Human Gene CAST (uc010jbl.2) Description and Page Index
  Description: Homo sapiens calpastatin (CAST), transcript variant 12, non-coding RNA.
RefSeq Summary (NM_173060): The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010].
Transcript (Including UTRs)
   Position: hg19 chr5:96,079,244-96,109,116 Size: 29,873 Total Exon Count: 18 Strand: +


Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:96,079,244-96,109,116)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneNetwork
H-INVHGNCLynxOMIMPubMedStanford SOURCE
Wikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CAST
CDC HuGE Published Literature: CAST
Positive Disease Associations: Alcohol dependence , blood pressure, arterial hypertension , Hodgkin Disease , Parkinson Disease , Psoriasis , Respiratory Function Tests
Related Studies:
  1. Alcohol dependence
    Treutlein ,et al. 2009, Genome-wide association study of alcohol dependence, Archives of general psychiatry 2009 66- 7 : 773-84. [PubMed 19581569]
  2. blood pressure, arterial hypertension
    Kokubo, Y. et al. 2006, Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension, Hypertens Res 2006 29(8) 611-9. [PubMed 17137217]
  3. Hodgkin Disease
    Kevin Y Urayama et al. Journal of the National Cancer Institute 2012, Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups., Journal of the National Cancer Institute. [PubMed 22286212]
    Overall, these results provide strong evidence that EBV status is an etiologically important classification of cHL and also suggest that some components of the pathological process are common to both EBV-positive and EBV-negative patients.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CAST
Diseases sorted by gene-association score: peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads* (1270), cheilitis (31)
* = 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: 61.32 RPKM in Esophagus - Mucosa
Total median expression: 988.61 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AB208816 - Homo sapiens mRNA for calpastatin isoform a variant protein.
KX533486 - Homo sapiens calpastatin (CAST) mRNA, complete cds.
AK296919 - Homo sapiens cDNA FLJ56102 complete cds, highly similar to Homo sapiens calpastatin (CAST), transcript variant 8, mRNA.
AK299384 - Homo sapiens cDNA FLJ53909 complete cds, moderately similar to Calpastatin.
D16217 - Homo sapiens CAST mRNA for calpastatin, complete cds.
AL832349 - Homo sapiens mRNA; cDNA DKFZp451B196 (from clone DKFZp451B196).
AK303900 - Homo sapiens cDNA FLJ52045 complete cds, highly similar to Homo sapiens calpastatin (CAST), transcript variant 5, mRNA.
AK314290 - Homo sapiens cDNA, FLJ95046.
AK315146 - Homo sapiens cDNA, FLJ96117, highly similar to Homo sapiens calpastatin (CAST), transcript variant 4, mRNA.
AK299402 - Homo sapiens cDNA FLJ50632 complete cds, highly similar to Calpastatin.
AK298541 - Homo sapiens cDNA FLJ56123 complete cds, highly similar to Calpastatin.
AK300624 - Homo sapiens cDNA FLJ50686 complete cds, highly similar to Calpastatin.
AL832174 - Homo sapiens mRNA; cDNA DKFZp686K2216 (from clone DKFZp686K2216).
BX648397 - Homo sapiens mRNA; cDNA DKFZp686N07213 (from clone DKFZp686N07213).
AK303836 - Homo sapiens cDNA FLJ52193 complete cds, highly similar to Calpastatin.
AK297879 - Homo sapiens cDNA FLJ59277 complete cds, highly similar to Calpastatin.
AB527289 - Synthetic construct DNA, clone: pF1KB9389, Homo sapiens CAST gene for calpastatin, without stop codon, in Flexi system.
AM393425 - Synthetic construct Homo sapiens clone IMAGE:100002556 for hypothetical protein (CAST gene).
AM393434 - Synthetic construct Homo sapiens clone IMAGE:100002280 for hypothetical protein (CAST gene).
E02261 - cDNA encoding Homo sapiens calpastatin.
DQ894668 - Synthetic construct Homo sapiens clone IMAGE:100009128; FLH177344.01L; RZPDo839G07123D calpastatin (CAST) gene, encodes complete protein.
BT009783 - Homo sapiens calpastatin mRNA, complete cds.
DQ891479 - Synthetic construct clone IMAGE:100004109; FLH177347.01X; RZPDo839G07124D calpastatin (CAST) gene, encodes complete protein.
AF327443 - Homo sapiens calpastatin mRNA, complete cds.
E02134 - cDNA encoding human carbastatin containing 4 functional units.
BC078149 - Homo sapiens calpastatin, mRNA (cDNA clone IMAGE:6070772), partial cds.
U26724 - Homo sapiens calpastatin (BS-17) mRNA, complete cds.
MF577037 - Homo sapiens clone hcast 3-25 calpastatin (CAST) mRNA, partial cds.
MK585065 - Homo sapiens calpastatin (CAST) mRNA, complete cds.
U31345 - Human calpastatin mRNA, partial cds, short 3'UTR.
AY189741 - Homo sapiens calpastatin (CAST) mRNA, partial cds; alternatively spliced.
AK311585 - Homo sapiens cDNA, FLJ18627.
AK311598 - Homo sapiens cDNA, FLJ18640.
AK302206 - Homo sapiens cDNA FLJ55287 complete cds, highly similar to Calpastatin.
AK292289 - Homo sapiens cDNA FLJ77693 complete cds, highly similar to Homo sapiens calpastatin (CAST), transcript variant 3, mRNA.
AK292356 - Homo sapiens cDNA FLJ77737 complete cds, highly similar to Homo sapiens calpastatin (CAST), transcript variant 3, mRNA.
U58996 - Homo sapiens testis calpastatin mRNA, complete cds.
AK315673 - Homo sapiens cDNA, FLJ96767, highly similar to Homo sapiens calpastatin (CAST), transcript variant 3, mRNA.
JD266791 - Sequence 247815 from Patent EP1572962.
JD180779 - Sequence 161803 from Patent EP1572962.
JD174524 - Sequence 155548 from Patent EP1572962.
U38525 - Human placental calpastatin mRNA, partial cds.
U31346 - Human calpastatin mRNA, partial cds, long 3'UTR.
S73329 - calpastatin=glycoprotein BS-17 component {3' region} [human, sperm, mRNA Partial, 758 nt].
D50827 - Homo sapiens mRNA for calpastatin, partial cds.
AF095891 - Homo sapiens calpastatin mRNA, partial cds and 3' UTR.
AK098137 - Homo sapiens cDNA FLJ40818 fis, clone TRACH2010698.
JD228770 - Sequence 209794 from Patent EP1572962.
JD283561 - Sequence 264585 from Patent EP1572962.
JD420833 - Sequence 401857 from Patent EP1572962.
JD280615 - Sequence 261639 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_173060, NR_033798
UCSC ID: uc010jbl.2
RefSeq Accession: NM_173060

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: yes RNA accession: NR_033798.1
exon count: 18CDS single in 3' UTR: no RNA size: 1809
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2392.00frame shift in genome: no % Coverage: 99.45
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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