Human Gene CAPN9 (ENST00000354537.1) from GENCODE V44
  Description: Homo sapiens calpain 9 (CAPN9), transcript variant 2, mRNA. (from RefSeq NM_016452)
RefSeq Summary (NM_006615): Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000354537.1
Gencode Gene: ENSG00000135773.13
Transcript (Including UTRs)
   Position: hg38 chr1:230,747,415-230,802,003 Size: 54,589 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg38 chr1:230,747,497-230,801,596 Size: 54,100 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:230,747,415-230,802,003)mRNA (may differ from genome)Protein (664 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CAN9_HUMAN
DESCRIPTION: RecName: Full=Calpain-9; EC=3.4.22.-; AltName: Full=Digestive tract-specific calpain; AltName: Full=New calpain 4; Short=nCL-4; AltName: Full=Protein CG36;
FUNCTION: Calcium-regulated non-lysosomal thiol-protease (By similarity).
CATALYTIC ACTIVITY: Broad endopeptidase specificity.
TISSUE SPECIFICITY: Expressed predominantly in stomach.
INDUCTION: Down-regulated in gastric cancer tissue and in gastric cell lines of differentiated and poorly differentiated types.
SIMILARITY: Belongs to the peptidase C2 family.
SIMILARITY: Contains 1 calpain catalytic domain.
SIMILARITY: Contains 3 EF-hand domains.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/capn9/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CAPN9
Diseases sorted by gene-association score: gastric cancer, somatic (1)

-  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: 12.30 RPKM in Stomach
Total median expression: 44.29 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.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.4182-0.139 Picture PostScript Text
3' UTR -99.80407-0.245 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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022684 - Calpain_cysteine_protease
IPR022682 - Calpain_domain_III
IPR022683 - Calpain_III
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR000169 - Pept_cys_AS
IPR001300 - Peptidase_C2_calpain_cat

Pfam Domains:
PF01067 - Calpain large subunit, domain III
PF00648 - Calpain family cysteine protease

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1ZIV - X-ray MuPIT 2P0R - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O14815
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-  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     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004198 calcium-dependent cysteine-type endopeptidase activity
GO:0005509 calcium ion binding
GO:0008233 peptidase activity
GO:0008234 cysteine-type peptidase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006508 proteolysis
GO:0007586 digestion

Cellular Component:
GO:0005575 cellular_component
GO:0005622 intracellular
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF022799 - Homo sapiens digestive tract-specific calpain (nCL-4) mRNA, complete cds.
JD132976 - Sequence 114000 from Patent EP1572962.
AK313629 - Homo sapiens cDNA, FLJ94200, highly similar to Homo sapiens calpain 9 (nCL-4) (CAPN9), mRNA.
AB038463 - Homo sapiens GC36 mRNA, complete cds.
BC027993 - Homo sapiens calpain 9, mRNA (cDNA clone MGC:39972 IMAGE:5173512), complete cds.
AK298024 - Homo sapiens cDNA FLJ52338 complete cds, highly similar to Calpain-9 (EC 3.4.22.-).
JD141399 - Sequence 122423 from Patent EP1572962.
JD190355 - Sequence 171379 from Patent EP1572962.
KJ902151 - Synthetic construct Homo sapiens clone ccsbBroadEn_11545 CAPN9 gene, encodes complete protein.
AK309039 - Homo sapiens cDNA, FLJ99080.
JD557868 - Sequence 538892 from Patent EP1572962.
JD040481 - Sequence 21505 from Patent EP1572962.
JD425986 - Sequence 407010 from Patent EP1572962.
JD187317 - Sequence 168341 from Patent EP1572962.
JD457034 - Sequence 438058 from Patent EP1572962.
JD418258 - Sequence 399282 from Patent EP1572962.
JD395056 - Sequence 376080 from Patent EP1572962.
JD407169 - Sequence 388193 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O14815 (Reactome details) participates in the following event(s):

R-HSA-8848658 CAPN:4xCa2+:CAPNS cleave cytoskeletal proteins
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: B1APS1, B1AQI0, CAN9_HUMAN, NCL4, NM_016452, O14815, Q9NS74, uc001hua.1, uc001hua.2
UCSC ID: ENST00000354537.1
RefSeq Accession: NM_006615
Protein: O14815 (aka CAN9_HUMAN)
CCDS: CCDS1586.1, CCDS31053.1

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