINT-2825320 I2D: score=2 STRING: ENSP00000281172
    LIN7AO149102, 3, ENSP000002612034MINT-2730201 MINT-2730090 I2D: score=4 STRING: ENSP00000261203
    DLG1Q129592, 3, ENSP000003457314MINT-7211267 I2D: score=6 STRING: ENSP00000345731
    F11RQ9Y6242, 3, ENSP000002897794MINT-58195 I2D: score=2 STRING: ENSP00000289779
    ARHGEF7Q141552, 3, ENSP000003648934MINT-62248 I2D: score=1 STRING: ENSP00000364893
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001953negative regulation of cell-matrix adhesion IMP18664494
    GO:0007155cell adhesion TAS9660868
    GO:0010839negative regulation of keratinocyte proliferation IMP18664494
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--
    GO:0061045negative regulation of wound healing IMP18664494


    CASK for ontologies           About GeneDecksing



    Drugs & Compounds
    for CASK gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CASK for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CASK

    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 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)

    Search CenterWatch for drugs/clinical trials and news about CASK / CSKP 

    Transcripts
    for CASK gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

    miRNA
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    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 plasmid: CASK 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CASK (see all 7)
    OriGene shRNA RFP: CASK
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASK
    Clone
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    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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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CASK
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASK
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASK

    Additional cDNA 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 

    24/124 AceView cDNA sequences (see all 124):

    CB157686 R98625 AI016718 CA312343 BF725583 AW851147 BC035990 BX096050 
    AB039327 BQ775180 CB240993 AA364509 W68164 AI678523 CB243618 H88879 
    BX477825 BG697584 BE675973 BX099511 AV707947 BM769808 AF262404 AU137291 

    GeneLoc Exon Structure


    Expression
    for CASK gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CASK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGTGAAATG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See CASK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CASK

    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
    for CASK gene

    (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)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for CASK gene from 9/34 species (see all 34)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CASK1 calcium/calmodulin-dependent serine protein kinase more 88.85(n)
    99.12(a)    		   418565  XM_416769.3  XP_416769.2 
    lizard
    (Anolis carolinensis)    		 Reptilia CASK6
    --
    (see all 3)    		 --
    		 99(a)
    25(a)
    (see all 3)    		 1 ↔ 1
    possible ortholog
    (see all 3)    		 3(134161935-134293543)
    GL344565.1(6101-23422)
    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
    61.48(n)1
    64.36(a)1    		   425671  NM_001170210.11  NP_001163681.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea lin-21 , 3 MAGUK protein, calcium/calmodulin dependent
    protein more3
    Protein LIN-21    		 46(a)3
    56.77(n)1
    52.85(a)1    		   X(12435214-12441087)3
    1814001  NM_001029416.11  NP_001024587.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G062006
    GK-16
    (see all 3)    		 guanylate kinase 1
    (see all 3)    		 17(a)
    13(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 3(1877594-1879348)
    2(17474619-17477223)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 guanylate kinase, putative, expressed
    		 15(a)
    11(a)
    		 possible ortholog
    possible ortholog
    		 3(11594171-11597778)
    12(20000190-20004313)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria gmk6
    		 guanylate kinase
    		 20(a)
    		 possible ortholog
    		 Chromosome(3819451-3820074)


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

    Paralogs
    for CASK gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CASK gene
    MPP62  MPP72  DLG32  MPP52  DLG22  MPP22  MPP42  DLG42  
    DLG12  MPP12  MPP32  
    18/53 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    MAPKAPK5    DKFZp666F1010    MPP2    KIAA0999    PHKG2
    PRKD1    DAPK3    NUAK1    PSKH2    STK11    PRKAA1

    CASK for paralogs           About GeneDecksing



    Genomic Variants
    for CASK gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3665 NCBI SNPs in CASK are shown (see all 3665)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378528201,2
    		Cpathogenic41448815(-) CTTCAC/TCACAA 6 P S mis11Minor allele frequency- T:0.00NA 4544
    rs1492226051,2
    		--41373699(+) CTGGGC/TGGAGC 3 -- ds50010--------
    rs2000438411,2
    		--41373852(+) TTTTC-/TTTTTT 3 -- ds50010--------
    rs2012985731,2
    		--41373856(+) CTTTT-/CTTTTT 3 -- ds50010--------
    rs1928035071,2
    		--41374011(+) GCCAGA/GAGCTG 3 -- ds50010--------
    rs1840944611,2
    		--41374093(+) CTCTGC/TAGAGG 3 -- ds50010--------
    rs1433211531,2
    		--41374128(+) TTCTTG/TTAACC 3 -- ds50010--------
    rs101261661,2
    		C,--41374379(+) GGCAGT/CGCACC 3 -- ut31 ese31Minor allele frequency- C:0.00WA 2
    rs32036421,2
    		C,F,O,A,H,--41374397(-) CGGAAT/CAACCA 3 -- ut3126Minor allele frequency- C:0.85MN NS EA NA CSA 3008
    rs1459673241,2
    		--41374428(+) GGATGA/GGAGGG 3 -- ut310--------

    HapMap Linkage Disequilibrium report for CASK (41374187 - 41624187 bp, first 250kb of CASK)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CASK
         1 CNV: 7787
         1 Indel: 41217
    Human Gene Mutation Database (HGMD): CASK

    Locus Specific Mutation Databases (LSDB): CASK

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    Disorders / Diseases
    for CASK gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CASK for disorders           About GeneDecksing

    OMIM gene information: 300172   
    OMIM disorders: 300749  300422  
    UniProtKB/Swiss-Prot: CSKP_HUMAN, O14936
  • Defects in CASK are the cause of 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 adaptative behavior and manifested during the developmental period. Patients with
    mental retardation X-linked CASK-related 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
  • Defects in CASK are the cause of FG syndrome type 4 (FGS4) [MIM:300422]. FG syndrome (FGS) is an X-linked
    • disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation

    20/33 diseases for CASK (see all 33):    About MalaCards
    mental retardation and microcephaly with pontine and cerebellar hypoplasia    cerebellar hypoplasia    fg syndrome 4    fg syndrome
    detrusor sphincter dyssynergia    tethered spinal cord syndrome    microcephaly    mental retardation, x-linked
    substernal goiter    neurogenic bladder    urethral obstruction    intellectual disability
    urethritis    optic atrophy    brain malformations    acute lymphoblastic leukemia
    lymphoblastic leukemia    nystagmus    constipation    cystitis

    4 diseases from the University of Copenhagen DISEASES database for CASK:
    FG syndrome     Microcephaly     Intellectual disability     Congenital nystagmus

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: CASK (1 document)

    Export disorders for CASK gene to outside databases

    Publications
    for CASK gene

    (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)
    About This Section

    PubMed articles for CASK gene, integrated from 9 sources (see all 103):
    (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. (1998)
    2. A missense mutation in CASK causes FG syndrome in an Italian family. (PubMed id 19200522)1, 2 Piluso G.... Nigro V. (2009)
    3. CASK Functions as a Mg2+-independent neurexin kinase. (PubMed id 18423203)1, 2 Mukherjee K....Wahl M.C. (2008)
    4. 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. (2008)
    5. Mapping and expression analysis of the human CASK gene. (PubMed id 11003712)1, 2 Stevenson D.... Wilson J.B. (2000)
    6. 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. (1998)
    7. 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. (1998)
    8. 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. (2009)
    9. The MAGUK-family protein CASK is targeted to nuclei of the basal epidermis and controls keratinocyte proliferation. (PubMed id 18664494)1, 9 Ojeh N....Maatta A. (2008)
    10. Association of junctional adhesion molecule with calcium/calmodulin-dependent serine protein kinase (CASK/LIN-2) in human epithelial caco-2 cells. (PubMed id 11120739)1, 9 Martinez-Estrada O.M....Bazzoni G. (2001)

    External Searches for CASK gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CASK gene

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

    Other Databases showing CASK gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CASK gene

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

    Intellectual Property
    for CASK gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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