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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 58
  • 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 58
  • 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, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

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 Sertoli-Sertoli Cell Junction Dynamics and Syndecan-2-mediated signaling events. 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

Additional gene information for CASK Gene

No data available for CIViC summary , 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
GH0XH041822 0.8 ENCODE 18.1 +99.9 99915 1 HDAC1 FOXA2 TCF12 GATA2 EGR1 EGR2 ZEB2 KLF16 GLIS1 CEBPA CASK ENSG00000237875 RNU6-202P GPR34
GH0XH042093 1 Ensembl ENCODE 6.2 -172.0 -171999 4 HDAC1 ATF1 CEBPG EBF1 ZNF7 RELA FOSL1 NFE2 RUNX3 CREM RNU6-630P CASK GC0XM042099 GC0XM042076
GH0XH041718 0.9 Ensembl ENCODE 5.3 +203.9 203911 2 RFX1 BCL11A POLR2A EED IKZF1 DPF2 RUNX3 SETDB1 CASK GPR82 GPR34
GH0XH041867 0.7 ENCODE 5.5 +53.5 53535 4 ELF3 SOX13 FOXA2 CEBPG ZSCAN5C CREM GATAD2A SOX5 NFIA FOXA3 GPR34 CASK RNU6-202P ENSG00000237875
GH0XH041920 1.2 FANTOM5 ENCODE 2.9 +0.6 633 4 ATF1 SIN3A GLIS2 ATF7 RUNX3 DEK SP3 SP5 SMARCB1 HNF4A GPR34 CASK RNU6-202P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000246079 462 3599 ATF1 SIN3A GLIS2 RUNX3 DEK SP3 SP5 SMARCB1 STAT3 HNF4A

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

Selected DME Specific Peptides for CASK Gene

O14936:
  • QIISKDDH
  • QQFAVKIVDVAKFT
  • SAKDLVR
  • AYPIPHTTRP
  • DVYELCEVIGKGPFS
  • VTRVRLVQFQKNTDEPMGITLKM
  • TLHVGDEIREING
  • DKYLAKHNA
  • PYGKPVD
  • NSAPVKLGGFG
  • GMLYMVFEFM
  • CIVARIMHGGMIHRQ
  • EALRVTPPP
  • AILDVEPQALK
  • NEYLEYG
  • TFKIVPSYR
  • HEDAMYGTKL
  • RKTLVLLGAHGVGRRHIKNTLI
  • PQWVPVSW
  • FNARRKL
  • AGLIPSPELQEWR
  • QILEALRY
  • AGFVYSEAVA
  • YYFVSHD
  • ICHMLKHPHIVELLETYSS
  • VVFIAAP

Post-translational modifications for CASK Gene

  • Ubiquitination at posLast=825825
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Domains & Families for CASK Gene

Gene Families for CASK Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

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.
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 IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005515 protein binding IPI 9660868
GO:0005516 calmodulin 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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CASK
  • Applied Biological Materials Clones for CASK
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CASK gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 4
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

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 IEA,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

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
Formic acid Experimental Pharma Target 0
ATP Nutra Agonist 0
Magnesium Nutra 0

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

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CASK
  • Applied Biological Materials Clones for CASK
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for CASK Gene

  • Nervous system(4.8)
  • Kidney(4.4)
  • Liver(4.3)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CASK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
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
chimpanzee
(Pan troglodytes)
Mammalia CASK 33 34
  • 99.78 (n)
oppossum
(Monodelphis domestica)
Mammalia CASK 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 98 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CASK 33 34
  • 95.64 (n)
dog
(Canis familiaris)
Mammalia CASK 33 34
  • 95.37 (n)
mouse
(Mus musculus)
Mammalia Cask 33 16 34
  • 95.19 (n)
rat
(Rattus norvegicus)
Mammalia Cask 33
  • 94.72 (n)
chicken
(Gallus gallus)
Aves CASK 33 34
  • 89.19 (n)
lizard
(Anolis carolinensis)
Reptilia CASK 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cask 33
  • 85.1 (n)
Str.3488 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7674 33
zebrafish
(Danio rerio)
Actinopterygii caskb 34
  • 82 (a)
OneToMany
caska 33 34
  • 80.16 (n)
cask 33
fruit fly
(Drosophila melanogaster)
Insecta CASK 33 34
  • 61.4 (n)
Caki 35
  • 58 (a)
CG9326 35
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001683 33
  • 60.24 (n)
worm
(Caenorhabditis elegans)
Secernentea lin-2 35 33 34
  • 56.55 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5598 34
  • 65 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6914 33
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

Variants for CASK Gene

Sequence variations from dbSNP and Humsavar for CASK Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs137852816 Pathogenic, FG syndrome 4 (FGS4) [MIM:300422] 41,853,204(-) ACGAC(G/T)ATGTA reference, missense
rs137852817 Pathogenic, Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] 41,660,468(-) CTGTT(C/T)ATGAA reference, missense
rs137852818 Pathogenic, Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] 41,542,717(-) CAAAG(A/G)TAAAT reference, missense
rs137852820 Pathogenic, Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] 41,589,562(-) CTTCA(C/G/T)CACAA reference, missense
VAR_041956 A lung large cell carcinoma sample

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

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

Disorder Aliases PubMed IDs
mental retardation and microcephaly with pontine and cerebellar hypoplasia
  • syndromic 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 AR … Wood DF (The Journal of cell biology 1998) 3 4 22 60
  2. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. (PMID: 20029458) Hackett A … Abidi FE (European journal of human genetics : EJHG 2010) 3 22 60
  3. Characterisation of the interaction between syndecan-2, neurofibromin and CASK: dependence of interaction on syndecan dimerization. (PMID: 20006588) Volta M … Roberts RG (Biochemical and biophysical research communications 2010) 3 22 60
  4. Calcium/calmodulin-dependent serine protein kinase and mental retardation. (PMID: 19847910) Hsueh YP (Annals of neurology 2009) 3 22 60
  5. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PMID: 19736351) Guilmatre A … Campion D (Archives of general psychiatry 2009) 3 45 60

Products for CASK Gene

  • Addgene plasmids for CASK

Sources for CASK Gene

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