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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
  • MCH2 3 4
  • Apoptotic Protease MCH-2 3
  • Apoptotic Protease Mch-2 4
  • EC 4
  • Caspase-6 3
  • 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 Gene Expression and Parkinsons Disease Pathway. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for CASP6 Gene

Promoters and enhancers for CASP6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J109701 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 654.6 +10.9 10882 3.6 PKNOX1 ARID4B SIN3A YBX1 ZNF2 POLR2B ZNF766 ZNF143 SP3 JUNB CASP6 PLA2G12A RBMXP4 LRIT3 GC04M109692 GC04M109714
GH04J109713 Enhancer 0.3 dbSUPER 650.7 -0.1 -85 1.8 HLF CASP6 GC04M109714 CFI PLA2G12A ENSG00000285330
GH04J110192 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 -482.5 -482460 7 MLX FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZNF610 GLIS1 RCOR2 ELOVL6 SEC24B GAR1 SETP20 CDC42P4 CASP6 ENSG00000250511 ENSG00000248200
GH04J109814 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.2 -102.2 -102220 3.1 FOXA2 CLOCK SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B GAR1 ENSG00000272795 SETP20 SEC24B CDC42P4 CASP6 LRIT3 GC04M109825
GH04J109422 Enhancer 1 Ensembl ENCODE 10.2 +291.2 291213 0.6 HDGF PKNOX1 ATF1 ZNF2 RAD21 ARID2 ZNF143 CREM MIXL1 DEK SEC24B CDC42P4 SETP20 CASP6 GAR1 OSTC PLA2G12A LRIT3 SEC24B-AS1 PIR37678
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASP6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CASP6 gene promoter:
  • PPAR-alpha
  • FOXF2
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • AML1a

Genomic Locations for CASP6 Gene

Genomic Locations for CASP6 Gene
25,283 bases
Minus strand
14,955 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

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

No data available for DME Specific Peptides for CASP6 Gene

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

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.
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.
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

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 IEA,TAS --
GO:0005515 protein binding IPI 12888622
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity TAS,IEA 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:

Animal Model Products

  • Taconic Biosciences Mouse Models for CASP6

miRNA for CASP6 Gene

miRTarBase miRNAs that target CASP6

Clone Products

  • Addgene plasmids for CASP6

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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 IBA,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 IEA,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

(18) Drugs for CASP6 Gene - From: DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2906
Z-VEID-FMK Pharma Inhibition, Inhibitor Caspase-6 inhibitor 0
Apoptosis Activator 2 Pharma Indoledione caspase activator, cell-permeable, Promotes apoptosome formation and activates caspase-9/caspase-3 pathway. Selectively induces tumor cell apoptosis 0
Z-DEVD-FMK Pharma Inhibition, Inhibitor Caspase-3 inhibitor 0
PETCM Pharma Activator Caspase-3 activator, Activator of caspase-3 0

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

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

Transcripts for CASP6 Gene

mRNA/cDNA for CASP6 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(436) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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, 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(2.7)
  • 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 34 33
  • 88.7 (n)
(Bos Taurus)
Mammalia CASP6 34 33
  • 86.3 (n)
(Rattus norvegicus)
Mammalia Casp6 33
  • 84.73 (n)
(Mus musculus)
Mammalia Casp6 16 34 33
  • 84.43 (n)
(Monodelphis domestica)
Mammalia CASP6 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia CASP6 34
  • 68 (a)
(Gallus gallus)
Aves CASP6 34 33
  • 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 34 33
  • 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 34 35
  • 31 (a)
Dcp-1 34 35
  • 31 (a)
decay 34 35
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6562 34
  • 34 (a)
Cin.7590 33
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)
Evolutionary constrained regions (ECRs) for CASP6: view image

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 Variation AA Info Type
rs1000196462 -- 109,693,448(-) G/A intron_variant
rs1000311001 -- 109,693,825(-) G/C intron_variant
rs1000372708 -- 109,704,650(-) G/A upstream_transcript_variant
rs1000648424 -- 109,692,180(-) C/T intron_variant
rs1000747613 -- 109,700,657(-) C/T intron_variant

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

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

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)

Additional Variant Information for CASP6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Additional Disease Information for CASP6

Genetic Association Database
Human Genome Epidemiology 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 58
  2. Regulation of caspase-6 and FLIP by the AMPK family member ARK5. (PMID: 15273717) Suzuki A … Esumi H (Oncogene 2004) 3 4 22 58
  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 58
  4. Mutational analysis of caspase genes in prostate carcinomas. (PMID: 20402676) Kim MS … Lee SH (APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2010) 3 44 58
  5. Identification of Caspase-6-mediated processing of the valosin containing protein (p97) in Alzheimer's disease: a novel link to dysfunction in ubiquitin proteasome system-mediated protein degradation. (PMID: 20427671) Halawani D … LeBlanc AC (The Journal of neuroscience : the official journal of the Society for Neuroscience 2010) 3 22 58

Products for CASP6 Gene

  • Addgene plasmids for CASP6

Sources for CASP6 Gene

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