Human Gene CAPN12 (ENST00000328867.9_7) from GENCODE V47lift37
  Description: calpain 12 (from RefSeq NM_144691.4)
Gencode Transcript: ENST00000328867.9_7
Gencode Gene: ENSG00000182472.9_16
Transcript (Including UTRs)
   Position: hg19 chr19:39,220,832-39,235,114 Size: 14,283 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg19 chr19:39,221,492-39,234,805 Size: 13,314 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:39,220,832-39,235,114)mRNA (may differ from genome)Protein (719 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CAN12_HUMAN
DESCRIPTION: RecName: Full=Calpain-12; EC=3.4.22.-; AltName: Full=Calcium-activated neutral proteinase 12; Short=CANP 12;
FUNCTION: Calcium-regulated non-lysosomal thiol-protease (By similarity).
CATALYTIC ACTIVITY: Broad endopeptidase specificity.
SIMILARITY: Belongs to the peptidase C2 family.
SIMILARITY: Contains 1 calpain catalytic domain.
SIMILARITY: Contains 1 EF-hand domain.

-  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: CAPN12
Diseases sorted by gene-association score: autosomal recessive congenital ichthyosis (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.52 RPKM in Liver
Total median expression: 34.33 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -99.10309-0.321 Picture PostScript Text
3' UTR -215.00660-0.326 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
IPR000169 - Pept_cys_AS
IPR001300 - Peptidase_C2_calpain_cat

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

SCOP Domains:
47473 - EF-hand
49758 - Calpain large subunit, middle domain (domain III)
54001 - Cysteine proteinases

ModBase Predicted Comparative 3D Structure on Q6ZSI9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
Gene DetailsGene Details    
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-  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

Cellular Component:
GO:0005622 intracellular
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC040022 - Homo sapiens calpain 12, mRNA (cDNA clone IMAGE:3854861), with apparent retained intron.
LF322047 - JP 2014500723-A/129550: Polycomb-Associated Non-Coding RNAs.
BC014027 - Homo sapiens calpain 12, mRNA (cDNA clone IMAGE:4300206), partial cds.
JD038218 - Sequence 19242 from Patent EP1572962.
AK125713 - Homo sapiens cDNA FLJ43725 fis, clone TESOP2007978, moderately similar to Mus musculus Capn12 gene for calpain 12.
JD170725 - Sequence 151749 from Patent EP1572962.
AK127398 - Homo sapiens cDNA FLJ45489 fis, clone BRTHA2005448, highly similar to Mus musculus calpain 12 (Capn12).
JD278238 - Sequence 259262 from Patent EP1572962.
BC153093 - Synthetic construct Homo sapiens clone IMAGE:100016452, MGC:184231 calpain 12 (CAPN12) mRNA, encodes complete protein.
BC140397 - Synthetic construct Homo sapiens clone IMAGE:100014486, MGC:173158 calpain 12 (CAPN12) mRNA, encodes complete protein.
AB527122 - Synthetic construct DNA, clone: pF1KE0354, Homo sapiens CAPN12 gene for calpain 12, without stop codon, in Flexi system.
AK094707 - Homo sapiens cDNA FLJ37388 fis, clone BRAMY2026713.
JD182761 - Sequence 163785 from Patent EP1572962.
LF207580 - JP 2014500723-A/15083: Polycomb-Associated Non-Coding RNAs.
JD138776 - Sequence 119800 from Patent EP1572962.
JD532917 - Sequence 513941 from Patent EP1572962.
JD157999 - Sequence 139023 from Patent EP1572962.
LF367261 - JP 2014500723-A/174764: Polycomb-Associated Non-Coding RNAs.
JD538184 - Sequence 519208 from Patent EP1572962.
JD079095 - Sequence 60119 from Patent EP1572962.
JD428147 - Sequence 409171 from Patent EP1572962.
JD152903 - Sequence 133927 from Patent EP1572962.
JD416846 - Sequence 397870 from Patent EP1572962.
MA557624 - JP 2018138019-A/129550: Polycomb-Associated Non-Coding RNAs.
MA602838 - JP 2018138019-A/174764: Polycomb-Associated Non-Coding RNAs.
MA443157 - JP 2018138019-A/15083: Polycomb-Associated Non-Coding RNAs.

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

Protein Q6ZSI9 (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: CAN12_HUMAN, ENST00000328867.1, ENST00000328867.2, ENST00000328867.3, ENST00000328867.4, ENST00000328867.5, ENST00000328867.6, ENST00000328867.7, ENST00000328867.8, NM_144691, Q6ZSI9, uc317sph.1, uc317sph.2
UCSC ID: ENST00000328867.9_7
RefSeq Accession: NM_144691.4
Protein: Q6ZSI9 (aka CAN12_HUMAN)

-  Gene Model Information
  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.