Human Gene CASK (ENST00000644219.1) Description and Page Index
  Description: calcium/calmodulin dependent serine protein kinase (from HGNC CASK)
RefSeq Summary (NM_001367721): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000644219.1
Gencode Gene: ENSG00000147044.21
Transcript (Including UTRs)
   Position: hg38 chrX:41,517,308-41,923,161 Size: 405,854 Total Exon Count: 26 Strand: -
Coding Region
   Position: hg38 chrX:41,520,420-41,922,988 Size: 402,569 Coding Exon Count: 26 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviews
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:41,517,308-41,923,161)mRNA (may differ from genome)Protein (920 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneCardsHGNC
LynxMGIPubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: CASK
Diseases sorted by gene-association score: mental retardation and microcephaly with pontine and cerebellar hypoplasia* (1597), fg syndrome 4* (1239), x-linked intellectual disability with or without nystagmus* (500), x-linked intellectual disability, najm type* (500), cask-related disorders* (100), epileptic encephalopathy, early infantile, 15* (90), cerebellar hypoplasia (29), microcephaly (9), lung large cell carcinoma (6), miller fisher syndrome (6), intellectual disability (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.49 RPKM in Small Intestine - Terminal Ileum
Total median expression: 156.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -86.40173-0.499 Picture PostScript Text
3' UTR -803.203112-0.258 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  KJ892566 - Synthetic construct Homo sapiens clone ccsbBroadEn_01960 CASK gene, encodes complete protein.
KR711631 - Synthetic construct Homo sapiens clone CCSBHm_00027897 CASK (CASK) mRNA, encodes complete protein.
KR711632 - Synthetic construct Homo sapiens clone CCSBHm_00027899 CASK (CASK) mRNA, encodes complete protein.
AF035582 - Homo sapiens CASK mRNA, complete cds.
BC035990 - Homo sapiens, similar to calcium/calmodulin-dependent serine protein kinase, clone IMAGE:4334367, mRNA.
AB208859 - Homo sapiens mRNA for calcium/calmodulin-dependent serine protein kinase (MAGUK family) variant protein.
AB039327 - Homo sapiens CASK mRNA for calcium/calmodulin-dependent serine protein kinase, complete cds.
AF262404 - Homo sapiens clone phi7 calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase (CASK) mRNA, partial cds.
AF262405 - Homo sapiens clone phi9 calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase (CASK) mRNA, partial cds.
AF032119 - Homo sapiens hCASK (CASK) mRNA, complete cds.
AY705392 - Homo sapiens calcium/calmodulin-dependent serine protein kinase mRNA, complete cds.
BC117311 - Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family), mRNA (cDNA clone MGC:150920 IMAGE:40125862), complete cds.
BC143454 - Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family), mRNA (cDNA clone MGC:176979 IMAGE:9051962), complete cds.
BC143456 - Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family), mRNA (cDNA clone MGC:176981 IMAGE:9051964), complete cds.
AK313399 - Homo sapiens cDNA, FLJ93934.
HQ258518 - Synthetic construct Homo sapiens clone IMAGE:100072947 calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 2 (CASK) gene, encodes complete protein.
AB590064 - Synthetic construct DNA, clone: pFN21AB3164, Homo sapiens CASK gene for calcium/calmodulin-dependent serine protein kinase, without stop codon, in Flexi system.
AK056476 - Homo sapiens cDNA FLJ31914 fis, clone NT2RP7004884.
JD171297 - Sequence 152321 from Patent EP1572962.
JD510448 - Sequence 491472 from Patent EP1572962.
JD099466 - Sequence 80490 from Patent EP1572962.
JD123580 - Sequence 104604 from Patent EP1572962.
JD544857 - Sequence 525881 from Patent EP1572962.
LN607837 - Homo sapiens partial mRNA for calcium/calmodulin-dependent serin protein kinase (CASK gene).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04530 - Tight junction

BioCarta from NCI Cancer Genome Anatomy Project
h_PDZsPathway - Synaptic Proteins at the Synaptic Junction

-  Other Names for This Gene
  Alternate Gene Symbols: A0A2R8YE77, AB208859, uc286cxj.1
UCSC ID: uc286cxj.1
RefSeq Accession: NM_001367721
CCDS: CCDS14257.1, CCDS48094.1, CCDS48095.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CASK:
cask-dis (CASK-Related Disorders)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.