Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CAPN8 Gene

Aliases for CAPN8 Gene

  • Calpain 8 2 3 5
  • Stomach-Specific M-Type Calpain 3 4
  • New Calpain 2 3 4
  • EC 3.4.22.53 4 61
  • NCL-2 3 4
  • Calpain 8 (NCL-2) 2
  • Calpain-8 3
  • EC 3.4.22 61
  • NCL2 4

External Ids for CAPN8 Gene

Previous GeneCards Identifiers for CAPN8 Gene

  • GC02U990107
  • GC01U901168
  • GC01M221871
  • GC01M221782
  • GC01M223711
  • GC01M194391

Summaries for CAPN8 Gene

GeneCards Summary for CAPN8 Gene

CAPN8 (Calpain 8) is a Protein Coding gene. Among its related pathways are Degradation of the extracellular matrix and Apoptosis Pathway. GO annotations related to this gene include calcium ion binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN2.

UniProtKB/Swiss-Prot for CAPN8 Gene

  • Calcium-regulated non-lysosomal thiol-protease. Involved in membrane trafficking in the gastric surface mucus cells (pit cells) and may involve the membrane trafficking of mucus cells via interactions with coat protein. Proteolytically cleaves the beta-subunit of coatomer complex (By similarity).

Tocris Summary for CAPN8 Gene

  • Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure.

No data available for Entrez Gene Summary , CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPN8 Gene

Genomics for CAPN8 Gene

Regulatory Elements for CAPN8 Gene

Enhancers for CAPN8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G223710 2 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -50.6 -50590 11.8 ZFP64 FEZF1 YY1 ZNF143 ZNF548 ZNF263 SP3 ZFP41 MEF2D ZNF610 CICP5 TP53BP2 CAPN2 CAPN8 GTF2IP20 RNU6-1248P NVL FBXO28 LOC105373281 GC01P223725
GH01G223704 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -41.3 -41319 5.5 HDGF PKNOX1 FOXA2 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS CAPN2 CAPN8 CICP5 LOC105373281
GH01G223769 1.6 Ensembl ENCODE dbSUPER 10.8 -105.7 -105737 4.0 HDGF PKNOX1 CREB3L1 ARNT FEZF1 ZNF2 CBX5 FOS KLF13 SP3 CAPN2 CAPN8 CICP5 GTF2IP20 TP53BP2 LOC105373041 LOC105373046
GH01G223831 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.7 -168.7 -168667 6.8 PKNOX1 ZEB1 ZNF121 ZNF766 GATA2 ZNF366 ZSCAN5C SCRT2 FOS EGR2 TP53BP2 CAPN2 GTF2IP20 NVL CAPN8 FBXO28 GC01M223821
GH01G223746 1.4 Ensembl ENCODE dbSUPER 11.1 -82.6 -82606 3.1 PKNOX1 RB1 AGO1 NFRKB KLF17 SIN3A ZNF2 RAD21 YY1 TCF12 CAPN2 CICP5 CAPN8 LOC105373046 LOC105373041
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CAPN8 on UCSC Golden Path with GeneCards custom track

Genomic Location for CAPN8 Gene

Chromosome:
1
Start:
223,538,007 bp from pter
End:
223,665,734 bp from pter
Size:
127,728 bases
Orientation:
Minus strand

Genomic View for CAPN8 Gene

Genes around CAPN8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPN8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPN8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPN8 Gene

Proteins for CAPN8 Gene

  • Protein details for CAPN8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NHC0-CAN8_HUMAN
    Recommended name:
    Calpain-8
    Protein Accession:
    A6NHC0
    Secondary Accessions:
    • B2RXL2

    Protein attributes for CAPN8 Gene

    Size:
    703 amino acids
    Molecular mass:
    79144 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Monomer and homooligomer. Interacts with COPS1/GPS1, COPB1, EYA2, NME2, NME4 and TOMM70 (By similarity).

neXtProt entry for CAPN8 Gene

Selected DME Specific Peptides for CAPN8 Gene

A6NHC0:
  • EICNLSPDSL
  • RNPWGEVEW
  • GATRTDI
  • GSLLGCSI
  • LGDCWLLA
  • YAGIFHF
  • LLEKAYAK
  • NPQFKIRL
  • YAGIFHFQFWQYGEWV
  • EGFEDFTGG
  • RLRNPWG
  • RGSTAGGC
  • RTDICQG

Post-translational modifications for CAPN8 Gene

  • Undergoes autolytic cleavage between Ala-5 and Ala-6 which gives rise to fragments extending from Ala-6 to the C-terminus, Ala-6 to the EF-hand 2 domain and from Ala-6 to the beginning of domain III.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CAPN8 Gene

Gene Families for CAPN8 Gene

Suggested Antigen Peptide Sequences for CAPN8 Gene

Graphical View of Domain Structure for InterPro Entry

A6NHC0

UniProtKB/Swiss-Prot:

CAN8_HUMAN :
  • The domain III mediates oligomerization.
  • Belongs to the peptidase C2 family.
Domain:
  • The domain III mediates oligomerization.
Family:
  • Belongs to the peptidase C2 family.
genes like me logo Genes that share domains with CAPN8: view

Function for CAPN8 Gene

Molecular function for CAPN8 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Broad endopeptidase specificity.
UniProtKB/Swiss-Prot Function:
Calcium-regulated non-lysosomal thiol-protease. Involved in membrane trafficking in the gastric surface mucus cells (pit cells) and may involve the membrane trafficking of mucus cells via interactions with coat protein. Proteolytically cleaves the beta-subunit of coatomer complex (By similarity).

Enzyme Numbers (IUBMB) for CAPN8 Gene

Gene Ontology (GO) - Molecular Function for CAPN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004198 calcium-dependent cysteine-type endopeptidase activity IBA --
GO:0005509 calcium ion binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CAPN8: view
genes like me logo Genes that share phenotypes with CAPN8: view

Animal Models for CAPN8 Gene

MGI Knock Outs for CAPN8:

Animal Model Products

  • Taconic Biosciences Mouse Models for CAPN8

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CAPN8

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CAPN8 Gene

Localization for CAPN8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPN8 Gene

Cytoplasm. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAPN8 gene
Compartment Confidence
nucleus 3
cytosol 3
golgi apparatus 3
lysosome 1

Gene Ontology (GO) - Cellular Components for CAPN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with CAPN8: view

Pathways & Interactions for CAPN8 Gene

genes like me logo Genes that share pathways with CAPN8: view

Pathways by source for CAPN8 Gene

1 Tocris pathway for CAPN8 Gene

Interacting Proteins for CAPN8 Gene

Gene Ontology (GO) - Biological Process for CAPN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IBA --
GO:0007586 digestion IEA --
genes like me logo Genes that share ontologies with CAPN8: view

No data available for SIGNOR curated interactions for CAPN8 Gene

Drugs & Compounds for CAPN8 Gene

(5) Drugs for CAPN8 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Epoxomicin Pharma Proteasome inhibitor 0
MG-132 Pharma Proteasome inhibitor, Cell permeable, reversible 0
PSI Pharma Proteasome inhibitor 0
calcium Nutra 0
Acetyl-Calpastatin (184-210) (human) Pharma Calpain I/II inhibitor, Selective calpain inhibitor 0

(1) Additional Compounds for CAPN8 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MG 132
133407-82-6

(2) Tocris Compounds for CAPN8 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Selective calpain inhibitor 123714-50-1
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation 133407-82-6

(3) ApexBio Compounds for CAPN8 Gene

Compound Action Cas Number
Epoxomicin Proteasome inhibitor 134381-21-8
MG-132 Proteasome inhibitor, Cell permeable, reversible 133407-82-6
PSI Proteasome inhibitor 158442-41-2
genes like me logo Genes that share compounds with CAPN8: view

Drug Products

Transcripts for CAPN8 Gene

mRNA/cDNA for CAPN8 Gene

(5) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CAPN8 Gene

Calpain 8:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CAPN8

Alternative Splicing Database (ASD) splice patterns (SP) for CAPN8 Gene

No ASD Table

Relevant External Links for CAPN8 Gene

GeneLoc Exon Structure for
CAPN8
ECgene alternative splicing isoforms for
CAPN8

Expression for CAPN8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAPN8 Gene

mRNA differential expression in normal tissues according to GTEx for CAPN8 Gene

This gene is overexpressed in Stomach (x18.7), Colon - Transverse (x7.9), Bladder (x6.4), and Lung (x5.2).

Protein differential expression in normal tissues from HIPED for CAPN8 Gene

This gene is overexpressed in Stomach (56.6) and Testis (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CAPN8 Gene



Protein tissue co-expression partners for CAPN8 Gene

NURSA nuclear receptor signaling pathways regulating expression of CAPN8 Gene:

CAPN8

SOURCE GeneReport for Unigene cluster for CAPN8 Gene:

Hs.291487

mRNA Expression by UniProt/SwissProt for CAPN8 Gene:

A6NHC0-CAN8_HUMAN
Tissue specificity: Stomach.

Evidence on tissue expression from TISSUES for CAPN8 Gene

  • Blood(4.2)
  • Stomach(3.2)
genes like me logo Genes that share expression patterns with CAPN8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAPN8 Gene

Orthologs for CAPN8 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPN8 Gene

Organism Taxonomy Gene Similarity Type Details
rat
(Rattus norvegicus)
Mammalia Capn8 34
  • 84.02 (n)
mouse
(Mus musculus)
Mammalia Capn8 34 16 35
  • 83.78 (n)
dog
(Canis familiaris)
Mammalia CAPN8 34 35
  • 81.51 (n)
cow
(Bos Taurus)
Mammalia MGC151839 35
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CAPN8 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAPN8 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAPN8 34 35
  • 72.46 (n)
lizard
(Anolis carolinensis)
Reptilia CAPN8 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia capn8 34
  • 67.14 (n)
zebrafish
(Danio rerio)
Actinopterygii capn8 34 35
  • 61.23 (n)
worm
(Caenorhabditis elegans)
Secernentea clp-1 34
  • 53.86 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4609 35
  • 37 (a)
OneToMany
Species where no ortholog for CAPN8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAPN8 Gene

ENSEMBL:
Gene Tree for CAPN8 (if available)
TreeFam:
Gene Tree for CAPN8 (if available)

Paralogs for CAPN8 Gene

genes like me logo Genes that share paralogs with CAPN8: view

Variants for CAPN8 Gene

Sequence variations from dbSNP and Humsavar for CAPN8 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000013546 -- 223,609,912(+) GGGGC(A/G)GCCAC intron-variant
rs1000017501 -- 223,649,752(+) ATAAC(A/G)ATGAT intron-variant
rs1000027434 -- 223,653,355(+) AAATG(C/G)CTTGT intron-variant
rs1000055583 -- 223,655,669(+) ACAAA(A/G)AGAGA intron-variant
rs1000120633 -- 223,665,054(+) TTTGA(A/G)ACCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CAPN8 Gene

Variant ID Type Subtype PubMed ID
dgv47e201 CNV deletion 23290073
dgv48e201 CNV deletion 23290073
dgv49e201 CNV deletion 23290073
dgv50e201 CNV deletion 23290073
esv1388923 CNV deletion 17803354
esv1919956 CNV deletion 18987734
esv2723417 CNV deletion 23290073
esv2723473 CNV deletion 23290073
esv2723495 CNV deletion 23290073
esv2740896 CNV deletion 23290073
esv2741351 CNV deletion 23290073
esv2742948 CNV deletion 23290073
esv27704 CNV loss 19812545
esv34082 CNV loss 18971310
esv3414527 CNV duplication 20981092
esv3547344 CNV deletion 23714750
esv3575717 CNV gain 25503493
esv3588960 CNV gain 21293372
nsv1126229 CNV deletion 24896259
nsv474099 CNV novel sequence insertion 20440878
nsv475163 CNV novel sequence insertion 20440878
nsv475307 CNV novel sequence insertion 20440878
nsv477673 CNV novel sequence insertion 20440878
nsv478790 CNV novel sequence insertion 20440878
nsv479023 CNV novel sequence insertion 20440878
nsv479114 CNV novel sequence insertion 20440878
nsv479266 CNV novel sequence insertion 20440878
nsv479272 CNV novel sequence insertion 20440878
nsv479392 CNV novel sequence insertion 20440878
nsv479450 CNV novel sequence insertion 20440878
nsv479737 CNV novel sequence insertion 20440878
nsv479800 CNV novel sequence insertion 20440878
nsv479801 CNV novel sequence insertion 20440878
nsv479837 CNV novel sequence insertion 20440878
nsv480006 CNV novel sequence insertion 20440878
nsv480072 CNV novel sequence insertion 20440878
nsv480187 CNV novel sequence insertion 20440878
nsv480449 CNV novel sequence insertion 20440878
nsv481088 CNV novel sequence insertion 20440878
nsv481348 CNV novel sequence insertion 20440878
nsv481361 CNV novel sequence insertion 20440878
nsv481510 CNV novel sequence insertion 20440878
nsv821216 CNV deletion 20802225
nsv832681 CNV gain 17160897
nsv945310 CNV duplication 23825009

Variation tolerance for CAPN8 Gene

Gene Damage Index Score: 23.52; 99.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAPN8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPN8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN8 Gene

Disorders for CAPN8 Gene

Relevant External Links for CAPN8

Genetic Association Database (GAD)
CAPN8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAPN8

No disorders were found for CAPN8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CAPN8 Gene

Publications for CAPN8 Gene

  1. Both the conserved and the unique gene structure of stomach-specific calpains reveal processes of calpain gene evolution. (PMID: 11523006) Hata S. … Suzuki K. (J. Mol. Evol. 2001) 3 4 64
  2. Generation and analysis of 280,000 human expressed sequence tags. (PMID: 8889549) Hillier L.D. … Marra M. (Genome Res. 1996) 2 3 64
  3. A novel tissue-specific calpain species expressed predominantly in the stomach comprises two alternative splicing products with and without Ca(2+)-binding domain. (PMID: 7690035) Sorimachi H. … Suzuki K. (J. Biol. Chem. 1993) 2 3 64
  4. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PMID: 17903299) Kathiresan S. … Cupples L.A. (BMC Med. Genet. 2007) 46 64
  5. Stomach-specific calpain, nCL-2/calpain 8, is active without calpain regulatory subunit and oligomerizes through C2-like domains. (PMID: 17646163) Hata S. … Sorimachi H. (J. Biol. Chem. 2007) 3 64

Products for CAPN8 Gene

  • Addgene plasmids for CAPN8

Sources for CAPN8 Gene

Content
Loading form....