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Aliases for CASP6 Gene

Aliases for CASP6 Gene

  • Caspase 6 2 3 5
  • Caspase 6, Apoptosis-Related Cysteine Peptidase 2 3
  • Caspase 6, Apoptosis-Related Cysteine Protease 2 3
  • EC 4 58
  • MCH2 3 4
  • Apoptotic Protease MCH-2 3
  • Apoptotic Protease Mch-2 4
  • Caspase-6 3
  • EC 3.4.22 58
  • CASP-6 4

External Ids for CASP6 Gene

Previous GeneCards Identifiers for CASP6 Gene

  • GC04M111026
  • GC04M110880
  • GC04M111068
  • GC04M110967
  • GC04M110829
  • GC04M110609
  • GC04M106342

Summaries for CASP6 Gene

Entrez Gene Summary for CASP6 Gene

  • This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic acid residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Oct 2015]

GeneCards Summary for CASP6 Gene

CASP6 (Caspase 6) is a Protein Coding gene. Diseases associated with CASP6 include Dystrophinopathies. Among its related pathways are TNFR1 Pathway and TNF Signaling (sino). GO annotations related to this gene include identical protein binding and cysteine-type peptidase activity. An important paralog of this gene is CASP3.

UniProtKB/Swiss-Prot for CASP6 Gene

  • Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death.

Tocris Summary for CASP6 Gene

  • Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by, and interact with, upstream adaptor molecules.

Gene Wiki entry for CASP6 Gene

Additional gene information for CASP6 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP6 Gene

Genomics for CASP6 Gene

Regulatory Elements for CASP6 Gene

Enhancers for CASP6 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
GH04H109422 1.1 Ensembl ENCODE 10.2 +291.2 291213 0.6 HDGF CTCF PKNOX1 ATF1 ZNF2 RAD21 TEAD3 CC2D1A SMC3 ZNF143 SEC24B CDC42P4 SETP20 CASP6 GAR1 OSTC PLA2G12A LRIT3 PIR37678
GH04H109701 1.6 FANTOM5 ENCODE dbSUPER 4.6 +10.9 10882 3.6 PKNOX1 ATF1 ARID4B SIN3A YBX1 GLI4 ZNF2 TCF12 ZNF766 GLIS2 PLA2G12A CASP6 RBMXP4 LRIT3 GC04M109692 GC04M109713
GH04H109648 0.6 ENCODE 5.2 +64.3 64253 2.7 NFIC NFIB JUNB ATF7 RUNX3 BATF ZNF507 PLA2G12A CASP6 HIGD1AP14 GC04P109564
GH04H109713 0.4 dbSUPER 0.7 -0.1 -85 1.8 HLF CFI CASP6 PLA2G12A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASP6 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CASP6 Gene

Genomic Locations for CASP6 Gene
25,283 bases
Minus strand

Genomic View for CASP6 Gene

Genes around CASP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASP6 Gene

Proteins for CASP6 Gene

  • Protein details for CASP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q9BQE7

    Protein attributes for CASP6 Gene

    293 amino acids
    Molecular mass:
    33310 Da
    Quaternary structure:
    • Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 18 kDa (p18) and a 11 kDa (p11) subunit. Interacts with BIRC6/bruce.

    Three dimensional structures from OCA and Proteopedia for CASP6 Gene

    Alternative splice isoforms for CASP6 Gene


neXtProt entry for CASP6 Gene

Selected DME Specific Peptides for CASP6 Gene


Post-translational modifications for CASP6 Gene

  • Cleavages by caspase-3, caspase-8 or -10 generate the two active subunits.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CASP6 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CASP6 (CASP6)

Domains & Families for CASP6 Gene

Gene Families for CASP6 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CASP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase C14A family.
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP6: view

Function for CASP6 Gene

Molecular function for CASP6 Gene

GENATLAS Biochemistry:
caspase 6,effector,cysteine containing aspartate-specific protease,CASP3 subfamily,with two isoforms alpha and beta,stored in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic stimuli,promoting apoptosis
UniProtKB/Swiss-Prot CatalyticActivity:
Strict requirement for Asp at position P1 and has a preferred cleavage sequence of Val-Glu-His-Asp- -.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activation is suppressed by phosphorylation at Ser-257.
UniProtKB/Swiss-Prot Function:
Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death.

Enzyme Numbers (IUBMB) for CASP6 Gene

Gene Ontology (GO) - Molecular Function for CASP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity TAS,IEA --
GO:0005515 protein binding IPI 12888622
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA,TAS 7796396
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CASP6: view
genes like me logo Genes that share phenotypes with CASP6: view

Animal Models for CASP6 Gene

MGI Knock Outs for CASP6:

Clone Products

  • Addgene plasmids for CASP6

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CASP6 Gene

Localization for CASP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASP6 Gene


Subcellular locations from

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 CASP6 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CASP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CASP6: view

Pathways & Interactions for CASP6 Gene

genes like me logo Genes that share pathways with CASP6: view

SIGNOR curated interactions for CASP6 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CASP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA,IEA 12888622
GO:0006915 apoptotic process TAS 7796396
GO:0030855 epithelial cell differentiation IEP 21492153
GO:0042981 regulation of apoptotic process TAS --
GO:0072734 cellular response to staurosporine IMP 22253444
genes like me logo Genes that share ontologies with CASP6: view

Drugs & Compounds for CASP6 Gene

(19) Drugs for CASP6 Gene - From: ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Z-VEID-FMK Pharma Inhibition, Inhibitor Caspase-6 inhibitor 0
Apoptosis Activator 2 Pharma Indoledione caspase activator, cell-permeable 0
Z-DEVD-FMK Pharma Inhibition, Inhibitor Caspase-3 inhibitor 0

(7) Additional Compounds for CASP6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for CASP6 Gene

Compound Action Cas Number
Apoptosis Activator 2 Promotes apoptosome formation and activates caspase-9/caspase-3 pathway. Selectively induces tumor cell apoptosis 79183-19-0
Cisplatin Potent pro-apoptotic anticancer agent; activates caspase-3 15663-27-1
PAC 1 Activator of procaspase-3; pro-apoptotic 315183-21-2
PETCM Activator of caspase-3 10129-56-3

(3) ApexBio Compounds for CASP6 Gene

Compound Action Cas Number
Apoptosis Activator 2 Indoledione caspase activator, cell-permeable 79183-19-0
Z-DEVD-FMK Caspase-3 inhibitor 210344-95-9
Z-VEID-FMK Caspase-6 inhibitor
genes like me logo Genes that share compounds with CASP6: view

Drug Products

Transcripts for CASP6 Gene

Unigene Clusters for CASP6 Gene

Caspase 6, apoptosis-related cysteine peptidase:
Representative Sequences:

Clone Products

  • Addgene plasmids for CASP6

Alternative Splicing Database (ASD) splice patterns (SP) for CASP6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
SP1: -
SP2: - -
SP3: - -
SP4: -
SP6: - - - - -

Relevant External Links for CASP6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CASP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CASP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASP6 Gene

This gene is overexpressed in Colon - Transverse (x4.6).

Protein differential expression in normal tissues from HIPED for CASP6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.7), Lymph node (9.4), and Fetal gut (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CASP6 Gene

Protein tissue co-expression partners for CASP6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CASP6 Gene:


SOURCE GeneReport for Unigene cluster for CASP6 Gene:


Evidence on tissue expression from TISSUES for CASP6 Gene

  • Blood(4.4)
  • Lung(4.3)
  • Intestine(2.6)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with CASP6: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CASP6 Gene

Orthologs for CASP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP6 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CASP6 33
  • 96.79 (n)
(Canis familiaris)
Mammalia CASP6 33 34
  • 88.7 (n)
(Bos Taurus)
Mammalia CASP6 33 34
  • 86.3 (n)
(Rattus norvegicus)
Mammalia Casp6 33
  • 84.73 (n)
(Mus musculus)
Mammalia Casp6 33 16 34
  • 84.43 (n)
(Monodelphis domestica)
Mammalia CASP6 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia CASP6 34
  • 68 (a)
(Gallus gallus)
Aves CASP6 33 34
  • 72.88 (n)
(Anolis carolinensis)
Reptilia CASP6 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia casp6 33
  • 67.16 (n)
Str.15354 33
African clawed frog
(Xenopus laevis)
Amphibia xCaspase-6 33
(Danio rerio)
Actinopterygii casp6 33 34
  • 67.04 (n)
casp6l2 34
  • 52 (a)
casp6l1 34
  • 33 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.144 33
fruit fly
(Drosophila melanogaster)
Insecta Ice 35 34
  • 40 (a)
Dcp-1 35 34
  • 38 (a)
decay 35 34
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6562 34
  • 34 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7590 33
Species where no ortholog for CASP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CASP6 Gene

Gene Tree for CASP6 (if available)
Gene Tree for CASP6 (if available)

Paralogs for CASP6 Gene

Paralogs for CASP6 Gene

(4) SIMAP similar genes for CASP6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CASP6: view

Variants for CASP6 Gene

Sequence variations from dbSNP and Humsavar for CASP6 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000196462 -- 109,693,448(+) TCTGG(A/G)AGGCC intron-variant
rs1000311001 -- 109,693,825(+) CCTCT(C/G)CCTCC intron-variant
rs1000372708 -- 109,704,650(+) CTAAC(A/G)TAGAA upstream-variant-2KB
rs1000648424 -- 109,692,180(+) TTAAT(C/T)TTCGT intron-variant
rs1000747613 -- 109,700,657(+) CTGGA(C/T)ATCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASP6 Gene

Variant ID Type Subtype PubMed ID
nsv595142 CNV loss 21841781
nsv1123829 CNV deletion 24896259

Variation tolerance for CASP6 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASP6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASP6 Gene

Disorders for CASP6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CASP6 Gene - From: GeneCards

Disorder Aliases PubMed IDs
  • dystrophinopathy
- elite association - COSMIC cancer census association via MalaCards
Search CASP6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CASP6

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CASP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASP6 Gene

Publications for CASP6 Gene

  1. Mch2, a new member of the apoptotic Ced-3/Ice cysteine protease gene family. (PMID: 7796396) Fernandes-Alnemri T … Alnemri ES (Cancer research 1995) 2 3 4 22 60
  2. Regulation of caspase-6 and FLIP by the AMPK family member ARK5. (PMID: 15273717) Suzuki A … Esumi H (Oncogene 2004) 3 4 22 60
  3. Chromosomal localization of the human genes, CPP32, Mch2, Mch3, and Ich-1, involved in cellular apoptosis. (PMID: 8780721) Tiso N … Danieli GA (Biochemical and biophysical research communications 1996) 2 3 22 60
  4. MicroRNA profiling reveals new aspects of HIV neurodegeneration: caspase-6 regulates astrocyte survival. (PMID: 20097875) Noorbakhsh F … Power C (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010) 3 22 60
  5. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 45 60

Products for CASP6 Gene

  • Addgene plasmids for CASP6

Sources for CASP6 Gene

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