Aliases for CAPN8 Gene

Aliases for CAPN8 Gene

  • Calpain 8 2 3 5
  • NCL-2 2 3 4
  • Stomach-Specific M-Type Calpain 3 4
  • New Calpain 2 3 4
  • EC 3.4.22.53 4 51
  • Calpain-8 3 4
  • Calpain 8 (NCL-2) 2
  • EC 3.4.22 51
  • CAPN8 5
  • 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. Diseases associated with CAPN8 include Isovaleric Acidemia and Methylmalonic Aciduria And Homocystinuria, Cblc Type. Among its related pathways are Degradation of the extracellular matrix and Apoptosis Pathway. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for CAPN8 Gene

Genomics for CAPN8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CAPN8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J223664 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 260.4 +0.0 23 2.2 ZNF217 ELK1 MBD2 CTBP1 TCF7L2 SMARCE1 FOXA1 MAZ PKNOX1 DPF2 CAPN8 CAPN2 GTF2IP20 SNRPEP10 CCDC185
GH01J223710 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.6 -50.6 -50590 11.8 ZSCAN16 TBP ZBTB10 FEZF1 CEBPA MNT DEK IKZF1 SMAD5 IRF2 CAPN2 CICP5 NVL SEPTIN7P13 TP53BP2 WDR26 CAPN8 FBXO28 RNU6-1248P GTF2IP20
GH01J223704 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -41.1 -41112 5.1 FEZF1 CEBPA IKZF1 MBD2 ZNF217 ZEB1 CTCF MCM3 ZIC2 CEBPB HSALNG0010905 LOC105373281 CICP5 CAPN2 WDR26 SEPTIN7P13 NVL CNIH4 CAPN8 FBXO28
GH01J223620 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 16.5 +44.5 44500 3.3 BCL11A KDM6A THAP11 IRF4 SMAD4 SAP130 RXRA MIER3 EBF1 RARA CAPN8 CAPN2 ENSG00000229399 HSALNG0010899 HSALNG0010898 CCDC185
GH01J223652 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 15.8 +11.8 11834 4.2 ZNF217 MBD2 FOXA2 RXRA CTBP1 FOSL1 JUND GATA3 TCF7L2 SMARCE1 CAPN8 CAPN2 GTF2IP20 SNRPEP10 CCDC185
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAPN8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAPN8

Top Transcription factor binding sites by QIAGEN in the CAPN8 gene promoter:
  • AP-1
  • COMP1
  • E47
  • LyF-1
  • Pax-4a
  • POU2F1
  • POU2F1a
  • Tal-1
  • Tal-1beta

Genomic Locations for CAPN8 Gene

Latest Assembly
chr1:223,538,007-223,665,734
(GRCh38/hg38)
Size:
127,728 bases
Orientation:
Minus strand

Previous Assembly
chr1:223,714,979-223,853,403
(GRCh37/hg19 by Entrez Gene)
Size:
138,425 bases
Orientation:
Minus strand

chr1:223,711,349-223,853,436
(GRCh37/hg19 by Ensembl)
Size:
142,088 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).

    Three dimensional structures from OCA and Proteopedia for CAPN8 Gene

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

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CAPN8 Gene

GenScript: Design optimal peptide antigens:
  • Calpain 8 (A3QK36_HUMAN)
  • Calpain 8 (A3QK37_HUMAN)
  • Stomach-specific M-type calpain (CAN8_HUMAN)

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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Broad endopeptidase specificity.; EC=3.4.22.53;.

Enzyme Numbers (IUBMB) for CAPN8 Gene

Phenotypes From GWAS Catalog 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 IEA,IBA 21873635
GO:0005509 calcium ion binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding 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 Models for research

  • Taconic Biosciences Mouse Models for CAPN8

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
golgi apparatus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAPN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
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

Gene Ontology (GO) - Biological Process for CAPN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IBA 21873635
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

(6) 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 6876
Calpeptin Pharma Ca2+-dependent protease,calpain inhibitor, Calpain and cathepsin L inhibitor 0

(2) Tocris Compounds for CAPN8 Gene

Compound Action Cas Number
Calpeptin Calpain and cathepsin L inhibitor 117591-20-5
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8

(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 for research

Transcripts for CAPN8 Gene

mRNA/cDNA for CAPN8 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for CAPN8 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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 and MOPED for CAPN8 Gene



Protein tissue co-expression partners for CAPN8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
genes like me logo Genes that share expression patterns with CAPN8: view

Primer products for research

No data available for 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 30
  • 84.02 (n)
Mouse
(Mus musculus)
Mammalia Capn8 30 17 31
  • 83.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CAPN8 30 31
  • 81.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MGC151839 31
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CAPN8 31
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CAPN8 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CAPN8 30 31
  • 72.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CAPN8 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia capn8 30
  • 67.14 (n)
Zebrafish
(Danio rerio)
Actinopterygii capn8 30 31
  • 61.23 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea clp-1 30
  • 53.86 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4609 31
  • 37 (a)
OneToMany
Species where no ortholog for CAPN8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CAPN8: view image

Paralogs for CAPN8 Gene

(15) SIMAP similar genes for CAPN8 Gene using alignment to 8 proteins:

  • CAN8_HUMAN
  • A3QK36_HUMAN
  • A3QK37_HUMAN
  • B1B153_HUMAN
  • B1B154_HUMAN
  • H0YDN4_HUMAN
  • H0YEJ4_HUMAN
  • H0YEQ4_HUMAN
genes like me logo Genes that share paralogs with CAPN8: view

Variants for CAPN8 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CAPN8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CAPN8 Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAPN8 Gene

Disorders for CAPN8 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CAPN8 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search CAPN8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CAPN8

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CAPN8: view

No data available for 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 (Journal of molecular evolution 2001) 3 4
  2. Generation and analysis of 280,000 human expressed sequence tags. (PMID: 8889549) Hillier LD … Marra M (Genome research 1996) 2 3
  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 (The Journal of biological chemistry 1993) 2 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. The CAPN2/CAPN8 Locus on Chromosome 1q Is Associated with Variation in Serum Alpha-Carotene Concentrations. (PMID: 28002826) D'Adamo CR … McArdle PF (Journal of nutrigenetics and nutrigenomics 2016) 3

Products for CAPN8 Gene

Sources for CAPN8 Gene