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Aliases for CASK Gene

Aliases for CASK Gene

  • Calcium/Calmodulin-Dependent Serine Protein Kinase (MAGUK Family) 2 3
  • Trinucleotide Repeat Containing 8 2 3
  • Protein Lin-2 Homolog 3 4
  • EC 2.7.11.1 4 63
  • MICPCH 3 6
  • MRXSNA 3 6
  • HCASK 3 4
  • FGS4 3 6
  • LIN2 3 4
  • CMG 3 6
  • Calcium/Calmodulin-Dependent Serine Protein Kinase Membrane-Associated Guanylate Kinase 3
  • Calcium/Calmodulin-Dependent Serine Protein Kinase 4
  • Calcium/Calmodulin-Dependent Serin Protein Kinase 3
  • Peripheral Plasma Membrane Protein CASK 3
  • EC 2.7.11 63
  • CAGH39 3
  • CAMGUK 3
  • TNRC8 3

External Ids for CASK Gene

Previous HGNC Symbols for CASK Gene

  • TNRC8

Previous GeneCards Identifiers for CASK Gene

  • GC0XM039406
  • GC0XM039627
  • GC0XM040223
  • GC0XM040409
  • GC0XM041134
  • GC0XM041259
  • GC0XM041374
  • GC0XM039105

Summaries for CASK Gene

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 mental retardation and microcephaly with pontine and cerebellar hypoplasia and fg syndrome 4. Among its related pathways are Degradation of the extracellular matrix and Non-integrin membrane-ECM interactions. GO annotations related to this gene include protein serine/threonine kinase activity and neurexin family protein binding. An important paralog of this gene is MPP6.

UniProtKB/Swiss-Prot for CASK Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASK Gene

Genomics for CASK Gene

Regulatory Elements for CASK Gene

Genomic Location for CASK Gene

Start:
41,514,934 bp from pter
End:
41,923,463 bp from pter
Size:
408,530 bases
Orientation:
Minus strand

Genomic View for CASK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CASK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASK Gene

Proteins for CASK Gene

  • Protein details for CASK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14936-CSKP_HUMAN
    Recommended name:
    Peripheral plasma membrane protein CASK
    Protein Accession:
    O14936
    Secondary Accessions:
    • A6NES1
    • B7ZKY0
    • O43215
    • Q17RI4
    • Q59HA0
    • Q5VT16
    • Q5VT17
    • Q5VT18
    • Q5VT19
    • Q66T42
    • Q9BYH6
    • Q9NYB2
    • Q9NYB3

    Protein attributes for CASK Gene

    Size:
    926 amino acids
    Molecular mass:
    105123 Da
    Cofactor:
    Note=Unlike other protein kinases, does not require a divalent cation such as magnesium for catalytic activity.;
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for CASK Gene

    Alternative splice isoforms for CASK Gene

neXtProt entry for CASK Gene

Proteomics data for CASK Gene at MOPED

Post-translational modifications for CASK Gene

  • Ubiquitination at Lys825
  • Modification sites at PhosphoSitePlus

Other Protein References for CASK Gene

Domains for CASK Gene

Graphical View of Domain Structure for InterPro Entry

O14936

UniProtKB/Swiss-Prot:

CSKP_HUMAN :
  • O14936
Domain:
  • The first L27 domain binds DLG1 and the second L27 domain probably binds LIN7.
  • The protein kinase domain mediates the interaction with FCHSD2
  • Contains 1 guanylate kinase-like domain.
  • Contains 2 L27 domains.
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 protein kinase domain.
  • Contains 1 SH3 domain.
Family:
  • In the N-terminal section; belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with CASK: view

Function for CASK Gene

Molecular function for CASK Gene

GENATLAS Biochemistry: membrane associated guanylate kinase,Drosophila CAMGUK homolog,expressed in synaptic membranes of the central nervous system
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=563 uM for ATP {ECO:0000269 PubMed:18423203}; Note=Kinetics of autophosphorylation assay were measured, rather than phosphorylation of an exogenous substrate.;
UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot EnzymeRegulation: 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.
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for CASK Gene

Gene Ontology (GO) - Molecular Function for CASK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004385 guanylate kinase activity TAS 9660868
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
GO:0005515 protein binding IPI 11377421
genes like me logo Genes that share ontologies with CASK: view
genes like me logo Genes that share phenotypes with CASK: view

Animal Models for CASK Gene

MGI Knock Outs for CASK:

miRNA for CASK Gene

miRTarBase miRNAs that target CASK

No data available for Transcription Factor Targeting and HOMER Transcription for CASK Gene

Localization for CASK Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASK Gene

Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASK Gene COMPARTMENTS Subcellular localization image for CASK gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
nucleus 4
cytosol 3
extracellular 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CASK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 colocalizes_with basement membrane IDA 18664494
GO:0005634 nucleus --
GO:0005652 nuclear lamina IDA 18664494
GO:0005730 nucleolus IDA 18664494
GO:0005737 cytoplasm IDA 18664494
genes like me logo Genes that share ontologies with CASK: view

Pathways for CASK Gene

genes like me logo Genes that share pathways with CASK: view

Pathways by source for CASK Gene

Gene Ontology (GO) - Biological Process for CASK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001953 negative regulation of cell-matrix adhesion IMP 18664494
GO:0006468 protein phosphorylation IEA --
GO:0007155 cell adhesion TAS 9660868
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
genes like me logo Genes that share ontologies with CASK: view

Compounds for CASK Gene

(3) HMDB Compounds for CASK Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4

(1) Drugbank Compounds for CASK Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Formic Acid
  • Aminic acid
64-18-6 target

(4) Novoseek inferred chemical compound relationships for CASK Gene

Compound -log(P) Hits PubMed IDs
guanylate 78.1 11
serine 63.4 23
calcium 47.2 22
tyrosine 0.938 1
genes like me logo Genes that share compounds with CASK: view

Transcripts for CASK Gene

Unigene Clusters for CASK Gene

Calcium/calmodulin-dependent serine protein kinase (MAGUK family):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CASK Gene

No ASD Table

Relevant External Links for CASK Gene

GeneLoc Exon Structure for
CASK
ECgene alternative splicing isoforms for
CASK

Expression for CASK Gene

mRNA expression in normal human tissues for CASK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CASK Gene

SOURCE GeneReport for Unigene cluster for CASK Gene Hs.495984

mRNA Expression by UniProt/SwissProt for CASK Gene

O14936-CSKP_HUMAN
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.
genes like me logo Genes that share expressions with CASK: view

No data available for mRNA differential expression in normal tissues for CASK Gene

Orthologs for CASK Gene

This gene was present in the common ancestor of animals.

Orthologs for CASK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASK 35
  • 99.78 (n)
  • 100 (a)
CASK 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CASK 35
  • 95.64 (n)
  • 99.89 (a)
CASK 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASK 35
  • 95.37 (n)
  • 99.89 (a)
CASK 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cask 35
  • 95.19 (n)
  • 99.89 (a)
Cask 16
Cask 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CASK 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cask 35
  • 94.72 (n)
  • 99.56 (a)
chicken
(Gallus gallus)
Aves CASK 35
  • 89.19 (n)
  • 99.53 (a)
CASK 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASK 36
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7674 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cask 35
  • 85.1 (n)
  • 98.58 (a)
Str.3488 35
zebrafish
(Danio rerio)
Actinopterygii cask 35
caska 35
  • 80.16 (n)
  • 94.2 (a)
caska 36
  • 95 (a)
OneToMany
caskb 36
  • 82 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001683 35
  • 60.24 (n)
  • 64.88 (a)
fruit fly
(Drosophila melanogaster)
Insecta CASK 35
  • 61.4 (n)
  • 64.43 (a)
CASK 36
  • 62 (a)
OneToOne
CG9326 37
  • 34 (a)
Caki 37
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea lin-2 35
  • 56.55 (n)
  • 52.61 (a)
lin-2 36
  • 48 (a)
OneToOne
lin-2 37
  • 46 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6914 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5598 36
  • 65 (a)
OneToOne
Species with no ortholog for CASK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CASK Gene

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

Paralogs for CASK Gene

Paralogs for CASK Gene

genes like me logo Genes that share paralogs with CASK: view

Variants for CASK Gene

Sequence variations from dbSNP and Humsavar for CASK Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs391655 -- 41,757,202(-) TTTTT(A/T)AAAAA intron-variant
rs391978 -- 41,744,053(+) TGCAG(A/T)AAGCT intron-variant
rs400971 -- 41,753,780(-) GCCTC(C/T)GGAGT intron-variant
rs413299 -- 41,753,667(-) CTCAA(A/G)TGATC intron-variant
rs418385 -- 41,738,615(-) CAAGA(C/T)ATATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASK Gene

Variant ID Type Subtype PubMed ID
esv33720 CNV Loss 17666407
nsv508763 CNV Insertion 20534489
nsv523134 CNV Gain 19592680
esv2740113 CNV Deletion 23290073
nsv6875 CNV Insertion 18451855
esv1007793 CNV Deletion 20482838

Relevant External Links for CASK Gene

HapMap Linkage Disequilibrium report
CASK
Human Gene Mutation Database (HGMD)
CASK
Locus Specific Mutation Databases (LSDB)
CASK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASK Gene

Disorders for CASK Gene

(2) OMIM Diseases for CASK Gene (300172)

UniProtKB/Swiss-Prot

CSKP_HUMAN
  • 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. {ECO:0000269 PubMed:19165920, ECO:0000269 PubMed:19377476}. 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. {ECO:0000269 PubMed:19200522}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for CASK Gene

Disease -log(P) Hits PubMed IDs
mental retardation 18.6 4

Relevant External Links for CASK

Genetic Association Database (GAD)
CASK
Human Genome Epidemiology (HuGE) Navigator
CASK
genes like me logo Genes that share disorders with CASK: view

Publications for CASK Gene

  1. Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells. (PMID: 9660868) Cohen A.R. … Anderson J.M. (J. Cell Biol. 1998) 3 4 23
  2. Association of junctional adhesion molecule with calcium/calmodulin-dependent serine protein kinase (CASK/LIN-2) in human epithelial caco-2 cells. (PMID: 11120739) Martinez-Estrada O.M. … Bazzoni G. (J. Biol. Chem. 2001) 3 23
  3. Association of neuronal calcium channels with modular adaptor proteins. (PMID: 10455105) Maximov A. … Bezprozvanny I. (J. Biol. Chem. 1999) 3 23
  4. hCASK and hDlg associate in epithelia, and their src homology 3 and guanylate kinase domains participate in both intramolecular and intermolecular interactions. (PMID: 10993877) Nix S.L. … Walther Z. (J. Biol. Chem. 2000) 3 23
  5. Mints as adaptors. Direct binding to neurexins and recruitment of munc18. (PMID: 11036064) Biederer T. … SA1dhof T.C. (J. Biol. Chem. 2000) 3 23

Products for CASK Gene

  • Addgene plasmids for CASK

Sources for CASK Gene

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