Human Gene CAPN6 (ENST00000324068.2_7) from GENCODE V47lift37
  Description: calpain 6 (from RefSeq NM_014289.4)
Gencode Transcript: ENST00000324068.2_7
Gencode Gene: ENSG00000077274.9_9
Transcript (Including UTRs)
   Position: hg19 chrX:110,488,327-110,513,711 Size: 25,385 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chrX:110,489,805-110,507,164 Size: 17,360 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:110,488,327-110,513,711)mRNA (may differ from genome)Protein (641 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CAN6_HUMAN
DESCRIPTION: RecName: Full=Calpain-6; AltName: Full=Calpain-like protease X-linked; AltName: Full=Calpamodulin; Short=CalpM;
FUNCTION: Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site residues (By similarity).
SUBUNIT: Interacts (via domain III) with microtubules (By similarity). Interacts (via domain II) with ARHGEF2 (via the N- terminal zinc finger) (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton, spindle. Note=During mitose associated with the mitotic spindle. At telophase colocalized to the midbody spindle.
TISSUE SPECIFICITY: Expressed only in placenta.
SIMILARITY: Belongs to the peptidase C2 family.
SIMILARITY: Contains 1 C2 domain.
SIMILARITY: Contains 1 calpain catalytic domain.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/capn6/";

-  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: CAPN6
Diseases sorted by gene-association score: corneal dystrophy, posterior polymorphous, 1 (3)

-  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: 5.76 RPKM in Uterus
Total median expression: 43.70 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 -33.90128-0.265 Picture PostScript Text
3' UTR -363.801478-0.246 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
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR022684 - Calpain_cysteine_protease
IPR022682 - Calpain_domain_III
IPR022683 - Calpain_III
IPR001300 - Peptidase_C2_calpain_cat

Pfam Domains:
PF00168 - C2 domain
PF00648 - Calpain family cysteine protease
PF01067 - Calpain large subunit, domain III

SCOP Domains:
109640 - KRAB domain (Kruppel-associated box)
49758 - Calpain large subunit, middle domain (domain III)
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
54001 - Cysteine proteinases

ModBase Predicted Comparative 3D Structure on Q9Y6Q1
FrontTopSide
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    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004198 calcium-dependent cysteine-type endopeptidase activity
GO:0008017 microtubule binding

Biological Process:
GO:0001578 microtubule bundle formation
GO:0006508 proteolysis
GO:0051493 regulation of cytoskeleton organization

Cellular Component:
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005876 spindle microtubule
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AJ000388 - Homo sapiens mRNA for calpain-like protease CANPX.
BC000730 - Homo sapiens calpain 6, mRNA (cDNA clone MGC:1883 IMAGE:3503916), complete cds.
AF029232 - Homo sapiens calpamodulin (CalpM) mRNA, complete cds.
AK300340 - Homo sapiens cDNA FLJ50213 complete cds, highly similar to Calpain-6 (Calpamodulin).
KJ890823 - Synthetic construct Homo sapiens clone ccsbBroadEn_00217 CAPN6 gene, encodes complete protein.
AK312701 - Homo sapiens cDNA, FLJ93100, highly similar to Homo sapiens calpain 6 (CAPN6), mRNA.
DQ891851 - Synthetic construct clone IMAGE:100004481; FLH180606.01X; RZPDo839E01134D calpain 6 (CAPN6) gene, encodes complete protein.
DQ895041 - Synthetic construct Homo sapiens clone IMAGE:100009501; FLH180602.01L; RZPDo839E01133D calpain 6 (CAPN6) gene, encodes complete protein.
JD494312 - Sequence 475336 from Patent EP1572962.
JD263227 - Sequence 244251 from Patent EP1572962.
JD310446 - Sequence 291470 from Patent EP1572962.
JD071375 - Sequence 52399 from Patent EP1572962.
JD225920 - Sequence 206944 from Patent EP1572962.
JD457701 - Sequence 438725 from Patent EP1572962.
JD146771 - Sequence 127795 from Patent EP1572962.
JD131066 - Sequence 112090 from Patent EP1572962.
JD174202 - Sequence 155226 from Patent EP1572962.
JD383390 - Sequence 364414 from Patent EP1572962.
JD494826 - Sequence 475850 from Patent EP1572962.
JD139746 - Sequence 120770 from Patent EP1572962.
JD365509 - Sequence 346533 from Patent EP1572962.
JD152535 - Sequence 133559 from Patent EP1572962.
JD173511 - Sequence 154535 from Patent EP1572962.
JD465946 - Sequence 446970 from Patent EP1572962.
JD429032 - Sequence 410056 from Patent EP1572962.
JD273357 - Sequence 254381 from Patent EP1572962.
JD439003 - Sequence 420027 from Patent EP1572962.
JD100211 - Sequence 81235 from Patent EP1572962.
JD040813 - Sequence 21837 from Patent EP1572962.
JD053523 - Sequence 34547 from Patent EP1572962.
JD364672 - Sequence 345696 from Patent EP1572962.
JD063723 - Sequence 44747 from Patent EP1572962.
JD042426 - Sequence 23450 from Patent EP1572962.
JD240053 - Sequence 221077 from Patent EP1572962.
JD362942 - Sequence 343966 from Patent EP1572962.
JD243776 - Sequence 224800 from Patent EP1572962.
JD360951 - Sequence 341975 from Patent EP1572962.
CU674370 - Synthetic construct Homo sapiens gateway clone IMAGE:100020729 5' read CAPN6 mRNA.
JD503435 - Sequence 484459 from Patent EP1572962.
JD367424 - Sequence 348448 from Patent EP1572962.

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

Protein Q9Y6Q1 (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: CALPM, CAN6_HUMAN, CANPX, D3DUY7, ENST00000324068.1, NM_014289, Q9UEQ1, Q9UJA8, Q9Y6Q1, uc317row.1, uc317row.2
UCSC ID: ENST00000324068.2_7
RefSeq Accession: NM_014289.4
Protein: Q9Y6Q1 (aka CAN6_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.