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Aliases for CASK Gene

Aliases for CASK Gene

  • Calcium/Calmodulin Dependent Serine Protein Kinase 2 3 5
  • 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 61
  • HCASK 3 4
  • LIN2 3 4
  • 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 61
  • CAGH39 3
  • CAMGUK 3
  • MICPCH 3
  • MRXSNA 3
  • TNRC8 3
  • FGS4 3
  • CMG 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) 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 Syndecan-3-mediated signaling events and Neurotransmitter Release Cycle. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MPP1.

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

Enhancers for CASK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CASK on UCSC Golden Path with GeneCards custom track

Promoters for CASK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for CASK Gene

Chromosome:
X
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

Genes around CASK on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for CASK Gene

  • Ubiquitination at Lys 825
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CASK (CASK)

Domains & Families for CASK Gene

Graphical View of Domain Structure for InterPro Entry

O14936

UniProtKB/Swiss-Prot:

CSKP_HUMAN :
  • The first L27 domain binds DLG1 and the second L27 domain probably binds LIN7.
  • In the N-terminal section; belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
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:0004674 protein serine/threonine kinase activity IEA --
GO:0005515 protein binding IPI 9660868
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CASK: view
genes like me logo Genes that share phenotypes with CASK: view

Human Phenotype Ontology for CASK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CASK Gene

MGI Knock Outs for CASK:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for CASK

Flow Cytometry Products

No data available for Transcription Factor Targets 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
cytosol 5
nucleus 5
plasma membrane 5
cytoskeleton 4
extracellular 4
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 IEA --
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 & Interactions 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:0007269 neurotransmitter secretion TAS --
GO:0010839 negative regulation of keratinocyte proliferation IMP 18664494
genes like me logo Genes that share ontologies with CASK: view

No data available for SIGNOR curated interactions for CASK Gene

Drugs & Compounds for CASK Gene

(6) Drugs for CASK Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Formic acid Experimental Pharma Target 0
Magnesium Nutra 0

(2) Additional Compounds for CASK Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
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:

CRISPR Products

Clone Products

  • Addgene plasmids for CASK

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for CASK Gene

This gene is overexpressed in Salivary gland (9.5), Fetal Brain (7.4), and Frontal cortex (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CASK Gene



Protein tissue co-expression partners for CASK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CASK Gene:

CASK

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 expression patterns with CASK: view

Primer Products

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
cow
(Bos Taurus)
Mammalia CASK 34
  • 95.64 (n)
  • 99.89 (a)
CASK 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASK 34
  • 95.37 (n)
  • 99.89 (a)
CASK 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cask 34
  • 95.19 (n)
  • 99.89 (a)
Cask 16
Cask 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CASK 34
  • 99.78 (n)
  • 100 (a)
CASK 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cask 34
  • 94.72 (n)
  • 99.56 (a)
oppossum
(Monodelphis domestica)
Mammalia CASK 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 84 (a)
OneToMany
-- 35
  • 98 (a)
OneToMany
chicken
(Gallus gallus)
Aves CASK 34
  • 89.19 (n)
  • 99.53 (a)
CASK 35
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASK 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cask 34
  • 85.1 (n)
  • 98.58 (a)
Str.3488 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7674 34
zebrafish
(Danio rerio)
Actinopterygii cask 34
caska 34
  • 80.16 (n)
  • 94.2 (a)
caska 35
  • 95 (a)
OneToMany
caskb 35
  • 82 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Caki 36
  • 58 (a)
CG9326 36
  • 34 (a)
CASK 34
  • 61.4 (n)
  • 64.43 (a)
CASK 35
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001683 34
  • 60.24 (n)
  • 64.88 (a)
worm
(Caenorhabditis elegans)
Secernentea lin-2 36
  • 46 (a)
lin-2 34
  • 56.55 (n)
  • 52.61 (a)
lin-2 35
  • 48 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6914 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5598 35
  • 65 (a)
OneToOne
Species where no ortholog for CASK was found in the sources mined by GeneCards:
  • 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
VAR_041956 A lung large cell carcinoma sample
rs137852816 FG syndrome 4 (FGS4) 41,853,204(-) ACGAC(G/T)ATGTA reference, missense
rs137852817 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) 41,660,468(-) CTGTT(C/T)ATGAA reference, missense
rs137852820 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) 41,589,562(-) CTTCA(C/G/T)CACAA reference, missense
rs137852818 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) 41,542,717(-) CAAAG(A/G)TAAAT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv2282e212 CNV loss 25503493
dgv2283e212 CNV loss 25503493
esv1007793 CNV deletion 20482838
esv2740113 CNV deletion 23290073
esv33720 CNV loss 17666407
esv3573895 CNV loss 25503493
esv3573902 CNV loss 25503493
esv3573905 CNV loss 25503493
esv3573906 CNV loss 25503493
esv3576852 CNV gain 25503493
nsv1118389 CNV deletion 24896259
nsv471827 CNV novel sequence insertion 20440878
nsv508763 CNV insertion 20534489
nsv523134 CNV gain 19592680
nsv6875 CNV insertion 18451855

Variation tolerance for CASK Gene

Residual Variation Intolerance Score: 4.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASK Gene

Human Gene Mutation Database (HGMD)
CASK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASK

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

Disorders for CASK Gene

MalaCards: The human disease database

(10) MalaCards diseases for CASK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation and microcephaly with pontine and cerebellar hypoplasia
  • x-linked intellectual disability, najm type
fg syndrome 4
  • mental retardation, with or without nystagmus
x-linked intellectual disability with or without nystagmus
  • fg syndrome 4
x-linked intellectual disability, najm type
  • mental retardation and microcephaly with pontine and cerebellar hypoplasia
cask-related disorders
- elite association - COSMIC cancer census association via MalaCards
Search CASK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CSKP_HUMAN
  • 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.
  • 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.

Relevant External Links for CASK

Genetic Association Database (GAD)
CASK
Human Genome Epidemiology (HuGE) Navigator
CASK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASK
genes like me logo Genes that share disorders with CASK: view

No data available for Genatlas for CASK Gene

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 22 65
  2. Characterisation of the interaction between syndecan-2, neurofibromin and CASK: dependence of interaction on syndecan dimerization. (PMID: 20006588) Volta M. … Roberts R.G. (Biochem. Biophys. Res. Commun. 2010) 3 22 65
  3. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. (PMID: 20029458) Hackett A. … Abidi F.E. (Eur. J. Hum. Genet. 2010) 3 22 65
  4. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PMID: 19736351) Guilmatre A. … Campion D. (Arch. Gen. Psychiatry 2009) 3 46 65
  5. A missense mutation in CASK causes FG syndrome in an Italian family. (PMID: 19200522) Piluso G. … Nigro V. (Am. J. Hum. Genet. 2009) 3 4 65

Products for CASK Gene

Sources for CASK Gene

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